Variant report

Variant	rs17787930
Chromosome Location	chr11:46958299-46958300
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	chr11:46957953-46958481	GM12878	blood:	n/a	n/a
2	MXI1	chr11:46958037-46958452	Hela-S3	cervix:	n/a	chr11:46958273-46958288 chr11:46958275-46958290
3	TBL1XR1	chr11:46958089-46958396	K562	blood:	n/a	n/a
4	EP300	chr11:46958090-46958387	SK-N-SH_RA	brain:	n/a	n/a
5	TCF3	chr11:46958083-46958408	GM12878	blood:	n/a	n/a
6	TAF1	chr11:46958024-46958464	SK-N-SH	brain:	n/a	n/a
7	SIN3AK20	chr11:46958025-46958562	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:46958111-46958605	K562	blood:	n/a	n/a
9	E2F6	chr11:46957902-46958563	A549	lung:	n/a	chr11:46958467-46958476 chr11:46958473-46958482
10	STAT3	chr11:46958144-46958333	MCF10A-Er-Src	breast:	n/a	n/a
11	BATF	chr11:46958052-46958363	GM12878	blood:	n/a	n/a
12	CEBPD	chr11:46958081-46958457	HepG2	liver:	n/a	n/a
13	HEY1	chr11:46958028-46958363	K562	blood:	n/a	n/a
14	YY1	chr11:46957998-46958496	SK-N-SH	brain:	n/a	chr11:46958470-46958479 chr11:46958473-46958482
15	PAX5	chr11:46958079-46958424	GM12878	blood:	n/a	n/a
16	POU2F2	chr11:46957962-46958463	GM12878	blood:	n/a	n/a
17	RFX5	chr11:46958037-46958463	GM12878	blood:	n/a	chr11:46958274-46958289 chr11:46958279-46958288 chr11:46958274-46958289 chr11:46958274-46958289 chr11:46958273-46958290 chr11:46958277-46958291
18	POLR2A	chr11:46958128-46958415	A549	lung:	n/a	n/a
19	YY1	chr11:46958043-46958395	K562	blood:	n/a	n/a
20	RAD21	chr11:46958039-46958381	HepG2	liver:	n/a	n/a
21	USF1	chr11:46958096-46958419	A549	lung:	n/a	n/a
22	TAF1	chr11:46958056-46958331	GM12891	blood:	n/a	n/a
23	EGR1	chr11:46958092-46958589	K562	blood:	n/a	chr11:46958468-46958482 chr11:46958468-46958481 chr11:46958469-46958480 chr11:46958464-46958486 chr11:46958468-46958481 chr11:46958468-46958481 chr11:46958467-46958482 chr11:46958467-46958477 chr11:46958471-46958480 chr11:46958468-46958481 chr11:46958471-46958481 chr11:46958462-46958475
24	SIX5	chr11:46957996-46958389	A549	lung:	n/a	n/a
25	POLR2A	chr11:46958114-46958592	MCF-7	breast:	n/a	n/a
26	USF2	chr11:46957922-46958330	Hela-S3	cervix:	n/a	n/a
27	FOS	chr11:46958110-46958340	MCF10A-Er-Src	breast:	n/a	n/a
28	RAD21	chr11:46958139-46958300	K562	blood:	n/a	n/a
29	ELF1	chr11:46957964-46958508	HepG2	liver:	n/a	n/a
30	TAF1	chr11:46957959-46958550	ECC-1	luminal epithelium:	n/a	n/a
31	USF1	chr11:46958103-46958444	SK-N-SH	brain:	n/a	n/a
32	YY1	chr11:46958055-46958393	GM12891	blood:	n/a	n/a
33	NFIC	chr11:46957977-46958393	HepG2	liver:	n/a	n/a
34	NFIC	chr11:46957923-46958390	HepG2	liver:	n/a	n/a
35	GABPA	chr11:46957998-46958444	GM12878	blood:	n/a	n/a
36	GABPA	chr11:46957768-46958886	MCF-7	breast:	n/a	chr11:46958473-46958482
37	SIX5	chr11:46958075-46958355	GM12878	blood:	n/a	n/a
38	YY1	chr11:46958025-46958436	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr11:46958117-46958418	MCF-7	breast:	n/a	chr11:46958279-46958288
40	POLR2A	chr11:46958037-46958552	ECC-1	luminal epithelium:	n/a	n/a
41	HDAC2	chr11:46958019-46958466	HepG2	liver:	n/a	n/a
42	KAP1	chr11:46957935-46958413	HEK293	kidney:	n/a	n/a
43	HCFC1	chr11:46957542-46959097	Hela-S3	cervix:	n/a	n/a
44	FOXP2	chr11:46958020-46958403	SK-N-MC	brain:	n/a	n/a
45	SMC3	chr11:46958057-46958347	HepG2	liver:	n/a	n/a
46	MAX	chr11:46958034-46958442	NB4	blood:	n/a	chr11:46958279-46958288
47	CREB1	chr11:46958097-46958446	A549	lung:	n/a	n/a
48	POLR2A	chr11:46957870-46958718	U87	brain:	n/a	n/a
49	ZKSCAN1	chr11:46958031-46958403	Hela-S3	cervix:	n/a	n/a
50	HEY1	chr11:46958031-46958571	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46958255-46958305	Jurkat	blood:	n/a
2	chr11:46958255-46958305	Hepatocyte	liver:	n/a
3	chr11:46958255-46958305	U87	brain:	n/a
4	chr11:46958255-46958305	Caco-2	colon:	n/a
5	chr11:46958255-46958305	AoSMC	blood vessel:	n/a
6	chr11:46958255-46958305	IMR90	lung:	fetal
7	chr11:46958255-46958305	NT2-D1	testis:	n/a
8	chr11:46958255-46958305	HUVEC	blood vessel:	n/a
9	chr11:46958255-46958305	SAEC	small airway:	n/a
10	chr11:46958255-46958305	H1-hESC	embryonic stem cell:	embryo
11	chr11:46958255-46958305	SK-N-SH_RA	brain:	n/a
12	chr11:46958255-46958305	MCF-7	breast:	n/a
13	chr11:46958255-46958305	CMK	blood:	n/a
14	chr11:46958255-46958305	HAEpiC	amniotic membrane:	n/a
15	chr11:46958255-46958305	HIPEpiC	eye:	n/a
16	chr11:46958255-46958305	GM19239	blood:	n/a
17	chr11:46958255-46958305	LNCaP	prostate:	n/a
18	chr11:46958255-46958305	GM12878	blood:	n/a
19	chr11:46958255-46958305	HPAEpiC	pulmonary alveolar:	n/a
20	chr11:46958255-46958305	A549	lung:	n/a
21	chr11:46958255-46958305	ovcar-3	ovarian:	n/a
22	chr11:46958255-46958305	NHBE	bronchial:	n/a
23	chr11:46958255-46958305	HRCEpiC	kidney:	n/a
24	chr11:46958255-46958305	PANC-1	pancreas:	n/a
25	chr11:46958255-46958305	HNPCEpiC	eye:	n/a
26	chr11:46958255-46958305	PrEC	prostate:	n/a
27	chr11:46958255-46958305	AG10803	skin:	n/a
28	chr11:46958255-46958305	HMEC	breast:	n/a
29	chr11:46958255-46958305	SK-N-MC	brain:	n/a
30	chr11:46958255-46958305	SK-N-SH	brain:	n/a
31	chr11:46958255-46958305	AG04449	skin:	fetal
32	chr11:46958255-46958305	HCM	heart:	n/a
33	chr11:46958255-46958305	HCPEpiC	choroid plexus:	n/a
34	chr11:46958255-46958305	GM06990	blood:	n/a
35	chr11:46958255-46958305	NB4	blood:	n/a
36	chr11:46958255-46958305	RPTEC	kidney:	n/a
37	chr11:46958255-46958305	GM12891	blood:	n/a
38	chr11:46958255-46958305	AG09319	gingival:	n/a
39	chr11:46958255-46958305	SKMC	muscle:	n/a
40	chr11:46958255-46958305	MCF10A-Er-Src	breast:	n/a
41	chr11:46958255-46958305	HEEpiC	esophagus:	n/a
42	chr11:46958255-46958305	PFSK-1	brain:	n/a
43	chr11:46958255-46958305	AG04450	lung:	fetal
44	chr11:46958255-46958305	AG09309	skin:	n/a
45	chr11:46958255-46958305	HRPEpiC	eye:	n/a
46	chr11:46958255-46958305	HRE	kidney:	n/a
47	chr11:46958255-46958305	Hela-S3	cervix:	n/a
48	chr11:46958255-46958305	GM12892	blood:	n/a
49	chr11:46958255-46958305	BJ	skin:	n/a
50	chr11:46958255-46958305	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46958122..46959949-chr11:47174429..47176046,2	MCF-7	breast:

Variant related genes	Relation type
C11orf49	TF binding region
C11orf49	CpG island
ENSG00000149179	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10466476	0.87[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10466477	0.88[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838634	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038985	1.00[ASN][1000 genomes]
rs11038987	0.88[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039012	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039015	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607429	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822959	0.88[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824327	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825434	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273360	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277006	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281784	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287376	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294921	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352307	0.80[AMR][1000 genomes]
rs16938534	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867206	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136433	1.00[ASN][1000 genomes]
rs3136434	1.00[ASN][1000 genomes]
rs3136436	1.00[ASN][1000 genomes]
rs3136439	1.00[ASN][1000 genomes]
rs3136443	1.00[ASN][1000 genomes]
rs3136446	1.00[ASN][1000 genomes]
rs3136448	1.00[ASN][1000 genomes]
rs3136467	1.00[ASN][1000 genomes]
rs3136468	1.00[ASN][1000 genomes]
rs3136469	1.00[ASN][1000 genomes]
rs3136472	1.00[ASN][1000 genomes]
rs3136480	1.00[ASN][1000 genomes]
rs3136481	1.00[ASN][1000 genomes]
rs3136482	1.00[ASN][1000 genomes]
rs3136489	1.00[ASN][1000 genomes]
rs3136500	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs3136504	1.00[ASN][1000 genomes]
rs3136521	1.00[ASN][1000 genomes]
rs4128315	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4463814	1.00[ASN][1000 genomes]
rs4500447	0.82[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647709	1.00[ASN][1000 genomes]
rs56311746	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56331152	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57368576	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57485117	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5898	1.00[ASN][1000 genomes]
rs59197251	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60940896	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61382645	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884297	1.00[ASN][1000 genomes]
rs61884303	1.00[ASN][1000 genomes]
rs61884304	1.00[ASN][1000 genomes]
rs61884305	1.00[ASN][1000 genomes]
rs61884306	1.00[ASN][1000 genomes]
rs61884307	1.00[ASN][1000 genomes]
rs61896127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61897302	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897303	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897304	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897308	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61898529	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61898531	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61899280	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61899282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61899283	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61899292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485700	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485706	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102325	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102474	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105052	0.88[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105172	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105217	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106323	0.88[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107703	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7108147	0.88[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111760	0.88[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111811	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112060	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112518	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115038	1.00[CEU][hapmap]
rs7115986	0.88[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118097	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120113	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123729	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128102	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129622	0.88[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73456126	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928445	0.88[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938960	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945548	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947517	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9667108	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9735937	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46957600-46958800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr11:46957600-46959200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr11:46957800-46958400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:46957800-46958600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:46957800-46958600	Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:46957800-46958600	Active TSS	Brain Germinal Matrix	brain
7	chr11:46957800-46958600	Active TSS	Colon Smooth Muscle	Colon
8	chr11:46957800-46958600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:46957800-46958600	Active TSS	Fetal Brain Female	brain
10	chr11:46957800-46958600	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:46957800-46958600	Active TSS	HSMMtube	muscle
12	chr11:46957800-46958600	Active TSS	HUVEC	blood vessel
13	chr11:46957800-46958600	Active TSS	NH-A	brain
14	chr11:46957800-46958800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:46957800-46958800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr11:46957800-46958800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:46957800-46958800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:46957800-46958800	Flanking Active TSS	Liver	Liver
19	chr11:46957800-46958800	Active TSS	Brain Angular Gyrus	brain
20	chr11:46957800-46958800	Active TSS	Brain Cingulate Gyrus	brain
21	chr11:46957800-46958800	Active TSS	Brain Hippocampus Middle	brain
22	chr11:46957800-46958800	Active TSS	Colonic Mucosa	Colon
23	chr11:46957800-46958800	Active TSS	Fetal Intestine Large	intestine
24	chr11:46957800-46958800	Active TSS	Fetal Kidney	kidney
25	chr11:46957800-46958800	Active TSS	Fetal Lung	lung
26	chr11:46957800-46958800	Active TSS	Right Atrium	heart
27	chr11:46957800-46958800	Active TSS	GM12878-XiMat	blood
28	chr11:46957800-46959000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr11:46957800-46959000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:46957800-46959000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:46957800-46959000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:46957800-46959000	Active TSS	HMEC	breast
33	chr11:46957800-46959200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:46957800-46959200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:46957800-46959200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:46957800-46959200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:46957800-46959200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr11:46957800-46959200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr11:46957800-46959200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:46957800-46959200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:46957800-46959200	Active TSS	Stomach Smooth Muscle	stomach
42	chr11:46957800-46959200	Active TSS	HSMM	muscle
43	chr11:46957800-46959200	Active TSS	NHLF	lung
44	chr11:46958000-46958600	Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr11:46958000-46958600	Active TSS	Primary hematopoietic stem cells	blood
46	chr11:46958000-46958600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:46958000-46958600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:46958000-46958600	Active TSS	Brain Anterior Caudate	brain
49	chr11:46958000-46958600	Active TSS	Brain Substantia Nigra	brain
50	chr11:46958000-46958600	Active TSS	Duodenum Mucosa	Duodenum

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