Variant report

Variant	rs17884589
Chromosome Location	chr7:100493711-100493712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr7:100493580-100494000	K562	blood:	n/a	chr7:100493755-100493766
2	BHLHE40	chr7:100493664-100494277	K562	blood:	n/a	n/a
3	TBL1XR1	chr7:100493658-100494091	K562	blood:	n/a	n/a
4	POLR2A	chr7:100493215-100493986	K562	blood:	n/a	n/a
5	JUN	chr7:100493191-100496118	K562	blood:	n/a	chr7:100494328-100494341 chr7:100493521-100493530
6	TEAD4	chr7:100493666-100494337	K562	blood:	n/a	n/a
7	HEY1	chr7:100493570-100493902	K562	blood:	n/a	n/a
8	USF1	chr7:100493620-100493954	H1-hESC	embryonic stem cell:	n/a	chr7:100493755-100493766
9	MAX	chr7:100493689-100494367	H1-hESC	embryonic stem cell:	n/a	chr7:100493756-100493765 chr7:100493755-100493766
10	MAX	chr7:100493680-100493970	GM12878	blood:	n/a	chr7:100493756-100493765 chr7:100493755-100493766
11	CTCF	chr7:100493591-100495920	SK-N-SH	brain:	n/a	chr7:100494903-100494919 chr7:100494902-100494920 chr7:100494902-100494915 chr7:100494142-100494151 chr7:100494905-100494918 chr7:100494905-100494918 chr7:100494904-100494925
12	MAX	chr7:100493550-100494585	ECC-1	luminal epithelium:	n/a	chr7:100493756-100493765 chr7:100493755-100493766
13	GABPA	chr7:100493590-100494380	K562	blood:	n/a	n/a
14	NR2F2	chr7:100493577-100494443	K562	blood:	n/a	n/a
15	USF1	chr7:100493640-100494045	A549	lung:	n/a	chr7:100493755-100493766
16	MYC	chr7:100493631-100495749	K562	blood:	n/a	chr7:100493756-100493765 chr7:100494831-100494840 chr7:100493755-100493766
17	USF1	chr7:100493579-100493992	SK-N-SH_RA	brain:	n/a	chr7:100493755-100493766
18	USF2	chr7:100493704-100493980	H1-hESC	embryonic stem cell:	n/a	n/a
19	HMGN3	chr7:100492415-100495041	K562	blood:	n/a	n/a
20	ZBTB7A	chr7:100492182-100495231	K562	blood:	n/a	n/a
21	UBTF	chr7:100492437-100494200	K562	blood:	n/a	n/a
22	POLR2A	chr7:100493562-100495029	H1-neurons	neurons:	n/a	n/a
23	EGR1	chr7:100493055-100494141	MCF-7	breast:	n/a	chr7:100493231-100493244 chr7:100493232-100493243 chr7:100493233-100493243 chr7:100493231-100493244 chr7:100493231-100493245 chr7:100493233-100493243 chr7:100493508-100493522 chr7:100493531-100493545 chr7:100493227-100493249 chr7:100493231-100493244 chr7:100493234-100493243 chr7:100493581-100493595 chr7:100493232-100493243 chr7:100493562-100493576 chr7:100493233-100493242 chr7:100493256-100493266 chr7:100493512-100493522
24	TAF1	chr7:100493578-100493777	K562	blood:	n/a	n/a
25	MAX	chr7:100493658-100494577	H1-hESC	embryonic stem cell:	n/a	chr7:100493756-100493765 chr7:100493755-100493766
26	HEY1	chr7:100493582-100493852	HepG2	liver:	n/a	n/a
27	MAX	chr7:100493587-100495235	K562	blood:	n/a	chr7:100493756-100493765 chr7:100494831-100494840 chr7:100493755-100493766
28	USF1	chr7:100493596-100493916	A549	lung:	n/a	chr7:100493755-100493766
29	E2F6	chr7:100493618-100495225	K562	blood:	n/a	n/a
30	BACH1	chr7:100493709-100495065	H1-hESC	embryonic stem cell:	n/a	n/a
31	USF1	chr7:100493608-100493898	HepG2	liver:	n/a	chr7:100493755-100493766
32	SIN3AK20	chr7:100493295-100493910	K562	blood:	n/a	n/a
33	GTF2F1	chr7:100493702-100493816	K562	blood:	n/a	n/a
34	PAX5	chr7:100493629-100494117	GM12878	blood:	n/a	chr7:100493930-100493948
35	MAX	chr7:100493602-100494613	H1-hESC	embryonic stem cell:	n/a	chr7:100493756-100493765 chr7:100493755-100493766
36	POLR2A	chr7:100493662-100493878	HepG2	liver:	n/a	n/a
37	HDAC2	chr7:100493594-100494566	K562	blood:	n/a	n/a
38	ZBTB7A	chr7:100493557-100494629	K562	blood:	n/a	n/a
39	MAX	chr7:100493443-100494663	MCF-7	breast:	n/a	chr7:100493756-100493765 chr7:100493755-100493766
40	USF1	chr7:100493636-100493866	A549	lung:	n/a	chr7:100493755-100493766
41	POLR2A	chr7:100493461-100493950	K562	blood:	n/a	n/a
42	SIN3AK20	chr7:100493077-100494075	PANC-1	pancreas:	n/a	n/a
43	MAX	chr7:100493568-100496026	K562	blood:	n/a	chr7:100493756-100493765 chr7:100494831-100494840 chr7:100493755-100493766
44	HDAC2	chr7:100492345-100495320	MCF-7	breast:	n/a	n/a
45	EGR1	chr7:100492691-100494069	K562	blood:	n/a	chr7:100493231-100493244 chr7:100493232-100493243 chr7:100493233-100493243 chr7:100493231-100493244 chr7:100493231-100493245 chr7:100492856-100492869 chr7:100493233-100493243 chr7:100493508-100493522 chr7:100493531-100493545 chr7:100493227-100493249 chr7:100492860-100492870 chr7:100493231-100493244 chr7:100492743-100492756 chr7:100493234-100493243 chr7:100493581-100493595 chr7:100493232-100493243 chr7:100493562-100493576 chr7:100493233-100493242 chr7:100493256-100493266 chr7:100493512-100493522
46	USF1	chr7:100493639-100493892	GM12878	blood:	n/a	chr7:100493755-100493766
47	USF2	chr7:100493664-100493936	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:100493576-100493790	K562	blood:	n/a	n/a
49	RUNX3	chr7:100493711-100494011	GM12878	blood:	n/a	n/a
50	CTBP2	chr7:100493682-100494302	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100493710-100493760	NHBE	bronchial:	n/a
2	chr7:100493710-100493760	Jurkat	blood:	n/a
3	chr7:100493710-100493760	PFSK-1	brain:	n/a
4	chr7:100493710-100493760	NT2-D1	testis:	n/a
5	chr7:100493710-100493760	ovcar-3	ovarian:	n/a
6	chr7:100493710-100493760	LNCaP	prostate:	n/a
7	chr7:100493710-100493760	HL-60	blood:	n/a
8	chr7:100493710-100493760	MCF10A-Er-Src	breast:	n/a
9	chr7:100493710-100493760	SKMC	muscle:	n/a
10	chr7:100493710-100493760	SK-N-MC	brain:	n/a
11	chr7:100493710-100493760	GM06990	blood:	n/a
12	chr7:100493710-100493760	CMK	blood:	n/a
13	chr7:100493710-100493760	BE2_C	brain:	n/a
14	chr7:100493710-100493760	HCM	heart:	n/a
15	chr7:100493710-100493760	AoSMC	blood vessel:	n/a
16	chr7:100493710-100493760	SAEC	small airway:	n/a
17	chr7:100493710-100493760	AG10803	skin:	n/a
18	chr7:100493710-100493760	NHDF-neo	bronchial:	n/a
19	chr7:100493710-100493760	HMEC	breast:	n/a
20	chr7:100493710-100493760	IMR90	lung:	fetal
21	chr7:100493710-100493760	HUVEC	blood vessel:	n/a
22	chr7:100493710-100493760	GM12891	blood:	n/a
23	chr7:100493710-100493760	PrEC	prostate:	n/a
24	chr7:100493710-100493760	HAEpiC	amniotic membrane:	n/a
25	chr7:100493710-100493760	Caco-2	colon:	n/a
26	chr7:100493710-100493760	H1-hESC	embryonic stem cell:	embryo
27	chr7:100493710-100493760	HEK293	kidney:	embryo
28	chr7:100493710-100493760	U87	brain:	n/a
29	chr7:100493710-100493760	RPTEC	kidney:	n/a
30	chr7:100493710-100493760	HNPCEpiC	eye:	n/a
31	chr7:100493710-100493760	A549	lung:	n/a
32	chr7:100493710-100493760	NH-A	brain:	n/a
33	chr7:100493710-100493760	GM12892	blood:	n/a
34	chr7:100493710-100493760	AG04449	skin:	fetal
35	chr7:100493710-100493760	HCT-116	colon:	n/a
36	chr7:100493710-100493760	AG09309	skin:	n/a
37	chr7:100493710-100493760	GM12878	blood:	n/a
38	chr7:100493710-100493760	AG04450	lung:	fetal
39	chr7:100493710-100493760	PANC-1	pancreas:	n/a
40	chr7:100493710-100493760	HRPEpiC	eye:	n/a
41	chr7:100493710-100493760	Hepatocyte	liver:	n/a
42	chr7:100493710-100493760	ProgFib	skin:	n/a
43	chr7:100493710-100493760	K562	blood:	n/a
44	chr7:100493710-100493760	HEEpiC	esophagus:	n/a
45	chr7:100493710-100493760	T-47D	breast:	n/a
46	chr7:100493710-100493760	ECC-1	luminal epithelium:	n/a
47	chr7:100493710-100493760	HRCEpiC	kidney:	n/a
48	chr7:100493710-100493760	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:100493710-100493760	Hela-S3	cervix:	n/a
50	chr7:100493710-100493760	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100491420..100497264-chr7:100607951..100612175,9	K562	blood:
2	chr7:100493649..100495175-chr7:100549463..100550982,2	MCF-7	breast:
3	chr7:100491799..100497264-chr7:100607837..100612175,9	K562	blood:
4	chr7:100493490..100497118-chr7:100701265..100703603,3	K562	blood:
5	chr7:100270007..100272523-chr7:100492882..100494851,2	K562	blood:
6	chr7:100492344..100495062-chr7:100726871..100729209,3	MCF-7	breast:
7	chr7:100491373..100494455-chr7:100609680..100612292,3	MCF-7	breast:
8	chr7:100491924..100495059-chr7:100886100..100889819,5	MCF-7	breast:
9	chr7:100492733..100496183-chr7:100699112..100703676,5	MCF-7	breast:
10	chr7:100491458..100494589-chr7:100859109..100862606,4	MCF-7	breast:

Variant related genes	Relation type
ACHE	TF binding region
ACHE	CpG island
ENSG00000169871	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000222636	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000169894	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000106400	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs12666989	0.92[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12667888	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12705089	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12705090	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12705091	0.82[ASW][hapmap];0.87[CEU][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs12705092	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12705095	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12705096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226502	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13226864	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13244629	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245899	0.87[CEU][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs13306969	0.81[CEU][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs17881696	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17883557	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221005	1.00[CHB][hapmap]
rs314308	1.00[CHB][hapmap]
rs314311	1.00[CHB][hapmap]
rs314316	1.00[CHB][hapmap]
rs314346	1.00[CHB][hapmap]
rs314361	1.00[CHB][hapmap]
rs314370	0.82[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs314373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3757868	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6706	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking 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 miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer 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	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	89 gene(s)	inside rSNPs	diseases
10	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	90 gene(s)	inside rSNPs	diseases
13	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
14	nsv888802	chr7:100484917-100495530	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv888803	chr7:100486656-100497131	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
16	nsv888804	chr7:100486754-100494202	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv888805	chr7:100486754-100498057	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv888806	chr7:100488407-100495530	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
19	nsv888807	chr7:100490077-100498057	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv888808	chr7:100490981-100498057	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv888809	chr7:100491451-100495530	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv888810	chr7:100492127-100495530	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv888811	chr7:100492127-100497131	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv888812	chr7:100492127-100498057	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
25	nsv888813	chr7:100492322-100495530	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv607969	chr7:100492357-100493998	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv888814	chr7:100492357-100495530	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	nsv888815	chr7:100492357-100497131	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
29	nsv607970	chr7:100492493-100494949	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs17884589	C7orf59	cis	parietal	SCAN
rs17884589	ACHE	cis	Artery Aorta	GTEx
rs17884589	ACHE	cis	Nerve Tibial	GTEx
rs17884589	ALKBH4	cis	parietal	SCAN
rs17884589	TRIM4	cis	cerebellum	SCAN
rs17884589	ALKBH4	cis	cerebellum	SCAN
rs17884589	ZNF3	cis	parietal	SCAN
rs17884589	ACHE	cis	Artery Tibial	GTEx
rs17884589	MCM7	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100491800-100493800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr7:100491800-100495000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:100492000-100493800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:100492000-100493800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:100492000-100494000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:100492200-100493800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:100492200-100493800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:100492200-100493800	Active TSS	HepG2	liver
9	chr7:100492200-100494200	Bivalent Enhancer	Spleen	Spleen
10	chr7:100492200-100495000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:100492400-100493800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:100492400-100493800	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:100492400-100493800	Bivalent/Poised TSS	Thymus	Thymus
14	chr7:100492400-100494000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:100492400-100494200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr7:100492400-100494400	Active TSS	Psoas Muscle	Psoas
17	chr7:100492600-100493800	Enhancers	Liver	Liver
18	chr7:100492600-100493800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
19	chr7:100492600-100493800	Active TSS	Brain Anterior Caudate	brain
20	chr7:100492600-100493800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:100492600-100493800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr7:100492600-100493800	Active TSS	Ovary	ovary
23	chr7:100492600-100493800	Active TSS	HSMMtube	muscle
24	chr7:100492600-100495000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:100492800-100493800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:100492800-100493800	Enhancers	Fetal Heart	heart
27	chr7:100493000-100493800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:100493000-100493800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr7:100493000-100493800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:100493000-100493800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
31	chr7:100493000-100493800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr7:100493000-100493800	Bivalent/Poised TSS	NH-A	brain
33	chr7:100493000-100494600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:100493200-100493800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
35	chr7:100493200-100493800	Enhancers	Lung	lung
36	chr7:100493200-100494400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
37	chr7:100493400-100493800	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:100493400-100493800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:100493400-100493800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:100493400-100493800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:100493400-100493800	Bivalent Enhancer	Brain Hippocampus Middle	brain
42	chr7:100493400-100493800	Bivalent/Poised TSS	Esophagus	oesophagus
43	chr7:100493400-100493800	Enhancers	Gastric	stomach
44	chr7:100493400-100493800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
45	chr7:100493400-100494000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr7:100493400-100494000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:100493400-100494000	Bivalent Enhancer	Colon Smooth Muscle	Colon
48	chr7:100493400-100494000	Enhancers	Pancreas	Pancrea
49	chr7:100493400-100494000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
50	chr7:100493400-100494200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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