Variant report

Variant	rs2272013
Chromosome Location	chr8:63161612-63161613
allele	C/G
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	ZNF263	chr8:63161203-63162113	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr8:63159936-63162628	H1-neurons	neurons:	n/a	n/a
3	TAF1	chr8:63161591-63162594	H1-neurons	neurons:	n/a	n/a
4	TAF1	chr8:63161368-63161968	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr8:63161285-63162019	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr8:63161467-63161643	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr8:63161513-63162217	H1-hESC	embryonic stem cell:	n/a	chr8:63161992-63162004 chr8:63161993-63162000 chr8:63161993-63162000 chr8:63161993-63162000 chr8:63161992-63162001
8	POLR2A	chr8:63161507-63161913	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr8:63161356-63162407	A549	lung:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
10	MAX	chr8:63161484-63162506	H1-hESC	embryonic stem cell:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
11	MAX	chr8:63161389-63162461	H1-hESC	embryonic stem cell:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
12	TCF7L2	chr8:63160996-63162655	HCT-116	colon:	n/a	n/a
13	POLR2A	chr8:63161527-63161949	A549	lung:	n/a	n/a
14	MAX	chr8:63161557-63162350	HCT-116	colon:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
15	POLR2A	chr8:63159968-63162589	H1-neurons	neurons:	n/a	n/a
16	MAX	chr8:63161571-63162240	HCT-116	colon:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
17	SIN3AK20	chr8:63161540-63161875	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr8:63161515-63161716	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr8:63161361-63162154	H1-hESC	embryonic stem cell:	n/a	chr8:63161968-63161982
20	POLR2A	chr8:63161496-63162012	A549	lung:	n/a	n/a
21	FOXP2	chr8:63161499-63161943	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr8:63161562-63161751	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr8:63161594-63162205	A549	lung:	n/a	chr8:63161799-63161811
24	E2F6	chr8:63161419-63162488	H1-hESC	embryonic stem cell:	n/a	chr8:63161992-63162004 chr8:63161993-63162000 chr8:63161993-63162000 chr8:63161993-63162000 chr8:63161992-63162001
25	POLR2A	chr8:63161584-63161947	MCF-7	breast:	n/a	n/a
26	TBP	chr8:63161455-63162412	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr8:63161459-63161664	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr8:63161565-63162028	MCF-7	breast:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
29	REST	chr8:63158767-63163709	H1-neurons	neurons:	n/a	chr8:63161625-63161643 chr8:63161765-63161775 chr8:63161624-63161644
30	SIN3AK20	chr8:63161484-63161892	PANC-1	pancreas:	n/a	n/a
31	CTCF	chr8:63161606-63161671	MCF-7	breast:	n/a	n/a
32	ZNF143	chr8:63160654-63161930	H1-hESC	embryonic stem cell:	n/a	chr8:63161257-63161275 chr8:63161800-63161810 chr8:63160859-63160869 chr8:63160773-63160783 chr8:63160801-63160811
33	CREB1	chr8:63161387-63161992	A549	lung:	n/a	n/a
34	POLR2A	chr8:63161555-63162038	A549	lung:	n/a	n/a
35	SIN3A	chr8:63160257-63162590	H1-hESC	embryonic stem cell:	n/a	chr8:63160795-63160808 chr8:63160767-63160780 chr8:63161765-63161774 chr8:63161710-63161723 chr8:63160802-63160811
36	TAF1	chr8:63161601-63162107	A549	lung:	n/a	n/a
37	MAX	chr8:63161461-63162206	ECC-1	luminal epithelium:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
38	MAX	chr8:63160374-63162597	A549	lung:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
39	POLR2A	chr8:63161556-63161963	A549	lung:	n/a	n/a
40	POLR2A	chr8:63161447-63162019	A549	lung:	n/a	n/a
41	E2F6	chr8:63161386-63162419	A549	lung:	n/a	chr8:63161992-63162004 chr8:63161993-63162000 chr8:63161993-63162000 chr8:63161993-63162000 chr8:63161992-63162001
42	GABPA	chr8:63161560-63161900	H1-hESC	embryonic stem cell:	n/a	chr8:63161801-63161810
43	GABPA	chr8:63161423-63161764	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTBP2	chr8:63160517-63162469	H1-hESC	embryonic stem cell:	n/a	n/a
45	TCF12	chr8:63161409-63162527	A549	lung:	n/a	n/a
46	YY1	chr8:63161593-63161883	A549	lung:	n/a	chr8:63161701-63161712
47	MAX	chr8:63161407-63162233	MCF-7	breast:	n/a	chr8:63161954-63161961 chr8:63161952-63161961

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:63161609-63161659	MCF-7	breast:	n/a
2	chr8:63161579-63161629	IMR90	lung:	fetal
3	chr8:63161579-63161629	T-47D	breast:	n/a
4	chr8:63161609-63161659	Caco-2	colon:	n/a
5	chr8:63161609-63161659	ovcar-3	ovarian:	n/a
6	chr8:63161589-63161639	HRPEpiC	eye:	n/a
7	chr8:63161609-63161659	MCF10A-Er-Src	breast:	n/a
8	chr8:63161609-63161659	SK-N-MC	brain:	n/a
9	chr8:63161589-63161639	Hela-S3	cervix:	n/a
10	chr8:63161579-63161629	HEEpiC	esophagus:	n/a
11	chr8:63161609-63161659	NB4	blood:	n/a
12	chr8:63161589-63161639	HIPEpiC	eye:	n/a
13	chr8:63161589-63161639	HepG2	liver:	n/a
14	chr8:63161579-63161629	HNPCEpiC	eye:	n/a
15	chr8:63161579-63161629	HMEC	breast:	n/a
16	chr8:63161589-63161639	Hepatocyte	liver:	n/a
17	chr8:63161609-63161659	LNCaP	prostate:	n/a
18	chr8:63161609-63161659	Jurkat	blood:	n/a
19	chr8:63161609-63161659	HUVEC	blood vessel:	n/a
20	chr8:63161609-63161659	PFSK-1	brain:	n/a
21	chr8:63161589-63161639	SAEC	small airway:	n/a
22	chr8:63161609-63161659	NHDF-neo	bronchial:	n/a
23	chr8:63161609-63161659	HIPEpiC	eye:	n/a
24	chr8:63161589-63161639	HNPCEpiC	eye:	n/a
25	chr8:63161589-63161639	Jurkat	blood:	n/a
26	chr8:63161579-63161629	ECC-1	luminal epithelium:	n/a
27	chr8:63161589-63161639	ovcar-3	ovarian:	n/a
28	chr8:63161609-63161659	Hepatocyte	liver:	n/a
29	chr8:63161579-63161629	ovcar-3	ovarian:	n/a
30	chr8:63161609-63161659	AG10803	skin:	n/a
31	chr8:63161589-63161639	RPTEC	kidney:	n/a
32	chr8:63161579-63161629	AG04450	lung:	fetal
33	chr8:63161589-63161639	AG04449	skin:	fetal
34	chr8:63161589-63161639	LNCaP	prostate:	n/a
35	chr8:63161579-63161629	BJ	skin:	n/a
36	chr8:63161589-63161639	HRCEpiC	kidney:	n/a
37	chr8:63161589-63161639	NHBE	bronchial:	n/a
38	chr8:63161579-63161629	HEK293	kidney:	embryo
39	chr8:63161589-63161639	NB4	blood:	n/a
40	chr8:63161579-63161629	AG09319	gingival:	n/a
41	chr8:63161589-63161639	MCF10A-Er-Src	breast:	n/a
42	chr8:63161589-63161639	BE2_C	brain:	n/a
43	chr8:63161609-63161659	GM19239	blood:	n/a
44	chr8:63161579-63161629	BE2_C	brain:	n/a
45	chr8:63161609-63161659	SAEC	small airway:	n/a
46	chr8:63161589-63161639	SK-N-SH	brain:	n/a
47	chr8:63161589-63161639	AG09309	skin:	n/a
48	chr8:63161589-63161639	AoSMC	blood vessel:	n/a
49	chr8:63161579-63161629	Caco-2	colon:	n/a
50	chr8:63161609-63161659	HCPEpiC	choroid plexus:	n/a

Variant related genes	Relation type
NKAIN3	TF binding region
NKAIN3	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016883	chr8:63110741-63171354	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1019143	chr8:63142202-63390820	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2757277	chr8:63156123-63260182	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2759621	chr8:63156123-63260182	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3339374	chr8:63160423-63162971	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63159200-63163800	Active TSS	Fetal Brain Female	brain
2	chr8:63159600-63162800	Active TSS	Brain Anterior Caudate	brain
3	chr8:63159800-63163000	Active TSS	Fetal Brain Male	brain
4	chr8:63160000-63162000	Active TSS	Ovary	ovary
5	chr8:63160000-63162000	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr8:63160000-63162200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:63160000-63162400	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr8:63160000-63162400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:63160000-63162400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
10	chr8:63160200-63161800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr8:63160200-63161800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:63160200-63161800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr8:63160200-63162000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:63160200-63162000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:63160200-63162000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr8:63160200-63162000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
17	chr8:63160200-63162200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:63160200-63162200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:63160200-63162200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:63160200-63162200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:63160200-63162200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
22	chr8:63160200-63162400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:63160200-63162400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:63160200-63162400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:63160200-63162400	Active TSS	Brain Angular Gyrus	brain
26	chr8:63160200-63162400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
27	chr8:63160200-63162400	Active TSS	Rectal Smooth Muscle	rectum
28	chr8:63160200-63162800	Active TSS	Fetal Kidney	kidney
29	chr8:63160400-63161800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:63160400-63161800	Active TSS	Fetal Lung	lung
31	chr8:63160400-63162000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr8:63160400-63162000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:63160400-63162000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:63160400-63162000	Active TSS	Brain Germinal Matrix	brain
35	chr8:63160400-63162000	Bivalent/Poised TSS	Fetal Stomach	stomach
36	chr8:63160400-63162000	Bivalent/Poised TSS	Stomach Mucosa	stomach
37	chr8:63160400-63162000	Active TSS	HSMMtube	muscle
38	chr8:63160400-63162000	Active TSS	NH-A	brain
39	chr8:63160400-63162000	Active TSS	NHDF-Ad	bronchial
40	chr8:63160400-63162200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:63160400-63162200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:63160400-63162200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr8:63160400-63162200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr8:63160400-63162200	Bivalent/Poised TSS	Colonic Mucosa	Colon
45	chr8:63160400-63162200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
46	chr8:63160400-63162200	Active TSS	Right Atrium	heart
47	chr8:63160400-63162200	Active TSS	A549	lung
48	chr8:63160400-63162400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr8:63160400-63162600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr8:63160400-63162600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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