Variant report

Variant	rs4624810
Chromosome Location	chr5:167171748-167171749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10070839	0.82[CHB][hapmap]
rs10454965	0.84[JPT][hapmap]
rs10516038	0.95[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11134472	0.91[CEU][hapmap]
rs11738000	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11750131	0.95[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12651802	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12657288	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13436455	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1364368	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs1364369	0.81[CHB][hapmap]
rs1421990	0.84[JPT][hapmap]
rs1834118	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2018599	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2336972	0.83[AMR][1000 genomes]
rs2337000	0.85[EUR][1000 genomes]
rs2911499	0.87[CEU][hapmap]
rs2973664	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35366185	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4479863	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs4583906	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61165988	0.94[EUR][1000 genomes]
rs6862936	0.86[CEU][hapmap];0.94[EUR][1000 genomes]
rs6863601	0.87[CEU][hapmap]
rs6879227	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6880746	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs6891311	0.82[CEU][hapmap];0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7703401	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167170000-167172200	Enhancers	HMEC	breast
2	chr5:167170000-167172400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:167170200-167171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:167170200-167171800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:167170400-167177200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:167171000-167171800	Enhancers	Pancreas	Pancrea
7	chr5:167171000-167171800	Enhancers	HSMM	muscle
8	chr5:167171000-167172600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:167171000-167181200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:167171200-167171800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:167171400-167172600	Weak transcription	Fetal Heart	heart
12	chr5:167171600-167172200	Enhancers	NHEK	skin
13	chr5:167171600-167181800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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