Variant report

Variant	rs11940626
Chromosome Location	chr4:55383559-55383560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55382727..55385050-chr4:55388205..55390548,4	K562	blood:
2	chr4:55378848..55381220-chr4:55383036..55384578,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10009832	1.00[EUR][1000 genomes]
rs10016644	1.00[EUR][1000 genomes]
rs10032723	1.00[EUR][1000 genomes]
rs1025931	1.00[EUR][1000 genomes]
rs1025932	1.00[EUR][1000 genomes]
rs1036969	1.00[EUR][1000 genomes]
rs10746546	1.00[EUR][1000 genomes]
rs1156182	1.00[EUR][1000 genomes]
rs11934042	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11936787	1.00[AMR][1000 genomes]
rs12508708	1.00[EUR][1000 genomes]
rs1354959	1.00[EUR][1000 genomes]
rs1492764	1.00[EUR][1000 genomes]
rs1507960	1.00[EUR][1000 genomes]
rs1507967	1.00[EUR][1000 genomes]
rs1507969	1.00[EUR][1000 genomes]
rs1507975	1.00[EUR][1000 genomes]
rs1562057	1.00[EUR][1000 genomes]
rs1867403	1.00[EUR][1000 genomes]
rs1976222	1.00[EUR][1000 genomes]
rs1978281	1.00[EUR][1000 genomes]
rs2135969	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412562	1.00[EUR][1000 genomes]
rs2412580	1.00[EUR][1000 genomes]
rs2537868	1.00[EUR][1000 genomes]
rs2537869	1.00[EUR][1000 genomes]
rs2537870	1.00[EUR][1000 genomes]
rs2537871	1.00[EUR][1000 genomes]
rs2537877	1.00[EUR][1000 genomes]
rs2703466	1.00[EUR][1000 genomes]
rs2703470	1.00[EUR][1000 genomes]
rs2703471	1.00[EUR][1000 genomes]
rs2703482	1.00[EUR][1000 genomes]
rs2703483	1.00[EUR][1000 genomes]
rs2703490	1.00[EUR][1000 genomes]
rs2855769	1.00[EUR][1000 genomes]
rs2855775	1.00[EUR][1000 genomes]
rs2855776	1.00[EUR][1000 genomes]
rs2855779	1.00[EUR][1000 genomes]
rs2899006	1.00[EUR][1000 genomes]
rs2899007	1.00[EUR][1000 genomes]
rs2969156	1.00[EUR][1000 genomes]
rs2969157	1.00[EUR][1000 genomes]
rs2969160	1.00[EUR][1000 genomes]
rs2969161	1.00[EUR][1000 genomes]
rs3020819	1.00[EUR][1000 genomes]
rs3020824	1.00[EUR][1000 genomes]
rs3020828	1.00[EUR][1000 genomes]
rs3111792	1.00[EUR][1000 genomes]
rs3111799	1.00[EUR][1000 genomes]
rs3111808	1.00[EUR][1000 genomes]
rs3111809	1.00[EUR][1000 genomes]
rs3134886	1.00[EUR][1000 genomes]
rs3134888	1.00[EUR][1000 genomes]
rs35111648	1.00[AMR][1000 genomes]
rs4864885	1.00[EUR][1000 genomes]
rs4864886	1.00[EUR][1000 genomes]
rs4864888	1.00[EUR][1000 genomes]
rs56744789	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58974096	1.00[AMR][1000 genomes]
rs59971610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61529553	0.80[AFR][1000 genomes]
rs6812224	1.00[EUR][1000 genomes]
rs6841931	1.00[EUR][1000 genomes]
rs6851205	1.00[EUR][1000 genomes]
rs6855353	1.00[EUR][1000 genomes]
rs73148424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73150417	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73155466	0.80[AFR][1000 genomes]
rs73157485	1.00[AMR][1000 genomes]
rs73157627	1.00[AMR][1000 genomes]
rs73159412	1.00[AMR][1000 genomes]
rs73159433	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73159438	1.00[AMR][1000 genomes]
rs7356494	1.00[EUR][1000 genomes]
rs7661226	1.00[EUR][1000 genomes]
rs925139	1.00[EUR][1000 genomes]
rs931914	1.00[EUR][1000 genomes]
rs9999573	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55381800-55383800	Enhancers	NHEK	skin
2	chr4:55382000-55384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:55382200-55384200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:55382400-55383800	Enhancers	NHDF-Ad	bronchial
5	chr4:55382600-55383600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:55382600-55383600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:55382600-55384000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:55382800-55383600	Enhancers	Brain Anterior Caudate	brain
9	chr4:55382800-55383800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:55382800-55384000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:55382800-55384400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:55383200-55384000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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