Variant report

Variant	rs561363804
Chromosome Location	chr8:8559612-8559613
allele	G/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	POLR2A	chr8:8559061-8559805	MCF-7	breast:	n/a	n/a
2	HA-E2F1	chr8:8559093-8559838	Hela-S3	cervix:	n/a	chr8:8559671-8559680 chr8:8559456-8559466
3	CTCF	chr8:8559520-8559670	GM12871	blood:	n/a	n/a
4	TAF1	chr8:8559258-8559754	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr8:8558722-8559837	IMR90	lung:	n/a	n/a
6	MXI1	chr8:8558335-8559836	SK-N-SH	brain:	n/a	n/a
7	MAZ	chr8:8559017-8559628	K562	blood:	n/a	n/a
8	MYC	chr8:8559459-8559659	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:8559016-8559888	GM19193	blood:	n/a	n/a
10	ZBTB7A	chr8:8559014-8559675	K562	blood:	n/a	chr8:8559205-8559214
11	JUND	chr8:8559509-8559742	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr8:8559064-8559639	ECC-1	luminal epithelium:	n/a	n/a
13	PAX5	chr8:8559095-8559762	GM12892	blood:	n/a	n/a
14	UBTF	chr8:8559064-8559781	K562	blood:	n/a	n/a
15	POLR2A	chr8:8559149-8559775	MCF10A-Er-Src	breast:	n/a	n/a
16	CCNT2	chr8:8559110-8559705	K562	blood:	n/a	chr8:8559404-8559413
17	UBTF	chr8:8559128-8559645	K562	blood:	n/a	n/a
18	RCOR1	chr8:8558986-8559644	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:8558700-8559705	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr8:8559042-8559625	Hela-S3	cervix:	n/a	n/a
21	E2F6	chr8:8559021-8560636	H1-hESC	embryonic stem cell:	n/a	chr8:8559350-8559361 chr8:8559671-8559680 chr8:8559456-8559466
22	IRF1	chr8:8559047-8559657	K562	blood:	n/a	chr8:8559403-8559417 chr8:8559646-8559656 chr8:8559156-8559170
23	CHD2	chr8:8559358-8559619	GM12878	blood:	n/a	chr8:8559516-8559526 chr8:8559405-8559415
24	POLR2A	chr8:8559128-8559667	ECC-1	luminal epithelium:	n/a	n/a
25	IRF1	chr8:8559073-8559631	K562	blood:	n/a	chr8:8559403-8559417 chr8:8559156-8559170
26	POLR2A	chr8:8559185-8559618	HUVEC	blood vessel:	n/a	n/a
27	ZC3H11A	chr8:8558975-8559644	K562	blood:	n/a	n/a
28	TBP	chr8:8559050-8560092	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr8:8558769-8559769	A549	lung:	n/a	n/a
30	MAX	chr8:8558989-8560736	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr8:8559165-8559649	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr8:8559015-8559671	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr8:8558954-8559645	Raji	blood:	n/a	n/a
34	TAF7	chr8:8559067-8559769	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr8:8559188-8559947	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr8:8558985-8559676	A549	lung:	n/a	chr8:8559350-8559361 chr8:8559456-8559466
37	MAX	chr8:8559057-8559657	MCF-7	breast:	n/a	n/a
38	GABPA	chr8:8559289-8560048	H1-hESC	embryonic stem cell:	n/a	chr8:8559899-8559908
39	ZEB1	chr8:8559186-8560026	GM12878	blood:	n/a	chr8:8559505-8559512
40	CREB1	chr8:8559023-8559733	A549	lung:	n/a	n/a
41	E2F6	chr8:8559111-8559644	K562	blood:	n/a	chr8:8559350-8559361 chr8:8559456-8559466
42	HA-E2F1	chr8:8558998-8559894	MCF-7	breast:	n/a	chr8:8559671-8559680 chr8:8559456-8559466
43	E2F6	chr8:8559220-8559648	K562	blood:	n/a	chr8:8559350-8559361 chr8:8559456-8559466
44	GABPA	chr8:8559048-8560221	H1-hESC	embryonic stem cell:	n/a	chr8:8559899-8559908
45	MAX	chr8:8559022-8559699	HepG2	liver:	n/a	n/a
46	POLR2A	chr8:8558990-8559706	HCT-116	colon:	n/a	n/a
47	CHD2	chr8:8559059-8559935	H1-hESC	embryonic stem cell:	n/a	chr8:8559516-8559526 chr8:8559405-8559415
48	MAX	chr8:8558931-8559708	HepG2	liver:	n/a	n/a
49	RCOR1	chr8:8558914-8559615	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr8:8559041-8559656	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56285724..56286656-chr8:8559373..8559873,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000176305	TF binding region
ENSG00000069869	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
2	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
8	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1016933	chr8:8432279-8624770	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv1033340	chr8:8522963-8565946	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv539458	chr8:8522963-8565946	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1028237	chr8:8532992-8588470	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3425765	chr8:8559367-8561915	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8558400-8559800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr8:8558400-8559800	Active TSS	Rectal Smooth Muscle	rectum
3	chr8:8558400-8559800	Active TSS	GM12878-XiMat	blood
4	chr8:8558400-8560000	Active TSS	Fetal Lung	lung
5	chr8:8558400-8560000	Active TSS	Hela-S3	cervix
6	chr8:8558400-8560200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:8558400-8560200	Active TSS	A549	lung
8	chr8:8558400-8560200	Active TSS	NHLF	lung
9	chr8:8558400-8560600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:8558400-8562800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:8558600-8559800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr8:8558600-8559800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:8558600-8559800	Active TSS	Duodenum Mucosa	Duodenum
14	chr8:8558600-8559800	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr8:8558600-8559800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
16	chr8:8558600-8559800	Active TSS	HepG2	liver
17	chr8:8558600-8559800	Active TSS	K562	blood
18	chr8:8558600-8560000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:8558600-8560000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:8558600-8560000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:8558600-8560000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:8558600-8560000	Active TSS	Brain Angular Gyrus	brain
23	chr8:8558600-8560000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr8:8558600-8560000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chr8:8558600-8560000	Active TSS	Psoas Muscle	Psoas
26	chr8:8558600-8560000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr8:8558600-8560000	Bivalent/Poised TSS	NH-A	brain
28	chr8:8558600-8560000	Active TSS	NHDF-Ad	bronchial
29	chr8:8558600-8560200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr8:8558600-8560200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:8558600-8560200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr8:8558600-8560200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:8558600-8560200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:8558600-8560200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
35	chr8:8558600-8560200	Active TSS	Aorta	Aorta
36	chr8:8558600-8560200	Active TSS	Brain Substantia Nigra	brain
37	chr8:8558600-8560200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr8:8558600-8560200	Active TSS	Ovary	ovary
39	chr8:8558600-8560400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr8:8558600-8560600	Active TSS	Brain Anterior Caudate	brain
41	chr8:8558600-8560800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:8558800-8559800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:8558800-8559800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr8:8558800-8559800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:8558800-8559800	Active TSS	Pancreas	Pancrea
46	chr8:8558800-8559800	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr8:8558800-8559800	Bivalent/Poised TSS	HSMMtube	muscle
48	chr8:8558800-8560000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:8558800-8560000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:8558800-8560000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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