Variant report

Variant	rs1188721
Chromosome Location	chr1:228464248-228464249
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:228464180-228464314	GM12878	blood:	n/a	n/a
2	MAX	chr1:228463114-228464474	H1-hESC	embryonic stem cell:	n/a	chr1:228464133-228464140 chr1:228464032-228464041
3	CTBP2	chr1:228463507-228464410	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr1:228462969-228464482	K562	blood:	n/a	chr1:228464133-228464140 chr1:228464032-228464041
5	ZNF263	chr1:228463050-228464329	K562	blood:	n/a	chr1:228463756-228463777 chr1:228463818-228463839
6	BHLHE40	chr1:228463526-228464452	K562	blood:	n/a	n/a
7	MXI1	chr1:228462959-228464346	IMR90	lung:	n/a	n/a
8	MAX	chr1:228462751-228464565	K562	blood:	n/a	chr1:228464133-228464140 chr1:228464032-228464041
9	USF2	chr1:228464242-228464267	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:228462462-228464298	K562	blood:	n/a	n/a
11	MAZ	chr1:228463122-228464592	IMR90	lung:	n/a	chr1:228464133-228464140 chr1:228464032-228464041
12	E2F6	chr1:228462866-228464538	K562	blood:	n/a	chr1:228463368-228463378
13	TCF3	chr1:228464083-228464488	GM12878	blood:	n/a	n/a
14	CBX3	chr1:228464023-228464454	K562	blood:	n/a	n/a
15	MYC	chr1:228463048-228464394	K562	blood:	n/a	chr1:228464133-228464140 chr1:228464032-228464041
16	MAZ	chr1:228462906-228464650	K562	blood:	n/a	chr1:228464133-228464140 chr1:228464032-228464041
17	MAX	chr1:228463105-228464537	H1-hESC	embryonic stem cell:	n/a	chr1:228464133-228464140 chr1:228464032-228464041
18	HMGN3	chr1:228463005-228464399	K562	blood:	n/a	n/a
19	BHLHE40	chr1:228464054-228464435	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:228464069-228464318	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr1:228464167-228464458	K562	blood:	n/a	n/a
22	USF2	chr1:228464185-228464289	H1-hESC	embryonic stem cell:	n/a	n/a
23	NR2F2	chr1:228464210-228464583	K562	blood:	n/a	n/a
24	CCNT2	chr1:228464039-228464430	K562	blood:	n/a	n/a
25	POLR2A	chr1:228463669-228464337	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3A	chr1:228463050-228464420	H1-hESC	embryonic stem cell:	n/a	chr1:228463377-228463388 chr1:228463342-228463355 chr1:228463377-228463390
27	MXI1	chr1:228464218-228464367	GM12878	blood:	n/a	n/a
28	E2F6	chr1:228463999-228464475	K562	blood:	n/a	n/a
29	GABPA	chr1:228463984-228464418	H1-hESC	embryonic stem cell:	n/a	n/a
30	MXI1	chr1:228464071-228464357	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228464232-228464282	T-47D	breast:	n/a
2	chr1:228464232-228464282	U87	brain:	n/a
3	chr1:228464232-228464282	HNPCEpiC	eye:	n/a
4	chr1:228464232-228464282	HCF	heart:	n/a
5	chr1:228464232-228464282	HUVEC	blood vessel:	n/a
6	chr1:228464232-228464282	HRCEpiC	kidney:	n/a
7	chr1:228464232-228464282	GM12878	blood:	n/a
8	chr1:228464232-228464282	SK-N-MC	brain:	n/a
9	chr1:228464232-228464282	GM19239	blood:	n/a
10	chr1:228464232-228464282	AoSMC	blood vessel:	n/a
11	chr1:228464232-228464282	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:228464232-228464282	Jurkat	blood:	n/a
13	chr1:228464232-228464282	SAEC	small airway:	n/a
14	chr1:228464232-228464282	BE2_C	brain:	n/a
15	chr1:228464232-228464282	SK-N-SH	brain:	n/a
16	chr1:228464232-228464282	HCM	heart:	n/a
17	chr1:228464232-228464282	A549	lung:	n/a
18	chr1:228464232-228464282	RPTEC	kidney:	n/a
19	chr1:228464232-228464282	HAEpiC	amniotic membrane:	n/a
20	chr1:228464232-228464282	HepG2	liver:	n/a
21	chr1:228464232-228464282	HMEC	breast:	n/a
22	chr1:228464232-228464282	SKMC	muscle:	n/a
23	chr1:228464232-228464282	Hela-S3	cervix:	n/a
24	chr1:228464232-228464282	PrEC	prostate:	n/a
25	chr1:228464232-228464282	HIPEpiC	eye:	n/a
26	chr1:228464232-228464282	NHBE	bronchial:	n/a
27	chr1:228464232-228464282	AG10803	skin:	n/a
28	chr1:228464232-228464282	NH-A	brain:	n/a
29	chr1:228464232-228464282	Caco-2	colon:	n/a
30	chr1:228464232-228464282	AG04450	lung:	fetal
31	chr1:228464232-228464282	CMK	blood:	n/a
32	chr1:228464232-228464282	ovcar-3	ovarian:	n/a
33	chr1:228464232-228464282	NT2-D1	testis:	n/a
34	chr1:228464232-228464282	AG09309	skin:	n/a
35	chr1:228464232-228464282	AG09319	gingival:	n/a
36	chr1:228464232-228464282	HRPEpiC	eye:	n/a
37	chr1:228464232-228464282	ProgFib	skin:	n/a
38	chr1:228464232-228464282	H1-hESC	embryonic stem cell:	embryo
39	chr1:228464232-228464282	GM12891	blood:	n/a
40	chr1:228464232-228464282	MCF10A-Er-Src	breast:	n/a
41	chr1:228464232-228464282	NHDF-neo	bronchial:	n/a
42	chr1:228464232-228464282	PFSK-1	brain:	n/a
43	chr1:228464232-228464282	GM12892	blood:	n/a
44	chr1:228464232-228464282	IMR90	lung:	fetal
45	chr1:228464232-228464282	GM06990	blood:	n/a
46	chr1:228464232-228464282	SK-N-SH_RA	brain:	n/a
47	chr1:228464232-228464282	K562	blood:	n/a
48	chr1:228464232-228464282	MCF-7	breast:	n/a
49	chr1:228464232-228464282	HCT-116	colon:	n/a
50	chr1:228464232-228464282	ECC-1	luminal epithelium:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228353494..228355911-chr1:228462112..228465805,3	K562	blood:
2	chr1:228463910..228466494-chr1:228485377..228488310,3	K562	blood:
3	chr1:228461911..228467066-chr1:228644143..228647181,7	K562	blood:
4	chr1:228293306..228296150-chr1:228462712..228464969,2	K562	blood:
5	chr1:228326053..228331395-chr1:228462710..228467617,6	K562	blood:
6	chr1:228461911..228467066-chr1:228644125..228647181,7	K562	blood:
7	chr1:228351819..228355005-chr1:228461791..228464668,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269890	TF binding region
OBSCN	TF binding region
ENSG00000269934	TF binding region
ENSG00000269890	CpG island
OBSCN	CpG island
ENSG00000269934	CpG island
ENSG00000154358	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000162910	Chromatin interaction
ENSG00000203684	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10737429	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10916293	0.92[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs1150908	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1150909	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1150912	0.85[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1150915	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1188696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1188704	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1188722	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1188724	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1188728	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1188729	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1188732	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12022917	0.81[YRI][hapmap]
rs12035900	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12142165	0.81[MEX][hapmap]
rs12401463	0.84[EUR][1000 genomes]
rs1411912	0.85[ASW][hapmap];0.92[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1411915	0.92[CEU][hapmap];0.82[GIH][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1757130	0.81[EUR][1000 genomes]
rs1771455	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs1771456	0.81[EUR][1000 genomes]
rs1771457	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1888680	0.92[CEU][hapmap];0.84[AMR][1000 genomes]
rs1888681	0.92[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs207951	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2150669	0.92[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs2487384	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs287607	0.89[EUR][1000 genomes]
rs287613	0.84[CEU][hapmap];0.84[AMR][1000 genomes]
rs369252	0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs373610	0.92[CEU][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs3738685	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs378090	0.83[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3795780	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs379620	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs419173	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs419338	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs450088	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4653932	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs533738	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55756479	0.92[ASN][1000 genomes]
rs562634	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs564636	0.81[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6426493	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs6426494	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6426495	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6665929	0.81[EUR][1000 genomes]
rs6668967	0.92[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs6677503	0.81[EUR][1000 genomes]
rs72762063	0.92[ASN][1000 genomes]
rs7517088	0.92[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs7517108	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7526808	0.81[EUR][1000 genomes]
rs7529241	0.81[EUR][1000 genomes]
rs7532144	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs7535667	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs867599	0.96[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs878388	0.85[ASW][hapmap];0.96[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs883749	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs936885	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs947084	0.92[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS 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	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
9	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv873264	chr1:228423647-228543800	Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv873265	chr1:228434395-228525008	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv873266	chr1:228434395-228537942	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv873267	chr1:228434395-228585837	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	nsv873268	chr1:228442663-228537942	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv873269	chr1:228442663-228543800	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
18	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv873271	chr1:228450868-228470995	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv873272	chr1:228450868-228538968	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv873273	chr1:228450868-228556788	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv873274	chr1:228450868-228585837	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
23	esv1798020	chr1:228456147-228556788	Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	esv1818776	chr1:228456147-228556788	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
25	nsv873275	chr1:228456147-228585837	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
26	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
27	nsv873276	chr1:228456943-228585837	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
28	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
29	nsv827064	chr1:228459934-228469437	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv549292	chr1:228464248-228474817	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
31	esv1808871	chr1:228464248-228529606	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
32	nsv549293	chr1:228464248-228529606	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
33	esv1850422	chr1:228464248-228556788	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
34	nsv468260	chr1:228464248-228556788	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
35	nsv549294	chr1:228464248-228556788	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
36	nsv873277	chr1:228464248-228556788	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
37	nsv873278	chr1:228464248-228585837	Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
38	nsv468271	chr1:228464248-228601638	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
39	nsv468283	chr1:228464248-228601638	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
40	nsv468294	chr1:228464248-228601638	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
41	nsv549295	chr1:228464248-228601638	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
42	nsv470780	chr1:228464248-228606965	Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1188721	DUSP5P	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228455400-228484800	Weak transcription	A549	lung
2	chr1:228456400-228485800	Weak transcription	Hela-S3	cervix
3	chr1:228457200-228472000	Weak transcription	Fetal Heart	heart
4	chr1:228459800-228469600	Weak transcription	HSMMtube	muscle
5	chr1:228462600-228464400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:228462800-228464400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:228462800-228464400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:228462800-228464400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr1:228462800-228464400	Active TSS	Fetal Kidney	kidney
10	chr1:228462800-228464400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
11	chr1:228462800-228464400	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr1:228462800-228464600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:228462800-228464600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr1:228462800-228464600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
15	chr1:228463000-228464400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:228463000-228464400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:228463000-228464400	Active TSS	Primary T cells from cord blood	blood
18	chr1:228463000-228464400	Active TSS	Brain Cingulate Gyrus	brain
19	chr1:228463000-228464400	Active TSS	Brain Substantia Nigra	brain
20	chr1:228463000-228464400	Active TSS	Fetal Brain Female	brain
21	chr1:228463000-228464400	Active TSS	Right Atrium	heart
22	chr1:228463000-228464400	Transcr. at gene 5' and 3'	Right Ventricle	heart
23	chr1:228463000-228464400	Active TSS	NHDF-Ad	bronchial
24	chr1:228463000-228464400	Active TSS	NHLF	lung
25	chr1:228463000-228464400	Active TSS	Osteobl	bone
26	chr1:228463000-228464600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr1:228463000-228464600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:228463000-228464600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr1:228463000-228465000	Enhancers	Fetal Brain Male	brain
30	chr1:228463200-228464400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:228463200-228464400	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr1:228463200-228464400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:228463200-228464400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:228463200-228464400	Active TSS	HSMM	muscle
35	chr1:228463200-228464600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr1:228463200-228464600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr1:228463200-228464600	Active TSS	Colon Smooth Muscle	Colon
38	chr1:228463200-228464600	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr1:228463400-228464400	Active TSS	Brain Hippocampus Middle	brain
40	chr1:228463400-228464400	Active TSS	GM12878-XiMat	blood
41	chr1:228463400-228464600	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr1:228463400-228465000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:228463600-228464400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:228463600-228464600	Active TSS	NH-A	brain
45	chr1:228463800-228464400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:228463800-228464400	Flanking Active TSS	Pancreas	Pancrea
47	chr1:228463800-228481400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:228464000-228464400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:228464000-228464400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:228464000-228464400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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