Variant report

Variant	rs7714599
Chromosome Location	chr5:108502998-108502999
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:108501705..108503584-chr5:108505891..108508544,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10043207	0.89[JPT][hapmap]
rs10062069	0.89[JPT][hapmap]
rs11948270	1.00[JPT][hapmap]
rs11948684	1.00[JPT][hapmap]
rs11950761	0.81[ASN][1000 genomes]
rs11951285	0.88[JPT][hapmap]
rs11951595	1.00[JPT][hapmap]
rs11955924	1.00[JPT][hapmap]
rs11958129	1.00[JPT][hapmap]
rs11960400	1.00[JPT][hapmap]
rs12153527	1.00[JPT][hapmap]
rs12153646	1.00[JPT][hapmap]
rs1366081	0.89[JPT][hapmap]
rs1896582	0.89[JPT][hapmap]
rs2416197	0.89[JPT][hapmap]
rs3797832	0.89[JPT][hapmap]
rs3797833	0.88[JPT][hapmap]
rs3797834	1.00[JPT][hapmap]
rs3797837	1.00[JPT][hapmap]
rs3797844	1.00[ASN][1000 genomes]
rs3797847	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3797848	1.00[ASN][1000 genomes]
rs3797849	1.00[ASN][1000 genomes]
rs3822684	1.00[JPT][hapmap]
rs3822685	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs59672639	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59812973	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865572	0.89[JPT][hapmap]
rs6872299	1.00[JPT][hapmap]
rs6882698	1.00[JPT][hapmap]
rs6883750	1.00[CEU][hapmap]
rs6884133	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6893501	1.00[JPT][hapmap]
rs72796601	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709840	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[ASN][1000 genomes]
rs7717569	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718925	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7729380	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9885203	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:108468800-108521800	Weak transcription	Aorta	Aorta
2	chr5:108476000-108519200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:108476200-108506800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
5	chr5:108495200-108506200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:108496000-108532800	Weak transcription	Ovary	ovary
7	chr5:108497600-108508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:108497800-108517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:108498800-108512600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:108499000-108513200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle
12	chr5:108501000-108521800	Weak transcription	Primary T cells from cord blood	blood
13	chr5:108502200-108522200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:108502600-108503400	Weak transcription	Psoas Muscle	Psoas
15	chr5:108502800-108503600	Enhancers	Fetal Heart	heart

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