Variant report

Variant	rs3983284
Chromosome Location	chr7:64699988-64699989
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:64699762-64700211	A549	lung:	n/a	chr7:64700061-64700071 chr7:64700164-64700174
2	POLR2A	chr7:64699910-64700124	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:64699975-64700416	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:64699982-64700535	HCT-116	colon:	n/a	n/a
5	YY1	chr7:64699985-64700610	SK-N-SH_RA	brain:	n/a	chr7:64700541-64700552
6	POLR2A	chr7:64699979-64700037	Gliobla	brain:	n/a	n/a
7	ZBTB7A	chr7:64699909-64700731	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr7:64699913-64700736	ECC-1	luminal epithelium:	n/a	chr7:64700061-64700071 chr7:64700164-64700174
9	MAX	chr7:64699724-64700742	ECC-1	luminal epithelium:	n/a	chr7:64700061-64700071 chr7:64700164-64700174
10	YY1	chr7:64699888-64700558	SK-N-SH_RA	brain:	n/a	chr7:64700541-64700552
11	CTCF	chr7:64699920-64700070	NHEK	skin:	n/a	n/a
12	CHD2	chr7:64699883-64700003	H1-hESC	embryonic stem cell:	n/a	chr7:64699987-64699994
13	POLR2A	chr7:64699942-64700709	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr7:64699926-64700747	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr7:64699940-64700090	HRE	kidney:	n/a	n/a
16	CTCF	chr7:64699960-64700110	WERI-Rb-1	eye:	n/a	n/a
17	YY1	chr7:64699949-64700518	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:64699964-64700531	A549	lung:	n/a	n/a
19	RAD21	chr7:64699931-64700434	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	chr7:64699983-64700033	HRE	kidney:	n/a
2	chr7:64699983-64700033	NHBE	bronchial:	n/a
3	chr7:64699983-64700033	Caco-2	colon:	n/a
4	chr7:64699983-64700033	BE2_C	brain:	n/a
5	chr7:64699983-64700033	CMK	blood:	n/a
6	chr7:64699983-64700033	ECC-1	luminal epithelium:	n/a
7	chr7:64699983-64700033	PFSK-1	brain:	n/a
8	chr7:64699983-64700033	LNCaP	prostate:	n/a
9	chr7:64699983-64700033	SK-N-SH	brain:	n/a
10	chr7:64699983-64700033	ovcar-3	ovarian:	n/a
11	chr7:64699983-64700033	K562	blood:	n/a
12	chr7:64699983-64700033	PrEC	prostate:	n/a
13	chr7:64699983-64700033	SK-N-SH_RA	brain:	n/a
14	chr7:64699983-64700033	MCF10A-Er-Src	breast:	n/a
15	chr7:64699983-64700033	AG09309	skin:	n/a
16	chr7:64699983-64700033	T-47D	breast:	n/a
17	chr7:64699983-64700033	HCT-116	colon:	n/a
18	chr7:64699983-64700033	NH-A	brain:	n/a
19	chr7:64699983-64700033	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:64699983-64700033	ProgFib	skin:	n/a
21	chr7:64699983-64700033	HNPCEpiC	eye:	n/a
22	chr7:64699983-64700033	HCF	heart:	n/a
23	chr7:64699983-64700033	GM06990	blood:	n/a
24	chr7:64699983-64700033	HUVEC	blood vessel:	n/a
25	chr7:64699983-64700033	Hela-S3	cervix:	n/a
26	chr7:64699983-64700033	AG04450	lung:	fetal
27	chr7:64699983-64700033	AG04449	skin:	fetal
28	chr7:64699983-64700033	HL-60	blood:	n/a
29	chr7:64699983-64700033	AG09319	gingival:	n/a
30	chr7:64699983-64700033	NHDF-neo	bronchial:	n/a
31	chr7:64699983-64700033	GM12892	blood:	n/a
32	chr7:64699983-64700033	HAEpiC	amniotic membrane:	n/a
33	chr7:64699983-64700033	HEEpiC	esophagus:	n/a
34	chr7:64699983-64700033	U87	brain:	n/a
35	chr7:64699983-64700033	IMR90	lung:	fetal
36	chr7:64699983-64700033	HEK293	kidney:	embryo
37	chr7:64699983-64700033	GM12878	blood:	n/a
38	chr7:64699983-64700033	SAEC	small airway:	n/a
39	chr7:64699983-64700033	HIPEpiC	eye:	n/a
40	chr7:64699983-64700033	NB4	blood:	n/a
41	chr7:64699983-64700033	GM12891	blood:	n/a
42	chr7:64699983-64700033	HMEC	breast:	n/a
43	chr7:64699983-64700033	A549	lung:	n/a
44	chr7:64699983-64700033	HepG2	liver:	n/a
45	chr7:64699983-64700033	HRCEpiC	kidney:	n/a
46	chr7:64699983-64700033	SK-N-MC	brain:	n/a
47	chr7:64699983-64700033	GM19239	blood:	n/a
48	chr7:64699983-64700033	AG10803	skin:	n/a
49	chr7:64699983-64700033	NT2-D1	testis:	n/a
50	chr7:64699983-64700033	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64699829..64702415-chr7:64709337..64710930,2	K562	blood:
2	chr7:64695294..64697015-chr7:64698823..64700589,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237026	TF binding region
ENSG00000237026	CpG island

Extended variants
information (count: 248 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10085438	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs10085699	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs10214965	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs10228557	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs10229166	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs10231956	0.90[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap]
rs10234467	0.83[YRI][hapmap]
rs10239197	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs10242093	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs10252247	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10258113	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs10259348	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs10265072	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs10265083	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs11761736	0.89[CHB][hapmap]
rs11765030	0.82[GIH][hapmap]
rs11765265	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap]
rs11979359	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1594465	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs1594466	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2419416	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs28877001	0.93[YRI][hapmap]
rs2900856	0.84[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap]
rs3846970	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs3846971	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3846972	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs3857674	0.90[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap]
rs3857675	0.80[ASN][1000 genomes]
rs3981856	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs4122883	0.90[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap]
rs4392766	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs4717249	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs4717258	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs4718202	0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4718231	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs4718232	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs4718235	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs4718237	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs551599	0.90[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs575433	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs616377	0.92[ASN][1000 genomes]
rs627285	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs6460231	0.91[CHD][hapmap];0.86[GIH][hapmap]
rs673957	0.85[ASW][hapmap];0.81[YRI][hapmap]
rs6942940	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs6946169	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6956221	0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap]
rs6963801	0.82[GIH][hapmap]
rs6973554	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs7777155	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs7777563	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs7784914	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs7787403	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs7788331	0.90[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap]
rs7796077	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs7810219	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs9638441	0.86[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap]
rs9654833	0.85[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv34341	chr7:64478386-65012082	Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv916005	chr7:64499811-65012082	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv533081	chr7:64499945-65208605	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3339156	chr7:64510176-65349050	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
16	nsv888286	chr7:64529883-64800432	Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv888287	chr7:64537992-64990806	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	esv2758117	chr7:64551274-65208605	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	esv2759534	chr7:64551274-65373851	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	esv2752167	chr7:64557394-65012082	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	esv2752168	chr7:64557394-65012082	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	esv2752169	chr7:64557394-65012082	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv429768	chr7:64557394-65012082	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv1021867	chr7:64565573-65012082	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
26	nsv1032570	chr7:64565573-65184339	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
27	nsv1029343	chr7:64566957-65208605	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	nsv538894	chr7:64566957-65208605	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	nsv869856	chr7:64567013-65196403	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
30	nsv607316	chr7:64582849-65208605	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
31	nsv469565	chr7:64590611-64813395	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
32	nsv482415	chr7:64590611-64813395	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
33	esv2761084	chr7:64594065-64967767	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
34	esv2764020	chr7:64594065-65351820	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
35	nsv1032227	chr7:64594329-64917141	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
36	nsv1016806	chr7:64594329-64941887	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
37	nsv1015575	chr7:64594329-64947974	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
38	nsv1021106	chr7:64594329-64951818	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
39	nsv1016496	chr7:64594329-64960445	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
40	nsv1016392	chr7:64594329-64967755	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
41	nsv1020647	chr7:64594329-64997960	Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
42	nsv1019148	chr7:64594329-65002671	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
43	nsv1017973	chr7:64594329-65012082	Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
44	nsv1018590	chr7:64594329-65012082	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
45	nsv1021410	chr7:64594329-65012082	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
46	nsv1034505	chr7:64594329-65012082	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
47	nsv1029844	chr7:64594329-65094953	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
48	nsv1017365	chr7:64594329-65106792	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
49	nsv1032262	chr7:64594329-65161364	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
50	nsv1023425	chr7:64594329-65162170	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs3983284	GUSB	cis	parietal	SCAN
rs3983284	INTS4L1	cis	Esophagus Muscularis	GTEx
rs3983284	INTS4L1	cis	Nerve Tibial	GTEx
rs3983284	ERV3	cis	cerebellum	SCAN
rs3983284	CCT6P3	cis	Adipose Subcutaneous	GTEx
rs3983284	ZNF273	cis	cerebellum	SCAN
rs3983284	RP11-797H7.3	cis	Thyroid	GTEx
rs3983284	RP11-460N20.5	cis	Thyroid	GTEx
rs3983284	RP11-797H7.5	cis	Thyroid	GTEx
rs3983284	CCT6P3	cis	Thyroid	GTEx
rs3983284	RP11-460N20.5	cis	Nerve Tibial	GTEx
rs3983284	CCT6P3	cis	Nerve Tibial	GTEx
rs3983284	KCTD7	cis	parietal	SCAN
rs3983284	RP11-797H7.3	cis	Artery Tibial	GTEx
rs3983284	RP11-797H7.3	cis	lung	GTEx
rs3983284	INTS4L1	cis	Skin Sun Exposed Lower leg	GTEx
rs3983284	CCT6P3	cis	Skin Sun Exposed Lower leg	GTEx
rs3983284	ERV3	cis	multi-tissue	Pritchard
rs3983284	ERV3	cis	parietal	SCAN
rs3983284	RP11-797H7.3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64694400-64700000	Weak transcription	Right Atrium	heart
2	chr7:64695400-64700400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:64695600-64700400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:64696400-64700200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:64699200-64700000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:64699400-64700200	Bivalent Enhancer	Placenta	Placenta
7	chr7:64699400-64700400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
8	chr7:64699600-64700000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:64699600-64700200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:64699600-64700200	Active TSS	Primary hematopoietic stem cells	blood
11	chr7:64699600-64700200	Enhancers	Esophagus	oesophagus
12	chr7:64699600-64700600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
13	chr7:64699800-64700000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr7:64699800-64700000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:64699800-64700000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:64699800-64700000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:64699800-64700000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:64699800-64700000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:64699800-64700000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr7:64699800-64700000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:64699800-64700000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr7:64699800-64700000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:64699800-64700000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:64699800-64700000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:64699800-64700000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr7:64699800-64700000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:64699800-64700000	Enhancers	Fetal Heart	heart
28	chr7:64699800-64700000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
29	chr7:64699800-64700000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr7:64699800-64700000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:64699800-64700000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr7:64699800-64700000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr7:64699800-64700000	Enhancers	Left Ventricle	heart
34	chr7:64699800-64700000	Enhancers	Lung	lung
35	chr7:64699800-64700000	Enhancers	Ovary	ovary
36	chr7:64699800-64700000	Flanking Active TSS	Pancreas	Pancrea
37	chr7:64699800-64700000	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr7:64699800-64700200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
39	chr7:64699800-64700200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:64699800-64700200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:64699800-64700200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:64699800-64700200	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr7:64699800-64700200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr7:64699800-64700200	Flanking Active TSS	Right Ventricle	heart
45	chr7:64699800-64700200	Flanking Active TSS	Spleen	Spleen
46	chr7:64699800-64700400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:64699800-64700400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:64699800-64700400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:64699800-64700400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:64699800-64700400	Active TSS	Liver	Liver

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