Variant report

Variant	rs692892
Chromosome Location	chr11:66348503-66348504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66347129..66350093-chr11:66403365..66405848,2	K562	blood:
2	chr11:66346390..66349376-chr11:66443952..66446184,2	MCF-7	breast:
3	chr11:66347094..66348628-chr11:66405594..66407891,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173933	Chromatin interaction
ENSG00000173914	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10791881	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs12577111	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap]
rs12805133	0.88[GIH][hapmap]
rs1671064	0.83[CHB][hapmap];0.80[GIH][hapmap]
rs1791684	0.96[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1815739	0.83[CHB][hapmap];0.80[GIH][hapmap]
rs2276138	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap]
rs34900764	0.85[EUR][1000 genomes]
rs3741363	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs474602	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs477557	0.81[EUR][1000 genomes]
rs486584	1.00[CEU][hapmap];0.83[CHB][hapmap];0.98[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4930387	1.00[CEU][hapmap]
rs498045	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs503250	0.96[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs509556	0.83[CHB][hapmap];0.88[GIH][hapmap]
rs535211	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs540874	0.83[CHB][hapmap]
rs556759	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs560556	0.83[CHB][hapmap];0.88[GIH][hapmap]
rs566673	0.87[ASW][hapmap];0.85[CEU][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.80[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs572846	0.83[CHB][hapmap];0.88[GIH][hapmap]
rs577023	0.96[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs577335	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs580910	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs636128	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs677488	0.83[CHB][hapmap];0.88[GIH][hapmap]
rs678397	0.83[CHB][hapmap];0.88[GIH][hapmap]
rs7925108	0.88[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs692892	UNC93B1	cis	cerebellum	SCAN
rs692892	ACTN3	cis	Muscle Skeletal	GTEx
rs692892	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs692892	BBS1	cis	cerebellum	SCAN
rs692892	CDC42EP2	cis	cerebellum	SCAN
rs692892	CCDC85B	cis	parietal	SCAN
rs692892	CTSF	cis	cerebellum	SCAN
rs692892	CTSF	cis	parietal	SCAN
rs692892	PRDX5	cis	cerebellum	SCAN
rs692892	ACTN3	cis	lymphoblastoid	seeQTL
rs692892	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs692892	TRMT112	cis	cerebellum	SCAN
rs692892	YIF1A	cis	cerebellum	SCAN
rs692892	CCS	cis	multi-tissue	Pritchard
rs692892	CCS	cis	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66338400-66350600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66345000-66348600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:66346600-66351000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr11:66347000-66359200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:66347200-66348600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:66347200-66348600	Weak transcription	Right Atrium	heart
7	chr11:66348200-66349000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:66348400-66348600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:66348400-66348600	Enhancers	K562	blood
10	chr11:66348400-66348800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:66348400-66348800	Enhancers	Osteobl	bone
12	chr11:66348400-66349000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:66348400-66349000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links