Variant report

Variant	rs473587
Chromosome Location	chr11:64794536-64794537
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	SP1	chr11:64794400-64795532	A549	lung:	n/a	chr11:64795271-64795284 chr11:64794964-64794978 chr11:64795274-64795286 chr11:64795275-64795285 chr11:64795276-64795285 chr11:64795275-64795285 chr11:64795274-64795286 chr11:64795276-64795285 chr11:64795271-64795285 chr11:64795275-64795284
2	RCOR1	chr11:64794415-64795227	K562	blood:	n/a	n/a
3	E2F6	chr11:64794517-64795698	H1-hESC	embryonic stem cell:	n/a	chr11:64795275-64795284 chr11:64794927-64794936 chr11:64794925-64794935
4	MAFK	chr11:64794503-64795485	Hela-S3	cervix:	n/a	n/a
5	RUNX3	chr11:64794413-64795543	GM12878	blood:	n/a	n/a
6	RCOR1	chr11:64794338-64795489	Hela-S3	cervix:	n/a	n/a
7	HCFC1	chr11:64794263-64796242	Hela-S3	cervix:	n/a	n/a
8	PML	chr11:64794496-64795680	GM12878	blood:	n/a	n/a
9	IRF3	chr11:64794475-64795373	Hela-S3	cervix:	n/a	chr11:64795274-64795288 chr11:64794950-64794964
10	MAZ	chr11:64794346-64795504	IMR90	lung:	n/a	n/a
11	REST	chr11:64794379-64795509	H1-neurons	neurons:	n/a	chr11:64794865-64794872 chr11:64794863-64794870
12	SIN3AK20	chr11:64794386-64795701	MCF-7	breast:	n/a	n/a
13	GATA3	chr11:64794528-64795419	A549	lung:	n/a	n/a
14	SP1	chr11:64794302-64795725	HCT-116	colon:	n/a	chr11:64795271-64795284 chr11:64794964-64794978 chr11:64795274-64795286 chr11:64795275-64795285 chr11:64795276-64795285 chr11:64795275-64795285 chr11:64795274-64795286 chr11:64795276-64795285 chr11:64795271-64795285 chr11:64795275-64795284
15	ELK4	chr11:64794414-64795147	Hela-S3	cervix:	n/a	n/a
16	MAX	chr11:64794371-64795677	A549	lung:	n/a	n/a
17	MXI1	chr11:64794256-64796089	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr11:64794477-64795378	HepG2	liver:	n/a	n/a
19	GTF3C2	chr11:64794299-64795867	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr11:64794531-64795790	Hela-S3	cervix:	n/a	chr11:64795707-64795718
21	TEAD4	chr11:64794533-64795576	K562	blood:	n/a	n/a
22	ATF2	chr11:64794510-64795537	GM12878	blood:	n/a	n/a
23	RCOR1	chr11:64794422-64795446	K562	blood:	n/a	n/a
24	MAX	chr11:64794274-64795719	HCT-116	colon:	n/a	n/a
25	RFX5	chr11:64794515-64795351	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:64794419-64795386	PFSK-1	brain:	n/a	n/a
27	MYBL2	chr11:64794530-64795570	HepG2	liver:	n/a	n/a
28	GTF2F1	chr11:64794462-64795533	Hela-S3	cervix:	n/a	n/a
29	ZNF143	chr11:64794522-64795432	K562	blood:	n/a	chr11:64794931-64794941
30	NFIC	chr11:64794532-64795421	ECC-1	luminal epithelium:	n/a	n/a
31	ATF2	chr11:64794485-64795377	GM12878	blood:	n/a	n/a
32	MAX	chr11:64794471-64795527	GM12878	blood:	n/a	n/a
33	STAT3	chr11:64794327-64795672	MCF10A-Er-Src	breast:	n/a	n/a
34	ZKSCAN1	chr11:64794516-64795359	Hela-S3	cervix:	n/a	n/a
35	FOS	chr11:64794385-64795343	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:64794337-64794857	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr11:64794397-64795518	MCF10A-Er-Src	breast:	n/a	n/a
38	TCF12	chr11:64794353-64795591	A549	lung:	n/a	n/a
39	POLR2A	chr11:64794437-64795752	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr11:64794422-64795530	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr11:64794456-64795515	GM12878	blood:	n/a	n/a
42	SP1	chr11:64794479-64795596	A549	lung:	n/a	chr11:64795271-64795284 chr11:64794964-64794978 chr11:64795274-64795286 chr11:64795275-64795285 chr11:64795276-64795285 chr11:64795275-64795285 chr11:64795274-64795286 chr11:64795276-64795285 chr11:64795271-64795285 chr11:64795275-64795284
43	FOSL2	chr11:64794471-64795424	A549	lung:	n/a	n/a
44	TBP	chr11:64794464-64795523	GM12878	blood:	n/a	n/a
45	KAP1	chr11:64794302-64795348	U2OS	brain:	n/a	n/a
46	NFIC	chr11:64794494-64795469	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr11:64794400-64795656	HCT-116	colon:	n/a	n/a
48	RAD21	chr11:64794523-64795456	Hela-S3	cervix:	n/a	chr11:64795270-64795283 chr11:64795272-64795282 chr11:64795267-64795286
49	POLR2A	chr11:64794510-64795626	SK-N-MC	brain:	n/a	n/a
50	FOS	chr11:64794337-64795369	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64781095..64782950-chr11:64792399..64795150,2	MCF-7	breast:
2	chr11:64793282..64795774-chr11:64807101..64811680,5	K562	blood:
3	chr11:64793895..64795790-chr11:64898693..64901313,2	K562	blood:
4	chr11:64610680..64612429-chr11:64793664..64796204,2	MCF-7	breast:
5	chr11:64793339..64795778-chr11:64887755..64890095,2	K562	blood:
6	chr11:64779606..64783503-chr11:64793292..64796940,8	MCF-7	breast:
7	chr11:64793389..64797015-chr11:64806765..64809007,6	K562	blood:
8	chr11:64643878..64648186-chr11:64793107..64797470,5	K562	blood:
9	chr11:64794293..64795197-chr12:108154412..108155256,2	Hela-S3	cervix:
10	chr11:64793560..64795544-chr11:64899674..64902650,3	K562	blood:
11	chr11:64793697..64796700-chr11:64806482..64812345,9	MCF-7	breast:
12	chr11:64785686..64787909-chr11:64793264..64794795,2	MCF-7	breast:
13	chr11:64793687..64796323-chr11:64849331..64852233,3	K562	blood:
14	chr11:64793181..64796302-chr11:64849635..64852378,4	MCF-7	breast:
15	chr11:64793866..64796535-chr11:64884856..64887631,3	K562	blood:
16	chr11:64545086..64548013-chr11:64793511..64795283,2	K562	blood:
17	chr11:64793292..64796781-chr11:64862367..64865846,4	K562	blood:
18	chr11:64792804..64795022-chr11:64876494..64879449,2	K562	blood:
19	chr11:64793793..64795353-chr11:64806843..64809654,4	MCF-7	breast:
20	chr11:64793383..64797474-chr11:64849331..64856424,6	K562	blood:
21	chr11:64654999..64656996-chr11:64793791..64795632,2	K562	blood:
22	chr11:64793819..64796993-chr11:64862794..64865846,5	K562	blood:
23	chr11:64788523..64790432-chr11:64793219..64795287,2	K562	blood:
24	chr11:64793758..64795371-chr11:64862909..64865149,3	MCF-7	breast:

Variant related genes	Relation type
SNX15	TF binding region
ENSG00000270775	TF binding region
ENSG00000149823	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000110851	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000213465	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10160811	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10792455	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17146589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670910	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34589041	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs481446	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs484147	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494837	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495820	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495935	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs497023	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533164	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs533301	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs542175	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs550771	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs561524	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs584698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs608772	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs613352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs633671	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664118	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689361	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
5	nsv983034	chr11:64792946-64795254	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 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	chr11:64782600-64794600	Weak transcription	Right Atrium	heart
2	chr11:64786600-64794600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:64788200-64794600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:64788800-64794800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:64789200-64794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:64789600-64794600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:64789600-64794600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:64789600-64794600	Weak transcription	Right Ventricle	heart
9	chr11:64789800-64794600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:64789800-64794600	Weak transcription	Gastric	stomach
11	chr11:64789800-64794600	Weak transcription	Left Ventricle	heart
12	chr11:64789800-64794600	Weak transcription	Ovary	ovary
13	chr11:64790000-64794600	Weak transcription	Primary T cells from cord blood	blood
14	chr11:64790000-64794600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:64790000-64794800	Weak transcription	Lung	lung
16	chr11:64790200-64794800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:64792400-64794600	Weak transcription	Colonic Mucosa	Colon
18	chr11:64793200-64795600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:64794200-64794600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:64794200-64794600	Enhancers	Esophagus	oesophagus
21	chr11:64794200-64794600	Enhancers	Fetal Muscle Leg	muscle
22	chr11:64794200-64794800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:64794200-64794800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:64794200-64794800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:64794200-64794800	Enhancers	Spleen	Spleen
26	chr11:64794200-64794800	Flanking Active TSS	Hela-S3	cervix
27	chr11:64794400-64794600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr11:64794400-64794600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:64794400-64794600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
30	chr11:64794400-64794600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:64794400-64794600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:64794400-64794600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:64794400-64794600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:64794400-64794600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:64794400-64794600	Enhancers	Primary B cells from cord blood	blood
36	chr11:64794400-64794600	Enhancers	Primary B cells from peripheral blood	blood
37	chr11:64794400-64794600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr11:64794400-64794600	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:64794400-64794600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:64794400-64794600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr11:64794400-64794600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:64794400-64794600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:64794400-64794600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr11:64794400-64794600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:64794400-64794600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr11:64794400-64794600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:64794400-64794600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:64794400-64794600	Enhancers	Aorta	Aorta
49	chr11:64794400-64794600	Enhancers	Liver	Liver
50	chr11:64794400-64794600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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