Variant report

Variant	rs4838530
Chromosome Location	chr10:50777549-50777550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50769095..50771417-chr10:50774522..50778090,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1018603	1.00[ASN][1000 genomes]
rs10745261	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776572	1.00[ASN][1000 genomes]
rs10776573	1.00[ASN][1000 genomes]
rs10776577	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857502	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101147	1.00[ASN][1000 genomes]
rs1475255	1.00[ASN][1000 genomes]
rs1917800	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924490	1.00[ASN][1000 genomes]
rs1924492	1.00[ASN][1000 genomes]
rs2103201	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104346	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240509	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4253026	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253073	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253077	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253087	1.00[ASN][1000 genomes]
rs4253120	1.00[ASN][1000 genomes]
rs4253132	1.00[ASN][1000 genomes]
rs4253162	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253164	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253179	1.00[ASN][1000 genomes]
rs4838523	1.00[ASN][1000 genomes]
rs4838524	1.00[ASN][1000 genomes]
rs57509152	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537536	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537538	1.00[ASN][1000 genomes]
rs7072383	0.86[EUR][1000 genomes]
rs7076173	1.00[ASN][1000 genomes]
rs7080017	1.00[ASN][1000 genomes]
rs7091005	1.00[ASN][1000 genomes]
rs72792895	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72793798	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902661	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903788	1.00[ASN][1000 genomes]
rs7903930	1.00[ASN][1000 genomes]
rs7916873	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923762	1.00[ASN][1000 genomes]
rs912470	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958967	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50771800-50779400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:50775600-50778800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:50775600-50780400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:50776000-50778000	Flanking Active TSS	Hela-S3	cervix
5	chr10:50776200-50778000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:50776400-50778000	Flanking Active TSS	Osteobl	bone
7	chr10:50776400-50778200	Enhancers	Placenta	Placenta
8	chr10:50776600-50777600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:50776600-50778200	Enhancers	NHEK	skin
10	chr10:50776800-50777800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr10:50777000-50778000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr10:50777200-50777600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:50777200-50779000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:50777200-50780200	Enhancers	HMEC	breast
15	chr10:50777400-50779400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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