Variant report

Variant	rs2784098
Chromosome Location	chr9:139701666-139701667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr9:139701630-139702521	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr9:139701265-139703604	IMR90	lung:	n/a	n/a
3	POLR2A	chr9:139696616-139701667	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:139696498-139702924	HepG2	liver:	n/a	n/a
5	PML	chr9:139701616-139702649	GM12878	blood:	n/a	n/a
6	HEY1	chr9:139696370-139703193	HepG2	liver:	n/a	chr9:139697926-139697941
7	POLR2A	chr9:139701077-139702708	SK-N-MC	brain:	n/a	n/a
8	MAX	chr9:139701595-139702499	MCF-7	breast:	n/a	n/a
9	POLR2A	chr9:139701010-139702839	MCF-7	breast:	n/a	n/a
10	SIN3AK20	chr9:139701507-139702573	MCF-7	breast:	n/a	n/a
11	TEAD4	chr9:139701584-139701973	K562	blood:	n/a	n/a
12	POLR2A	chr9:139701623-139703128	A549	lung:	n/a	n/a
13	POLR2A	chr9:139701148-139703247	K562	blood:	n/a	n/a
14	POLR2A	chr9:139701574-139703316	GM12892	blood:	n/a	n/a
15	BCL3	chr9:139701598-139702410	A549	lung:	n/a	n/a
16	MAX	chr9:139701539-139703304	HepG2	liver:	n/a	n/a
17	CTCF	chr9:139701600-139701750	BJ	skin:	n/a	n/a
18	POLR2A	chr9:139701627-139701789	ProgFib	skin:	n/a	n/a
19	MXI1	chr9:139701131-139704036	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr9:139701659-139702805	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:139682141-139704512	HepG2	liver:	n/a	n/a
22	ELF1	chr9:139701335-139701666	K562	blood:	n/a	n/a
23	POLR2A	chr9:139701520-139703254	ECC-1	luminal epithelium:	n/a	n/a
24	FOSL2	chr9:139701652-139702862	HepG2	liver:	n/a	n/a
25	HCFC1	chr9:139700558-139703717	Hela-S3	cervix:	n/a	n/a
26	UBTF	chr9:139701496-139704478	K562	blood:	n/a	n/a
27	POLR2A	chr9:139701655-139702535	GM12878	blood:	n/a	n/a
28	MAZ	chr9:139701561-139703195	IMR90	lung:	n/a	n/a
29	MAX	chr9:139701611-139702497	MCF-7	breast:	n/a	n/a
30	FOXA1	chr9:139701657-139702604	HepG2	liver:	n/a	n/a
31	TBL1XR1	chr9:139701641-139701693	GM12878	blood:	n/a	n/a
32	CHD1	chr9:139701333-139704099	IMR90	lung:	n/a	n/a
33	ZNF263	chr9:139700970-139702773	HEK293-T-REx	kidney:	n/a	n/a
34	POLR2A	chr9:139701645-139702745	MCF-7	breast:	n/a	n/a
35	STAT5A	chr9:139701622-139701851	GM12878	blood:	n/a	n/a
36	MAX	chr9:139701596-139702505	SK-N-SH	brain:	n/a	n/a
37	MTA3	chr9:139701290-139702421	GM12878	blood:	n/a	n/a
38	POLR2A	chr9:139696224-139702583	HepG2	liver:	n/a	n/a
39	MAX	chr9:139701552-139703314	A549	lung:	n/a	n/a
40	TCF12	chr9:139701631-139702493	A549	lung:	n/a	n/a
41	TAF1	chr9:139701654-139703570	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr9:139701597-139702675	GM12878	blood:	n/a	n/a
43	POLR2A	chr9:139701041-139703213	MCF-7	breast:	n/a	n/a
44	JUN	chr9:139701139-139704166	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139701620-139701670	HUVEC	blood vessel:	n/a
2	chr9:139701620-139701670	PFSK-1	brain:	n/a
3	chr9:139701620-139701670	AG04449	skin:	fetal
4	chr9:139701620-139701670	HL-60	blood:	n/a
5	chr9:139701620-139701670	HIPEpiC	eye:	n/a
6	chr9:139701620-139701670	MCF-7	breast:	n/a
7	chr9:139701620-139701670	ovcar-3	ovarian:	n/a
8	chr9:139701620-139701670	Caco-2	colon:	n/a
9	chr9:139701620-139701670	HEK293	kidney:	embryo
10	chr9:139701620-139701670	HCF	heart:	n/a
11	chr9:139701620-139701670	HCM	heart:	n/a
12	chr9:139701620-139701670	AG09319	gingival:	n/a
13	chr9:139701620-139701670	HepG2	liver:	n/a
14	chr9:139701620-139701670	CMK	blood:	n/a
15	chr9:139701620-139701670	HRCEpiC	kidney:	n/a
16	chr9:139701620-139701670	HCPEpiC	choroid plexus:	n/a
17	chr9:139701620-139701670	IMR90	lung:	fetal
18	chr9:139701620-139701670	HMEC	breast:	n/a
19	chr9:139701620-139701670	SAEC	small airway:	n/a
20	chr9:139701620-139701670	HAEpiC	amniotic membrane:	n/a
21	chr9:139701620-139701670	HRPEpiC	eye:	n/a
22	chr9:139701620-139701670	U87	brain:	n/a
23	chr9:139701620-139701670	K562	blood:	n/a
24	chr9:139701620-139701670	SK-N-SH	brain:	n/a
25	chr9:139701620-139701670	SK-N-SH_RA	brain:	n/a
26	chr9:139701620-139701670	HRE	kidney:	n/a
27	chr9:139701620-139701670	GM06990	blood:	n/a
28	chr9:139701620-139701670	RPTEC	kidney:	n/a
29	chr9:139701620-139701670	NB4	blood:	n/a
30	chr9:139701620-139701670	PrEC	prostate:	n/a
31	chr9:139701620-139701670	HPAEpiC	pulmonary alveolar:	n/a
32	chr9:139701620-139701670	Hela-S3	cervix:	n/a
33	chr9:139701620-139701670	NHDF-neo	bronchial:	n/a
34	chr9:139701620-139701670	AG04450	lung:	fetal
35	chr9:139701620-139701670	HCT-116	colon:	n/a
36	chr9:139701620-139701670	NH-A	brain:	n/a
37	chr9:139701620-139701670	GM12878	blood:	n/a
38	chr9:139701620-139701670	Hepatocyte	liver:	n/a
39	chr9:139701620-139701670	ProgFib	skin:	n/a
40	chr9:139701620-139701670	GM12892	blood:	n/a
41	chr9:139701620-139701670	H1-hESC	embryonic stem cell:	embryo
42	chr9:139701620-139701670	NHBE	bronchial:	n/a
43	chr9:139701620-139701670	SK-N-MC	brain:	n/a
44	chr9:139701620-139701670	T-47D	breast:	n/a
45	chr9:139701620-139701670	ECC-1	luminal epithelium:	n/a
46	chr9:139701620-139701670	AG09309	skin:	n/a
47	chr9:139701620-139701670	MCF10A-Er-Src	breast:	n/a
48	chr9:139701620-139701670	PANC-1	pancreas:	n/a
49	chr9:139701620-139701670	BJ	skin:	n/a
50	chr9:139701620-139701670	AoSMC	blood vessel:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:139700801..139702850-chr9:139780217..139783143,3	MCF-7	breast:
2	chr9:139701264..139707085-chr9:139739803..139744391,11	K562	blood:
3	chr9:139701630..139703983-chr9:139840278..139843245,2	MCF-7	breast:
4	chr9:139699636..139703789-chr9:139778857..139781848,5	MCF-7	breast:
5	chr9:139699496..139701680-chr9:139843463..139845874,2	MCF-7	breast:
6	chr9:139700573..139702712-chr9:139938493..139941281,2	MCF-7	breast:
7	chr9:139635265..139637376-chr9:139701169..139703392,2	MCF-7	breast:
8	chr9:139620633..139624484-chr9:139701088..139704302,3	MCF-7	breast:
9	chr9:139697895..139704462-chr9:139739339..139746143,17	MCF-7	breast:
10	chr9:139620752..139623162-chr9:139701207..139703819,3	MCF-7	breast:
11	chr9:139701574..139704508-chr9:139876130..139878541,2	MCF-7	breast:
12	chr9:139700428..139703391-chr9:139838721..139840265,2	K562	blood:
13	chr9:139700681..139703866-chr9:139737096..139739272,3	K562	blood:
14	chr9:139700783..139704269-chr9:139871930..139874746,3	MCF-7	breast:
15	chr9:139700744..139703830-chr9:139726844..139729761,3	K562	blood:
16	chr9:139698288..139709144-chr9:139715250..139723582,16	K562	blood:
17	chr9:139700518..139703156-chr9:139727225..139729824,2	MCF-7	breast:
18	chr9:139701089..139706669-chr9:139713669..139720225,10	K562	blood:
19	chr9:139621081..139623716-chr9:139698573..139702303,4	K562	blood:
20	chr9:139701264..139705082-chr9:139739803..139744148,9	K562	blood:
21	chr9:139699972..139703732-chr9:139919603..139923432,3	MCF-7	breast:
22	chr9:139700935..139704545-chr9:139722061..139725929,7	MCF-7	breast:
23	chr9:139619397..139623930-chr9:139697890..139705766,16	K562	blood:
24	chr9:139682195..139706361-chr9:139728316..139752024,110	MCF-7	breast:
25	chr9:139681106..139687354-chr9:139701145..139707280,8	K562	blood:
26	chr9:139558959..139561625-chr9:139700574..139703522,2	MCF-7	breast:

No data

Variant related genes	Relation type
RABL6	TF binding region
RABL6	CpG island
ENSG00000272896	Chromatin interaction
ENSG00000127191	Chromatin interaction
ENSG00000233016	Chromatin interaction
ENSG00000184925	Chromatin interaction
ENSG00000107317	Chromatin interaction
ENSG00000107331	Chromatin interaction
ENSG00000266507	Chromatin interaction
ENSG00000196642	Chromatin interaction
ENSG00000107281	Chromatin interaction
ENSG00000187922	Chromatin interaction
ENSG00000177943	Chromatin interaction
ENSG00000244187	Chromatin interaction
ENSG00000214402	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000180539	Chromatin interaction
ENSG00000232434	Chromatin interaction
ENSG00000265806	Chromatin interaction
ENSG00000176919	Chromatin interaction
ENSG00000159069	Chromatin interaction
ENSG00000172889	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10870131	0.89[EUR][1000 genomes]
rs11537630	0.93[EUR][1000 genomes]
rs2247643	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2254143	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484661	0.94[CEU][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs2784089	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2784091	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2784092	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2784093	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2784094	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2784097	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2811723	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2811747	0.88[ASN][1000 genomes]
rs2811749	0.88[CEU][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs2811750	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2811754	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2811756	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2811793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811794	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3739944	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242707	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62581427	0.94[EUR][1000 genomes]
rs7864908	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849811	chr9:138939662-139755001	Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
2	esv1822553	chr9:138967205-139755539	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
3	esv1851120	chr9:139101947-139711758	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	275 gene(s)	inside rSNPs	diseases
4	nsv430118	chr9:139101947-139795504	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	299 gene(s)	inside rSNPs	diseases
5	nsv540342	chr9:139218422-139973312	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	317 gene(s)	inside rSNPs	diseases
6	esv2758204	chr9:139252829-139826485	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	270 gene(s)	inside rSNPs	diseases
7	esv2759720	chr9:139252829-139826485	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	270 gene(s)	inside rSNPs	diseases
8	nsv469918	chr9:139254317-140068342	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
9	esv1799492	chr9:139341612-139711758	Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
10	nsv540346	chr9:139360142-140164011	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	471 gene(s)	inside rSNPs	diseases
11	nsv1039149	chr9:139376829-139991102	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	303 gene(s)	inside rSNPs	diseases
12	esv1829857	chr9:139385438-139760041	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
13	esv1819204	chr9:139388365-139758238	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
14	esv1803979	chr9:139395473-139979276	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
15	esv1831778	chr9:139395473-139979276	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
16	esv1821575	chr9:139395473-140068342	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
17	esv2422220	chr9:139478587-140244550	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	454 gene(s)	inside rSNPs	diseases
18	nsv894409	chr9:139483954-139860264	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	209 gene(s)	inside rSNPs	diseases
19	nsv894422	chr9:139487092-139776400	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
20	nsv894432	chr9:139522101-139869914	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	205 gene(s)	inside rSNPs	diseases
21	nsv894440	chr9:139544437-139841512	Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
22	nsv894441	chr9:139544437-139860264	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
23	nsv894442	chr9:139544437-140462099	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
24	nsv894450	chr9:139598108-139776400	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	130 gene(s)	inside rSNPs	diseases
25	nsv894451	chr9:139598108-139995065	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
26	nsv894452	chr9:139598108-140523429	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
27	nsv894454	chr9:139607966-139904037	Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	172 gene(s)	inside rSNPs	diseases
28	nsv894455	chr9:139607966-140411547	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	417 gene(s)	inside rSNPs	diseases
29	nsv1051605	chr9:139620105-139728697	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
30	nsv540350	chr9:139620105-139728697	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
31	nsv818738	chr9:139634495-139904037	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	126 gene(s)	inside rSNPs	diseases
32	nsv894457	chr9:139650448-139776400	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
33	nsv540351	chr9:139664948-139703627	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
34	nsv894458	chr9:139683224-139776400	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
35	nsv894459	chr9:139683224-139787453	Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
36	nsv894460	chr9:139683224-139810595	Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
37	nsv894461	chr9:139683224-139860264	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
38	nsv894462	chr9:139683224-140274164	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	353 gene(s)	inside rSNPs	diseases
39	nsv894463	chr9:139683224-140411547	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
40	esv29973	chr9:139690144-139754110	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
41	nsv894464	chr9:139690144-139776400	Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
42	nsv894465	chr9:139690144-139795504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	76 gene(s)	inside rSNPs	diseases
43	esv1846327	chr9:139690144-139841512	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	86 gene(s)	inside rSNPs	diseases
44	nsv524322	chr9:139690144-140376668	Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	371 gene(s)	inside rSNPs	diseases
45	nsv894466	chr9:139693992-139784683	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
46	nsv894467	chr9:139693992-139810595	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
47	nsv894468	chr9:139693992-139860264	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
48	nsv894469	chr9:139693992-140118448	Bivalent Enhancer Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
49	nsv894470	chr9:139693992-140339091	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	358 gene(s)	inside rSNPs	diseases
50	nsv894471	chr9:139694521-139776400	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2784098	PHPT1	cis	multi-tissue	Pritchard
rs2784098	PHPT1	cis	lymphoblastoid	seeQTL
rs2784098	FLJ40292	cis	cerebellum	SCAN
rs2784098	C9orf163	cis	parietal	SCAN
rs2784098	TMEM141	cis	parietal	SCAN
rs2784098	BRD3	cis	cerebellum	SCAN
rs2784098	NDOR1	cis	parietal	SCAN
rs2784098	GBGT1	cis	parietal	SCAN
rs2784098	PAEP	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139699400-139701800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:139700600-139702000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr9:139700600-139702000	Enhancers	Fetal Brain Male	brain
4	chr9:139700800-139701800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:139700800-139701800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr9:139700800-139701800	Flanking Active TSS	Hela-S3	cervix
7	chr9:139700800-139702000	Flanking Active TSS	Colonic Mucosa	Colon
8	chr9:139700800-139702000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr9:139700800-139702000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr9:139700800-139702000	Flanking Active TSS	Dnd41	blood
11	chr9:139701000-139701800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:139701000-139701800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:139701000-139701800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:139701000-139701800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr9:139701000-139701800	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr9:139701000-139701800	Flanking Active TSS	GM12878-XiMat	blood
17	chr9:139701000-139702000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr9:139701000-139702000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr9:139701000-139702000	Flanking Active TSS	K562	blood
20	chr9:139701000-139702200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr9:139701000-139704000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:139701200-139701800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:139701200-139701800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:139701200-139701800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:139701200-139701800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:139701200-139701800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr9:139701200-139701800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:139701200-139701800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:139701200-139701800	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr9:139701200-139701800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr9:139701200-139701800	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr9:139701200-139701800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr9:139701200-139701800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:139701200-139701800	Flanking Active TSS	Esophagus	oesophagus
35	chr9:139701200-139701800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
36	chr9:139701200-139701800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr9:139701200-139701800	Flanking Active TSS	A549	lung
38	chr9:139701200-139701800	Bivalent/Poised TSS	HepG2	liver
39	chr9:139701200-139702000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:139701200-139702000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr9:139701200-139702000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:139701200-139702000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr9:139701200-139702000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:139701200-139702000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:139701200-139702000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr9:139701200-139702000	Flanking Active TSS	Liver	Liver
47	chr9:139701200-139702000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr9:139701200-139702000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr9:139701200-139702000	Flanking Active TSS	Fetal Brain Female	brain
50	chr9:139701200-139702000	Flanking Active TSS	Placenta	Placenta

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