Variant report

Variant	rs2272014
Chromosome Location	chr8:63161462-63161463
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	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	chr8:63161368-63161968	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr8:63160585-63161600	ECC-1	luminal epithelium:	n/a	chr8:63160811-63160819 chr8:63160653-63160660
5	POLR2A	chr8:63161285-63162019	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr8:63161356-63162407	A549	lung:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
7	MAX	chr8:63161389-63162461	H1-hESC	embryonic stem cell:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
8	TCF7L2	chr8:63160996-63162655	HCT-116	colon:	n/a	n/a
9	POLR2A	chr8:63159968-63162589	H1-neurons	neurons:	n/a	n/a
10	RAD21	chr8:63161361-63162154	H1-hESC	embryonic stem cell:	n/a	chr8:63161968-63161982
11	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
12	TBP	chr8:63161455-63162412	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr8:63161459-63161664	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr8:63158767-63163709	H1-neurons	neurons:	n/a	chr8:63161625-63161643 chr8:63161765-63161775 chr8:63161624-63161644
15	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
16	CREB1	chr8:63161387-63161992	A549	lung:	n/a	n/a
17	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
18	MAX	chr8:63161461-63162206	ECC-1	luminal epithelium:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
19	MAX	chr8:63160374-63162597	A549	lung:	n/a	chr8:63161954-63161961 chr8:63161952-63161961
20	POLR2A	chr8:63161447-63162019	A549	lung:	n/a	n/a
21	E2F6	chr8:63161386-63162419	A549	lung:	n/a	chr8:63161992-63162004 chr8:63161993-63162000 chr8:63161993-63162000 chr8:63161993-63162000 chr8:63161992-63162001
22	GABPA	chr8:63161423-63161764	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTBP2	chr8:63160517-63162469	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF12	chr8:63161409-63162527	A549	lung:	n/a	n/a
25	MAX	chr8:63161407-63162233	MCF-7	breast:	n/a	chr8:63161954-63161961 chr8:63161952-63161961

Variant related genes	Relation type
NKAIN3	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10090048	0.99[EUR][1000 genomes]
rs10090129	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10094502	0.99[EUR][1000 genomes]
rs10095168	0.91[EUR][1000 genomes]
rs10099748	0.91[EUR][1000 genomes]
rs10101551	0.97[EUR][1000 genomes]
rs10448028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1154592	0.92[EUR][1000 genomes]
rs11778470	0.93[EUR][1000 genomes]
rs12548234	0.91[EUR][1000 genomes]
rs12549042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12679323	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12681000	0.81[EUR][1000 genomes]
rs13249875	0.81[EUR][1000 genomes]
rs13250200	0.82[EUR][1000 genomes]
rs13252919	0.91[EUR][1000 genomes]
rs13255752	0.92[EUR][1000 genomes]
rs13261910	0.88[EUR][1000 genomes]
rs13262465	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13264993	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13268451	0.99[EUR][1000 genomes]
rs13271280	0.91[EUR][1000 genomes]
rs13281158	0.90[EUR][1000 genomes]
rs1351702	0.99[EUR][1000 genomes]
rs1384675	0.92[EUR][1000 genomes]
rs1384683	0.99[EUR][1000 genomes]
rs1384684	0.99[EUR][1000 genomes]
rs1483165	0.93[EUR][1000 genomes]
rs1483173	1.00[EUR][1000 genomes]
rs1483177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1552205	0.93[EUR][1000 genomes]
rs2272015	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2351652	0.90[EUR][1000 genomes]
rs2351653	0.90[EUR][1000 genomes]
rs2882742	0.93[EUR][1000 genomes]
rs4262319	0.99[EUR][1000 genomes]
rs4637821	0.91[EUR][1000 genomes]
rs4738948	0.99[EUR][1000 genomes]
rs5020321	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6983788	0.99[EUR][1000 genomes]
rs7017869	0.93[EUR][1000 genomes]
rs7017975	0.93[EUR][1000 genomes]
rs7827326	0.81[EUR][1000 genomes]
rs7834815	0.90[EUR][1000 genomes]
rs900491	0.93[EUR][1000 genomes]
rs900492	0.93[EUR][1000 genomes]
rs9298062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643536	0.93[EUR][1000 genomes]
rs9987255	0.97[EUR][1000 genomes]

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:97 , 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	chr8:63159600-63161600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
3	chr8:63159600-63162800	Active TSS	Brain Anterior Caudate	brain
4	chr8:63159800-63161600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr8:63159800-63163000	Active TSS	Fetal Brain Male	brain
6	chr8:63160000-63161600	Active TSS	Stomach Smooth Muscle	stomach
7	chr8:63160000-63162000	Active TSS	Ovary	ovary
8	chr8:63160000-63162000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr8:63160000-63162200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:63160000-63162400	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr8:63160000-63162400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:63160000-63162400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
13	chr8:63160200-63161600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
14	chr8:63160200-63161800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:63160200-63161800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:63160200-63161800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr8:63160200-63162000	Active TSS	Muscle Satellite Cultured Cells	--
18	chr8:63160200-63162000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:63160200-63162000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr8:63160200-63162000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
21	chr8:63160200-63162200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr8:63160200-63162200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:63160200-63162200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:63160200-63162200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:63160200-63162200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
26	chr8:63160200-63162400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr8:63160200-63162400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:63160200-63162400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:63160200-63162400	Active TSS	Brain Angular Gyrus	brain
30	chr8:63160200-63162400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr8:63160200-63162400	Active TSS	Rectal Smooth Muscle	rectum
32	chr8:63160200-63162800	Active TSS	Fetal Kidney	kidney
33	chr8:63160400-63161600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
34	chr8:63160400-63161800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:63160400-63161800	Active TSS	Fetal Lung	lung
36	chr8:63160400-63162000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr8:63160400-63162000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:63160400-63162000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:63160400-63162000	Active TSS	Brain Germinal Matrix	brain
40	chr8:63160400-63162000	Bivalent/Poised TSS	Fetal Stomach	stomach
41	chr8:63160400-63162000	Bivalent/Poised TSS	Stomach Mucosa	stomach
42	chr8:63160400-63162000	Active TSS	HSMMtube	muscle
43	chr8:63160400-63162000	Active TSS	NH-A	brain
44	chr8:63160400-63162000	Active TSS	NHDF-Ad	bronchial
45	chr8:63160400-63162200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:63160400-63162200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:63160400-63162200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr8:63160400-63162200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr8:63160400-63162200	Bivalent/Poised TSS	Colonic Mucosa	Colon
50	chr8:63160400-63162200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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