Variant report

Variant	rs730256
Chromosome Location	chr5:167421492-167421493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10039736	0.91[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs11134483	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11134485	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11955430	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12522181	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12523097	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1345735	0.91[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17069646	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs1862419	0.91[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs2546944	0.95[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs2546957	0.90[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2546960	0.90[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2569047	0.95[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs2617956	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2617963	0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2617981	0.91[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs6890434	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs889067	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs985650	0.90[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs992047	0.86[CEU][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167413800-167432000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:167417200-167426400	Weak transcription	HSMM	muscle
3	chr5:167418400-167421600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:167418600-167426000	Weak transcription	Fetal Lung	lung
5	chr5:167419200-167423400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167419200-167428000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:167419800-167424600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:167420000-167423400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:167420400-167422000	Genic enhancers	HMEC	breast
10	chr5:167420400-167422400	Genic enhancers	NHEK	skin
11	chr5:167420800-167421600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:167420800-167421600	Enhancers	Left Ventricle	heart
13	chr5:167420800-167421600	Enhancers	Right Atrium	heart
14	chr5:167420800-167423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:167420800-167423600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:167420800-167425600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:167421000-167428000	Weak transcription	Right Ventricle	heart
18	chr5:167421200-167422200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:167421200-167422200	Enhancers	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links