Variant report

Variant	rs4929943
Chromosome Location	chr11:8625354-8625355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8624366..8626614-chr11:8629060..8630632,2	K562	blood:
2	chr11:8386819..8387384-chr11:8625276..8626048,2	K562	blood:
3	chr11:8614329..8617137-chr11:8624383..8625976,2	K562	blood:
4	chr11:8625273..8626112-chr11:8816054..8816907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130413	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10160430	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10160804	0.85[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10160805	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10444244	0.96[CEU][hapmap]
rs10444316	0.96[CEU][hapmap]
rs10743072	0.84[EUR][1000 genomes]
rs10743074	0.82[EUR][1000 genomes]
rs10743076	0.96[CEU][hapmap]
rs10743078	0.90[ASN][1000 genomes]
rs10743079	0.90[ASN][1000 genomes]
rs10743080	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10743081	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743082	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.99[ASN][1000 genomes]
rs10769905	0.82[CEU][hapmap]
rs10769907	0.82[EUR][1000 genomes]
rs10769908	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs10769910	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10769915	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10769916	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10769918	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769919	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10769920	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10769921	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769922	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769923	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10769924	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10769925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769927	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840047	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs10840051	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10840055	0.84[EUR][1000 genomes]
rs10840056	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10840058	0.84[EUR][1000 genomes]
rs10840060	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs10840062	0.96[CEU][hapmap]
rs10840063	0.92[CEU][hapmap]
rs10840065	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs10840072	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10840077	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10840079	0.81[ASN][1000 genomes]
rs10840080	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10840081	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10840083	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840084	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10840085	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840087	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10840089	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10840091	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840100	0.84[MEX][hapmap]
rs10840103	0.82[CEU][hapmap]
rs11041924	0.81[EUR][1000 genomes]
rs11041929	0.88[CEU][hapmap];0.95[JPT][hapmap]
rs11041950	0.91[CEU][hapmap]
rs11041962	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11041974	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11041978	0.82[ASW][hapmap];0.96[CEU][hapmap];0.80[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs11041982	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs11041983	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11041985	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11041990	1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11041993	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11041994	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11041995	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11041997	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11041999	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042002	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11042023	0.84[MEX][hapmap]
rs11493772	0.83[EUR][1000 genomes]
rs12226478	0.85[ASN][1000 genomes]
rs12277932	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12575252	0.84[MEX][hapmap]
rs12576736	0.82[EUR][1000 genomes]
rs12785939	0.83[ASN][1000 genomes]
rs12805671	0.83[ASN][1000 genomes]
rs12806736	0.85[CEU][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs1374262	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1446462	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1446463	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1446464	0.85[CEU][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs1900272	0.81[CEU][hapmap]
rs1900273	0.88[CEU][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs2015629	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2028882	0.96[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs2044463	0.83[EUR][1000 genomes]
rs2289921	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs2289923	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs2311391	0.81[CEU][hapmap]
rs2316901	0.84[MEX][hapmap]
rs2871753	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs3969875	0.82[EUR][1000 genomes]
rs4131072	0.85[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4244804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4244806	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4344491	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4405311	0.87[ASN][1000 genomes]
rs4418812	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4475924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4520598	0.98[ASN][1000 genomes]
rs4612809	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4620720	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758067	0.85[CEU][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap]
rs4929923	0.84[MEX][hapmap]
rs4929927	0.84[MEX][hapmap]
rs4929929	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4929941	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.92[MKK][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4929942	0.83[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4929944	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4929945	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4929947	0.84[MEX][hapmap]
rs4929949	0.91[CEU][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4929950	0.85[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6484485	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6578968	0.85[EUR][1000 genomes]
rs6578969	0.84[EUR][1000 genomes]
rs7101471	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs7108993	0.82[CEU][hapmap]
rs7112153	0.96[CEU][hapmap];0.92[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs7113874	0.84[MEX][hapmap]
rs7120065	0.82[EUR][1000 genomes]
rs7126013	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs7126934	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs7127684	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs725502	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs726007	0.85[CEU][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap]
rs7924753	0.84[EUR][1000 genomes]
rs7929120	0.83[CEU][hapmap];0.83[ASN][1000 genomes]
rs7931604	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs7934396	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7935708	0.85[EUR][1000 genomes]
rs7939731	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs7945659	0.81[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs7947670	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs7949017	0.85[EUR][1000 genomes]
rs7950870	0.81[AMR][1000 genomes]
rs9284150	0.85[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]
rs9284151	0.84[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs9300088	0.85[ASN][1000 genomes]
rs9300089	0.93[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.87[ASN][1000 genomes]
rs9300090	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9300091	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9300092	0.82[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs9300093	0.96[CEU][hapmap]
rs9300094	0.89[ASN][1000 genomes]
rs935370	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes]
rs9705083	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9705253	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9736791	0.96[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9737312	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9737401	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751035	chr11:8431654-8685451	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv896983	chr11:8526643-8682465	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs4929943	RPL27A	cis	parietal	SCAN
rs4929943	STK33	cis	Artery Tibial	GTEx
rs4929943	STK33	cis	lymphoblastoid	seeQTL
rs4929943	ST5	cis	cerebellum	SCAN
rs4929943	C11orf17	cis	multi-tissue	Pritchard
rs4929943	STK33	cis	parietal	SCAN
rs4929943	RPL27A	cis	cerebellum	SCAN
rs4929943	OVCH2	cis	cerebellum	SCAN
rs4929943	SNORA45	cis	parietal	SCAN
rs4929943	STK33	cis	cerebellum	SCAN
rs4929943	TUB	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8616600-8625600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:8617000-8625400	Weak transcription	GM12878-XiMat	blood
3	chr11:8623200-8625800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:8623400-8625400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:8623400-8634200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:8623600-8625600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:8623600-8632000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:8625000-8625800	Enhancers	A549	lung
9	chr11:8625200-8625600	Enhancers	Hela-S3	cervix
10	chr11:8625200-8626200	Enhancers	NHEK	skin
11	chr11:8625200-8626800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:8625200-8626800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:8625200-8626800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:8625200-8626800	Enhancers	NHDF-Ad	bronchial
15	chr11:8625200-8626800	Enhancers	NHLF	lung
16	chr11:8625200-8626800	Enhancers	Osteobl	bone
17	chr11:8625200-8627600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:8625200-8627800	Enhancers	HMEC	breast
19	chr11:8625200-8628000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:8625200-8628600	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links