Variant report

Variant	rs11111664
Chromosome Location	chr12:103976913-103976914
allele	A/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	MAFK	chr12:103976774-103977301	IMR90	lung:	n/a	chr12:103977019-103977033 chr12:103977016-103977036 chr12:103977021-103977036 chr12:103977018-103977034
2	NFIC	chr12:103976642-103977122	ECC-1	luminal epithelium:	n/a	chr12:103976898-103976914 chr12:103976899-103976916 chr12:103976900-103976916 chr12:103976898-103976915
3	MAFF	chr12:103976829-103977238	HepG2	liver:	n/a	chr12:103977020-103977038 chr12:103977019-103977033
4	MAFF	chr12:103976757-103977215	K562	blood:	n/a	chr12:103977020-103977038 chr12:103977019-103977033
5	GATA3	chr12:103976701-103977100	SK-N-SH	brain:	n/a	n/a
6	MAFK	chr12:103976723-103977300	H1-hESC	embryonic stem cell:	n/a	chr12:103977019-103977033 chr12:103977016-103977036 chr12:103977021-103977036 chr12:103977018-103977034
7	STAT3	chr12:103976794-103977080	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFK	chr12:103976844-103977214	HepG2	liver:	n/a	chr12:103977019-103977033 chr12:103977016-103977036 chr12:103977021-103977036 chr12:103977018-103977034
9	FOS	chr12:103976812-103977049	MCF10A-Er-Src	breast:	n/a	n/a
10	MAFK	chr12:103976639-103977574	GM12878	blood:	n/a	chr12:103977019-103977033 chr12:103977016-103977036 chr12:103977021-103977036 chr12:103977018-103977034
11	MAFK	chr12:103976697-103977231	K562	blood:	n/a	chr12:103977019-103977033 chr12:103977016-103977036 chr12:103977021-103977036 chr12:103977018-103977034
12	FOS	chr12:103976773-103977093	MCF10A-Er-Src	breast:	n/a	n/a
13	MAFK	chr12:103976819-103977230	HepG2	liver:	n/a	chr12:103977019-103977033 chr12:103977016-103977036 chr12:103977021-103977036 chr12:103977018-103977034
14	GATA3	chr12:103976651-103977306	MCF-7	breast:	n/a	chr12:103977264-103977280
15	IRF1	chr12:103976862-103977191	K562	blood:	n/a	n/a
16	MAFK	chr12:103976750-103977316	Hela-S3	cervix:	n/a	chr12:103977019-103977033 chr12:103977016-103977036 chr12:103977021-103977036 chr12:103977018-103977034
17	STAT3	chr12:103976794-103977016	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:103974772..103977268-chr12:103979436..103981472,2	K562	blood:

Variant related genes	Relation type
STAB2	TF binding region
ENSG00000136011	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10507167	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1070073	0.87[ASN][1000 genomes]
rs10861037	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10861038	0.85[ASN][1000 genomes]
rs1104981	0.96[ASN][1000 genomes]
rs11111649	0.84[ASN][1000 genomes]
rs11111659	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11111661	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111662	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111663	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111668	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11111670	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11532373	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11831074	0.84[ASN][1000 genomes]
rs11835633	0.84[ASN][1000 genomes]
rs12229297	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12578790	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12579074	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17034112	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034140	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2723889	0.87[ASN][1000 genomes]
rs4321042	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11111664	STAB2	cis	multi-tissue	Pritchard

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103974200-103977000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:103976000-103977200	Enhancers	NHEK	skin
3	chr12:103976400-103977200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:103976800-103977200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:103976800-103977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:103976800-103977400	Enhancers	HMEC	breast

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