Variant report

Variant	rs1375462
Chromosome Location	chr5:119936128-119936129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10040356	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10042936	0.94[ASN][1000 genomes]
rs10042938	0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs10054070	1.00[JPT][hapmap]
rs10059619	0.85[ASN][1000 genomes]
rs10060316	1.00[JPT][hapmap]
rs10060342	1.00[JPT][hapmap]
rs10066878	1.00[JPT][hapmap]
rs10069230	1.00[JPT][hapmap]
rs10069291	1.00[JPT][hapmap]
rs10074952	0.85[ASN][1000 genomes]
rs10077623	0.85[ASN][1000 genomes]
rs10078379	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10078711	0.94[ASN][1000 genomes]
rs1037565	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13355058	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13356254	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13357710	0.85[ASN][1000 genomes]
rs13359996	0.85[ASN][1000 genomes]
rs13360650	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13362045	0.85[ASN][1000 genomes]
rs1524560	1.00[JPT][hapmap]
rs1524562	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524565	0.82[JPT][hapmap]
rs1584463	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584464	0.84[YRI][hapmap]
rs1584465	0.84[YRI][hapmap]
rs1584468	0.83[YRI][hapmap]
rs1597285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997004	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs1997005	0.84[AMR][1000 genomes]
rs2085179	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28517751	0.97[ASN][1000 genomes]
rs28657882	0.85[ASN][1000 genomes]
rs28697043	0.85[ASN][1000 genomes]
rs4413562	0.85[ASN][1000 genomes]
rs7356735	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7703789	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv948613	chr5:119861955-119999008	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv599602	chr5:119866504-120023393	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv949499	chr5:119869763-119999008	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119934400-119936400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:119934600-119937400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:119935200-119936600	Enhancers	HMEC	breast
4	chr5:119935600-119938600	Weak transcription	NHDF-Ad	bronchial
5	chr5:119935600-119940200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:119935800-119936400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:119935800-119936600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:119935800-119939600	Weak transcription	HSMM	muscle
9	chr5:119935800-119940000	Weak transcription	NHLF	lung
10	chr5:119935800-119940200	Weak transcription	Hela-S3	cervix
11	chr5:119936000-119938200	Weak transcription	Osteobl	bone

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