Variant report

Variant	rs4294494
Chromosome Location	chr10:90916562-90916563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10430718	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10509567	0.85[AMR][1000 genomes]
rs10887920	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10887921	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10887922	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10887923	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10887925	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10887926	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10887927	0.85[AMR][1000 genomes]
rs10887928	0.85[AMR][1000 genomes]
rs10887929	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10887932	1.00[AFR][1000 genomes]
rs11203006	0.97[ASN][1000 genomes]
rs11203009	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11203011	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11203014	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11203017	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11203018	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11203024	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11203025	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11203030	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11203031	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11203032	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11203033	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12217507	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12219735	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17117088	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17117124	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17117126	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1977501	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2154255	0.85[AMR][1000 genomes]
rs2211599	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2863216	0.85[AMR][1000 genomes]
rs2902445	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3802658	1.00[AFR][1000 genomes]
rs3923282	0.82[AMR][1000 genomes]
rs4078488	1.00[AFR][1000 genomes]
rs4399251	0.85[AMR][1000 genomes]
rs4417181	1.00[AFR][1000 genomes]
rs4617498	0.85[AMR][1000 genomes]
rs4933494	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4934454	0.93[ASN][1000 genomes]
rs61853072	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6586173	0.93[ASN][1000 genomes]
rs7076185	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7098394	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7477966	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7896174	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9651424	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9651495	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831944	chr10:90822654-90967018	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758235	chr10:90835064-91017486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759775	chr10:90835064-91017486	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv895881	chr10:90842431-90940003	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90912200-90917600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr10:90913200-90917200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:90913200-90918200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:90913400-90917800	Weak transcription	Osteobl	bone
5	chr10:90913400-90923000	Weak transcription	NHEK	skin
6	chr10:90913600-90917200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr10:90913600-90918400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:90913600-90923000	Weak transcription	HMEC	breast
9	chr10:90913800-90918800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:90915400-90917400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr10:90915600-90916800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr10:90915800-90916600	Enhancers	GM12878-XiMat	blood
13	chr10:90916000-90916600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr10:90916000-90916800	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:90916000-90917400	Enhancers	Primary B cells from cord blood	blood
16	chr10:90916000-90921200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:90916200-90916600	Enhancers	Primary hematopoietic stem cells	blood
18	chr10:90916400-90918400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:90916400-90919600	Enhancers	NHDF-Ad	bronchial

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