Variant report

Variant	rs4963970
Chromosome Location	chr12:26339645-26339646
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11048402	1.00[ASW][hapmap]
rs12318480	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12818979	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12822290	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12827659	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12829316	1.00[ASN][1000 genomes]
rs1480037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1531649	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17366300	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17366955	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17367221	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17380333	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17380416	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17380788	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17381729	1.00[MKK][hapmap]
rs17463675	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17464133	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17464383	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1871557	0.81[EUR][1000 genomes]
rs34371272	1.00[ASN][1000 genomes]
rs34753809	1.00[ASN][1000 genomes]
rs4963650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4963958	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4963960	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4963962	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4963965	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4963966	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57749967	0.89[ASN][1000 genomes]
rs57948457	0.89[ASN][1000 genomes]
rs58292015	1.00[ASN][1000 genomes]
rs58769131	0.89[ASN][1000 genomes]
rs59631457	1.00[ASN][1000 genomes]
rs61139398	0.89[ASN][1000 genomes]
rs71438624	0.82[ASN][1000 genomes]
rs73292989	1.00[ASN][1000 genomes]
rs73292998	1.00[ASN][1000 genomes]
rs7358598	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26337800-26341800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:26338000-26341800	Enhancers	HMEC	breast
3	chr12:26338200-26341800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:26338200-26341800	Enhancers	NHEK	skin
5	chr12:26338400-26340200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:26338400-26341800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:26338400-26341800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:26338600-26340200	Enhancers	Psoas Muscle	Psoas
9	chr12:26338600-26341000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:26338800-26339800	Weak transcription	HSMM	muscle
11	chr12:26338800-26340000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:26338800-26340000	Weak transcription	Placenta	Placenta
13	chr12:26338800-26340800	Weak transcription	NH-A	brain
14	chr12:26338800-26348200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:26339600-26339800	Enhancers	Brain Substantia Nigra	brain
16	chr12:26339600-26340800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:26339600-26341400	Enhancers	Hela-S3	cervix
18	chr12:26339600-26341800	Enhancers	NHDF-Ad	bronchial

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