Variant report

Variant	rs6700983
Chromosome Location	chr1:84326438-84326439
allele	A/C
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	CTCF	chr1:84326128-84326515	K562	blood:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
2	E2F6	chr1:84326206-84327035	A549	lung:	n/a	chr1:84326724-84326735 chr1:84326797-84326806
3	ZBTB7A	chr1:84326038-84326864	ECC-1	luminal epithelium:	n/a	chr1:84326285-84326294
4	CTCF	chr1:84326094-84326532	H1-hESC	embryonic stem cell:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
5	ZEB1	chr1:84326180-84326472	GM12878	blood:	n/a	n/a
6	BCLAF1	chr1:84326138-84326459	GM12878	blood:	n/a	chr1:84326388-84326401
7	CTCF	chr1:84326158-84326438	GM13977	blood:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
8	MAX	chr1:84326092-84327035	H1-hESC	embryonic stem cell:	n/a	chr1:84326764-84326771 chr1:84326765-84326774 chr1:84326798-84326808 chr1:84326763-84326772 chr1:84326763-84326773
9	E2F6	chr1:84326092-84327152	H1-hESC	embryonic stem cell:	n/a	chr1:84326724-84326735 chr1:84326797-84326806
10	CTCF	chr1:84325921-84326724	A549	lung:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
11	SIN3A	chr1:84326084-84326881	H1-hESC	embryonic stem cell:	n/a	chr1:84326813-84326826
12	MAX	chr1:84326089-84327025	MCF-7	breast:	n/a	chr1:84326764-84326771 chr1:84326765-84326774 chr1:84326798-84326808 chr1:84326763-84326772 chr1:84326763-84326773
13	CTCF	chr1:84326104-84326501	K562	blood:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
14	HMGN3	chr1:84326379-84326874	K562	blood:	n/a	n/a
15	RAD21	chr1:84326024-84326494	H1-hESC	embryonic stem cell:	n/a	chr1:84326282-84326301 chr1:84326387-84326401
16	ZNF143	chr1:84326118-84326466	GM12878	blood:	n/a	chr1:84326352-84326370
17	CTCF	chr1:84326146-84326449	MCF-7	breast:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
18	CTCF	chr1:84326087-84326482	H1-hESC	embryonic stem cell:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
19	GABPA	chr1:84326132-84326449	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAZ	chr1:84326158-84326439	K562	blood:	n/a	n/a
21	POLR2A	chr1:84326008-84326948	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr1:84326400-84326888	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr1:84326097-84327122	ECC-1	luminal epithelium:	n/a	chr1:84326764-84326771 chr1:84326765-84326774 chr1:84326798-84326808 chr1:84326763-84326772 chr1:84326763-84326773
24	MAX	chr1:84326378-84327034	A549	lung:	n/a	chr1:84326764-84326771 chr1:84326765-84326774 chr1:84326798-84326808 chr1:84326763-84326772 chr1:84326763-84326773
25	E2F6	chr1:84326170-84327059	H1-hESC	embryonic stem cell:	n/a	chr1:84326724-84326735 chr1:84326797-84326806
26	SMC3	chr1:84326114-84326472	K562	blood:	n/a	chr1:84326286-84326300
27	CTCF	chr1:84326127-84326604	K562	blood:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
28	MAX	chr1:84326079-84327112	ECC-1	luminal epithelium:	n/a	chr1:84326764-84326771 chr1:84326765-84326774 chr1:84326798-84326808 chr1:84326763-84326772 chr1:84326763-84326773
29	CTCF	chr1:84326095-84326533	MCF-7	breast:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
30	RAD21	chr1:84326086-84326750	H1-hESC	embryonic stem cell:	n/a	chr1:84326282-84326301 chr1:84326387-84326401
31	TCF12	chr1:84326070-84326891	ECC-1	luminal epithelium:	n/a	n/a
32	RAD21	chr1:84326036-84326492	ECC-1	luminal epithelium:	n/a	chr1:84326282-84326301 chr1:84326387-84326401
33	CTCF	chr1:84326155-84326440	GM12878	blood:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
34	ZNF143	chr1:84326107-84326460	H1-hESC	embryonic stem cell:	n/a	chr1:84326352-84326370
35	MAX	chr1:84326091-84327012	H1-hESC	embryonic stem cell:	n/a	chr1:84326764-84326771 chr1:84326765-84326774 chr1:84326798-84326808 chr1:84326763-84326772 chr1:84326763-84326773
36	CTCF	chr1:84326157-84326440	T-47D	breast:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
37	TCF12	chr1:84326109-84327080	ECC-1	luminal epithelium:	n/a	n/a
38	MAX	chr1:84326026-84327109	A549	lung:	n/a	chr1:84326764-84326771 chr1:84326765-84326774 chr1:84326798-84326808 chr1:84326763-84326772 chr1:84326763-84326773
39	RAD21	chr1:84326101-84326449	HepG2	liver:	n/a	chr1:84326282-84326301 chr1:84326387-84326401
40	CTCF	chr1:84326138-84326440	A549	lung:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
41	SIN3AK20	chr1:84326078-84327081	MCF-7	breast:	n/a	n/a
42	CCNT2	chr1:84326241-84326705	K562	blood:	n/a	n/a
43	CTCF	chr1:84325999-84326574	MCF-7	breast:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
44	TCF12	chr1:84326139-84326451	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr1:84325957-84326564	HCT-116	colon:	n/a	chr1:84326282-84326301 chr1:84326387-84326401
46	POLR2A	chr1:84326133-84327012	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr1:84326394-84326880	MCF-7	breast:	n/a	n/a
48	RAD21	chr1:84326004-84326525	HCT-116	colon:	n/a	chr1:84326282-84326301 chr1:84326387-84326401
49	ZBTB7A	chr1:84326131-84327015	ECC-1	luminal epithelium:	n/a	chr1:84326285-84326294
50	RAD21	chr1:84326045-84326613	MCF-7	breast:	n/a	chr1:84326282-84326301 chr1:84326387-84326401

Variant related genes	Relation type
ENSG00000233008	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10489508	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493742	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493743	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163863	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163864	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116464	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116522	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116857	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117716	1.00[ASN][1000 genomes]
rs12118371	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118428	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119338	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119424	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12119854	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120380	1.00[ASN][1000 genomes]
rs12120801	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120905	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121058	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121629	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123247	1.00[ASN][1000 genomes]
rs12123323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125111	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125251	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126397	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126515	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127526	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127657	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128942	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129276	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131968	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133196	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133949	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135679	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136835	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138857	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139383	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140562	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140964	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141004	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141166	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142059	1.00[ASN][1000 genomes]
rs12142944	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12143951	1.00[ASN][1000 genomes]
rs12144066	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144704	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145472	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408474	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408475	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130437	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130475	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475494	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534879	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925712	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031371	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147394	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181901	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389650	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293003	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293005	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41423448	1.00[ASN][1000 genomes]
rs41525348	1.00[ASN][1000 genomes]
rs4258240	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387198	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437897	1.00[ASN][1000 genomes]
rs45515591	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159052	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58842909	1.00[ASN][1000 genomes]
rs6690381	1.00[ASN][1000 genomes]
rs7519127	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645391	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645396	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645397	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84323400-84327000	Weak transcription	Fetal Heart	heart
2	chr1:84324200-84327000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:84325800-84326800	Active TSS	Brain Cingulate Gyrus	brain
4	chr1:84325800-84327000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:84325800-84327000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:84325800-84327200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:84325800-84327200	Flanking Active TSS	NHEK	skin
8	chr1:84326000-84326600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:84326000-84326600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:84326000-84326600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr1:84326000-84326600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:84326000-84326600	Active TSS	Brain Hippocampus Middle	brain
13	chr1:84326000-84326600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:84326000-84326600	Active TSS	Stomach Smooth Muscle	stomach
15	chr1:84326000-84326600	Active TSS	Thymus	Thymus
16	chr1:84326000-84326800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:84326000-84326800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:84326000-84326800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:84326000-84326800	Active TSS	Brain Angular Gyrus	brain
20	chr1:84326000-84326800	Active TSS	Brain Anterior Caudate	brain
21	chr1:84326000-84326800	Active TSS	Brain Substantia Nigra	brain
22	chr1:84326000-84326800	Active TSS	Pancreas	Pancrea
23	chr1:84326000-84327000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:84326000-84327000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:84326000-84327000	Active TSS	Aorta	Aorta
26	chr1:84326000-84327000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:84326000-84327000	Active TSS	Fetal Kidney	kidney
28	chr1:84326000-84327000	Active TSS	A549	lung
29	chr1:84326000-84327000	Flanking Active TSS	HMEC	breast
30	chr1:84326000-84327000	Active TSS	HUVEC	blood vessel
31	chr1:84326000-84327200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:84326200-84326600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:84326200-84326600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr1:84326200-84326600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:84326200-84326600	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr1:84326200-84326600	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr1:84326200-84326600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:84326200-84326600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:84326200-84326600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr1:84326200-84326600	Bivalent/Poised TSS	Fetal Stomach	stomach
41	chr1:84326200-84326600	Active TSS	Fetal Thymus	thymus
42	chr1:84326200-84326600	Active TSS	Gastric	stomach
43	chr1:84326200-84326600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr1:84326200-84326800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:84326200-84326800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:84326200-84326800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:84326200-84326800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:84326200-84326800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:84326200-84326800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:84326200-84326800	Active TSS	Primary T helper naive cells from peripheral blood	blood

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