Variant report

Variant	rs554076606
Chromosome Location	chr8:8559494-8559495
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	POLR2A	chr8:8559061-8559805	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:8559099-8559557	K562	blood:	n/a	n/a
3	RCOR1	chr8:8559036-8559533	K562	blood:	n/a	n/a
4	MYC	chr8:8559252-8559507	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr8:8558859-8559594	A549	lung:	n/a	n/a
6	CTCF	chr8:8559400-8559550	GM12874	blood:	n/a	n/a
7	HA-E2F1	chr8:8559093-8559838	Hela-S3	cervix:	n/a	chr8:8559671-8559680 chr8:8559456-8559466
8	SP1	chr8:8558872-8559557	H1-hESC	embryonic stem cell:	n/a	chr8:8559405-8559414 chr8:8559403-8559415 chr8:8559404-8559413 chr8:8559158-8559170 chr8:8559403-8559415 chr8:8559404-8559414 chr8:8559404-8559414 chr8:8559405-8559414
9	BHLHE40	chr8:8559193-8559537	GM12878	blood:	n/a	n/a
10	TAF1	chr8:8559258-8559754	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr8:8558722-8559837	IMR90	lung:	n/a	n/a
12	MXI1	chr8:8558335-8559836	SK-N-SH	brain:	n/a	n/a
13	MAX	chr8:8558978-8559514	SK-N-SH	brain:	n/a	n/a
14	MAZ	chr8:8559017-8559628	K562	blood:	n/a	n/a
15	MYC	chr8:8559459-8559659	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr8:8559016-8559888	GM19193	blood:	n/a	n/a
17	ZBTB7A	chr8:8559014-8559675	K562	blood:	n/a	chr8:8559205-8559214
18	JUND	chr8:8559064-8559611	K562	blood:	n/a	n/a
19	MAX	chr8:8559064-8559639	ECC-1	luminal epithelium:	n/a	n/a
20	PAX5	chr8:8559095-8559762	GM12892	blood:	n/a	n/a
21	POLR2A	chr8:8559310-8559584	H1-hESC	embryonic stem cell:	n/a	n/a
22	SMC3	chr8:8559076-8559529	Hela-S3	cervix:	n/a	n/a
23	UBTF	chr8:8559064-8559781	K562	blood:	n/a	n/a
24	POLR2A	chr8:8559149-8559775	MCF10A-Er-Src	breast:	n/a	n/a
25	CCNT2	chr8:8559110-8559705	K562	blood:	n/a	chr8:8559404-8559413
26	MAZ	chr8:8559164-8559550	GM12878	blood:	n/a	n/a
27	UBTF	chr8:8559128-8559645	K562	blood:	n/a	n/a
28	RCOR1	chr8:8558986-8559644	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:8558700-8559705	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr8:8559042-8559625	Hela-S3	cervix:	n/a	n/a
31	E2F6	chr8:8559021-8560636	H1-hESC	embryonic stem cell:	n/a	chr8:8559350-8559361 chr8:8559671-8559680 chr8:8559456-8559466
32	MYC	chr8:8559086-8559600	K562	blood:	n/a	n/a
33	IRF1	chr8:8559047-8559657	K562	blood:	n/a	chr8:8559403-8559417 chr8:8559646-8559656 chr8:8559156-8559170
34	PAX5	chr8:8559047-8559557	GM12878	blood:	n/a	n/a
35	CHD2	chr8:8559358-8559619	GM12878	blood:	n/a	chr8:8559516-8559526 chr8:8559405-8559415
36	POLR2A	chr8:8559128-8559667	ECC-1	luminal epithelium:	n/a	n/a
37	IRF1	chr8:8559073-8559631	K562	blood:	n/a	chr8:8559403-8559417 chr8:8559156-8559170
38	POLR2A	chr8:8559185-8559618	HUVEC	blood vessel:	n/a	n/a
39	ZC3H11A	chr8:8558975-8559644	K562	blood:	n/a	n/a
40	TBP	chr8:8559050-8560092	H1-hESC	embryonic stem cell:	n/a	n/a
41	HNF4A	chr8:8559131-8559538	HepG2	liver:	n/a	chr8:8559414-8559427 chr8:8559413-8559426 chr8:8559413-8559427 chr8:8559413-8559427 chr8:8559412-8559427 chr8:8559414-8559426
42	MAX	chr8:8558769-8559769	A549	lung:	n/a	n/a
43	POLR2A	chr8:8559051-8559576	A549	lung:	n/a	n/a
44	MAX	chr8:8558989-8560736	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr8:8559384-8559522	ProgFib	skin:	n/a	n/a
46	POLR2A	chr8:8559165-8559649	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr8:8559015-8559671	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr8:8558954-8559645	Raji	blood:	n/a	n/a
49	MAX	chr8:8558996-8559525	NB4	blood:	n/a	n/a
50	TAF7	chr8:8559067-8559769	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8559461-8559511	HepG2	liver:	n/a
2	chr8:8559461-8559511	GM12878	blood:	n/a
3	chr8:8559461-8559511	PrEC	prostate:	n/a
4	chr8:8559461-8559511	NH-A	brain:	n/a
5	chr8:8559461-8559511	BJ	skin:	n/a
6	chr8:8559461-8559511	HIPEpiC	eye:	n/a
7	chr8:8559461-8559511	HRE	kidney:	n/a
8	chr8:8559461-8559511	HRCEpiC	kidney:	n/a
9	chr8:8559461-8559511	HCF	heart:	n/a
10	chr8:8559461-8559511	U87	brain:	n/a
11	chr8:8559461-8559511	NHBE	bronchial:	n/a
12	chr8:8559461-8559511	ProgFib	skin:	n/a
13	chr8:8559461-8559511	HPAEpiC	pulmonary alveolar:	n/a
14	chr8:8559461-8559511	NHDF-neo	bronchial:	n/a
15	chr8:8559461-8559511	HCT-116	colon:	n/a
16	chr8:8559461-8559511	GM06990	blood:	n/a
17	chr8:8559461-8559511	SAEC	small airway:	n/a
18	chr8:8559461-8559511	HEK293	kidney:	embryo
19	chr8:8559461-8559511	ovcar-3	ovarian:	n/a
20	chr8:8559461-8559511	RPTEC	kidney:	n/a
21	chr8:8559461-8559511	IMR90	lung:	fetal
22	chr8:8559461-8559511	AG10803	skin:	n/a
23	chr8:8559461-8559511	AG09319	gingival:	n/a
24	chr8:8559461-8559511	GM19239	blood:	n/a
25	chr8:8559461-8559511	BE2_C	brain:	n/a
26	chr8:8559461-8559511	HMEC	breast:	n/a
27	chr8:8559461-8559511	HL-60	blood:	n/a
28	chr8:8559461-8559511	MCF-7	breast:	n/a
29	chr8:8559461-8559511	AG04449	skin:	fetal
30	chr8:8559461-8559511	K562	blood:	n/a
31	chr8:8559461-8559511	HCM	heart:	n/a
32	chr8:8559461-8559511	H1-hESC	embryonic stem cell:	embryo
33	chr8:8559461-8559511	GM12892	blood:	n/a
34	chr8:8559461-8559511	PFSK-1	brain:	n/a
35	chr8:8559461-8559511	NT2-D1	testis:	n/a
36	chr8:8559461-8559511	HRPEpiC	eye:	n/a
37	chr8:8559461-8559511	NB4	blood:	n/a
38	chr8:8559461-8559511	GM12891	blood:	n/a
39	chr8:8559461-8559511	SK-N-SH	brain:	n/a
40	chr8:8559461-8559511	HEEpiC	esophagus:	n/a
41	chr8:8559461-8559511	A549	lung:	n/a
42	chr8:8559461-8559511	HAEpiC	amniotic membrane:	n/a
43	chr8:8559461-8559511	LNCaP	prostate:	n/a
44	chr8:8559461-8559511	HNPCEpiC	eye:	n/a
45	chr8:8559461-8559511	AG04450	lung:	fetal
46	chr8:8559461-8559511	ECC-1	luminal epithelium:	n/a
47	chr8:8559461-8559511	Hela-S3	cervix:	n/a
48	chr8:8559461-8559511	Caco-2	colon:	n/a
49	chr8:8559461-8559511	T-47D	breast:	n/a
50	chr8:8559461-8559511	Hepatocyte	liver:	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
ENSG00000176305	CpG island
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:125 , 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	chr8:8558600-8559600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:8558600-8559600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:8558600-8559600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:8558600-8559600	Active TSS	Brain Hippocampus Middle	brain
15	chr8:8558600-8559600	Active TSS	Colonic Mucosa	Colon
16	chr8:8558600-8559600	Active TSS	Right Atrium	heart
17	chr8:8558600-8559800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:8558600-8559800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:8558600-8559800	Active TSS	Duodenum Mucosa	Duodenum
20	chr8:8558600-8559800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:8558600-8559800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr8:8558600-8559800	Active TSS	HepG2	liver
23	chr8:8558600-8559800	Active TSS	K562	blood
24	chr8:8558600-8560000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:8558600-8560000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:8558600-8560000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:8558600-8560000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr8:8558600-8560000	Active TSS	Brain Angular Gyrus	brain
29	chr8:8558600-8560000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr8:8558600-8560000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr8:8558600-8560000	Active TSS	Psoas Muscle	Psoas
32	chr8:8558600-8560000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:8558600-8560000	Bivalent/Poised TSS	NH-A	brain
34	chr8:8558600-8560000	Active TSS	NHDF-Ad	bronchial
35	chr8:8558600-8560200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr8:8558600-8560200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:8558600-8560200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr8:8558600-8560200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:8558600-8560200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:8558600-8560200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
41	chr8:8558600-8560200	Active TSS	Aorta	Aorta
42	chr8:8558600-8560200	Active TSS	Brain Substantia Nigra	brain
43	chr8:8558600-8560200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr8:8558600-8560200	Active TSS	Ovary	ovary
45	chr8:8558600-8560400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr8:8558600-8560600	Active TSS	Brain Anterior Caudate	brain
47	chr8:8558600-8560800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:8558800-8559600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:8558800-8559600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:8558800-8559600	Active TSS	Left Ventricle	heart

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