Variant report

Variant	rs4680370
Chromosome Location	chr3:157193630-157193631
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11709669	0.83[CHB][hapmap]
rs12631456	0.94[CEU][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1378794	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1378800	0.82[CHB][hapmap]
rs1456101	0.82[CHB][hapmap]
rs1456102	0.88[CHB][hapmap]
rs17470517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1824056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1902347	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28690487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679795	0.82[CHB][hapmap]
rs4679798	0.94[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57095742	0.91[EUR][1000 genomes]
rs7639175	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9815250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9851066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9859018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9873474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9877620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][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	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr3:157160400-157195000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:157185600-157211400	Weak transcription	HSMM	muscle
3	chr3:157187600-157210600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:157188000-157203000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:157188200-157193800	Weak transcription	Osteobl	bone
6	chr3:157189200-157193800	Weak transcription	HUVEC	blood vessel
7	chr3:157189400-157199400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:157193200-157194600	Enhancers	NHDF-Ad	bronchial
9	chr3:157193400-157194000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:157193400-157194200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:157193400-157194200	Enhancers	K562	blood
12	chr3:157193400-157194600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:157193400-157194800	Enhancers	NHLF	lung
14	chr3:157193600-157194000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:157193600-157194200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:157193600-157194400	Enhancers	NH-A	brain
17	chr3:157193600-157194800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:157193600-157195200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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