Variant report

Variant	rs12516791
Chromosome Location	chr5:167172169-167172170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10045430	0.90[JPT][hapmap]
rs10065043	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10454965	0.86[EUR][1000 genomes]
rs10462970	0.91[CHB][hapmap]
rs11134468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11134470	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11134471	0.88[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs11949355	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11956673	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12186530	0.85[EUR][1000 genomes]
rs12520082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520148	0.91[JPT][hapmap]
rs1364370	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs17069129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2337000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2337017	0.91[JPT][hapmap]
rs2337018	0.86[JPT][hapmap]
rs279402	0.91[JPT][hapmap]
rs4479863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4628015	0.91[JPT][hapmap]
rs4868807	0.89[CEU][hapmap];0.87[CHB][hapmap];0.83[EUR][1000 genomes]
rs4869067	0.90[JPT][hapmap]
rs4869068	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4869072	0.94[EUR][1000 genomes]
rs57533222	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57674698	0.86[EUR][1000 genomes]
rs58347375	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58922769	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60161912	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61165988	0.97[ASN][1000 genomes]
rs67767662	0.95[ASN][1000 genomes]
rs6862936	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6869167	0.93[ASN][1000 genomes]
rs6891311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6895940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6898153	0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72832005	0.91[EUR][1000 genomes]
rs72832012	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72832022	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7703715	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7708656	0.94[EUR][1000 genomes]
rs7717495	0.86[JPT][hapmap]
rs7730435	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[EUR][1000 genomes]
rs7737681	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[EUR][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:11 , 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	chr5:167170400-167177200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:167171000-167172600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:167171000-167181200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:167171400-167172600	Weak transcription	Fetal Heart	heart
7	chr5:167171600-167172200	Enhancers	NHEK	skin
8	chr5:167171600-167181800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:167171800-167177200	Weak transcription	HSMM	muscle
10	chr5:167171800-167180000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:167171800-167180000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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