Variant report

Variant	rs9686370
Chromosome Location	chr5:119940066-119940067
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10053278	0.82[JPT][hapmap]
rs1037569	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs1037570	0.94[ASN][1000 genomes]
rs10434768	1.00[YRI][hapmap]
rs10519647	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs13173880	1.00[ASN][1000 genomes]
rs1524563	0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17429630	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs17500705	0.82[JPT][hapmap]
rs17501872	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs17501927	1.00[YRI][hapmap]
rs2168216	0.98[ASN][1000 genomes]
rs56126743	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62377807	0.81[AMR][1000 genomes]
rs6862435	0.82[CHB][hapmap]
rs72792297	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792301	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72794307	0.80[AMR][1000 genomes]
rs72794308	0.80[AMR][1000 genomes]
rs72794341	0.81[AMR][1000 genomes]
rs72794345	0.81[AMR][1000 genomes]
rs72798425	0.81[AMR][1000 genomes]
rs7737318	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9285891	0.82[JPT][hapmap]
rs9285892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9327153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9327154	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9327155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9327156	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9327157	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9716009	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9717178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9764195	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs985263	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119935600-119940200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119935800-119940200	Weak transcription	Hela-S3	cervix
3	chr5:119938200-119940400	Enhancers	Osteobl	bone
4	chr5:119938600-119941400	Weak transcription	Left Ventricle	heart
5	chr5:119938600-119946000	Enhancers	NHDF-Ad	bronchial
6	chr5:119938800-119950000	Weak transcription	Aorta	Aorta
7	chr5:119939400-119940400	Enhancers	HSMMtube	muscle
8	chr5:119939400-119941600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:119939600-119940600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr5:119939800-119942600	Enhancers	NH-A	brain
11	chr5:119939800-119944600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:119940000-119940200	Flanking Active TSS	HSMM	muscle
13	chr5:119940000-119940600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:119940000-119942000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:119940000-119942000	Enhancers	NHEK	skin
16	chr5:119940000-119942600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:119940000-119942600	Enhancers	HMEC	breast
18	chr5:119940000-119943400	Enhancers	NHLF	lung

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