Variant report

Variant	rs712863
Chromosome Location	chr1:223377606-223377607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223375371..223378138-chr1:223404796..223406489,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11485986	0.98[ASN][1000 genomes]
rs11485987	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs1612521	0.91[ASN][1000 genomes]
rs1640803	1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs1640811	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs1640812	0.86[JPT][hapmap]
rs1640813	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs1640816	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs1773719	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1773722	0.91[ASN][1000 genomes]
rs1773723	0.91[ASN][1000 genomes]
rs1935305	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs2160152	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2430407	0.95[ASN][1000 genomes]
rs2430408	0.95[ASN][1000 genomes]
rs2430410	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3121256	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35797130	0.91[ASN][1000 genomes]
rs3768284	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4661283	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4661284	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5744122	1.00[CEU][hapmap]
rs5744135	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs5744138	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs5744139	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs5744140	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs5744143	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs5744149	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs712862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712865	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725972	0.91[ASN][1000 genomes]
rs73120253	0.98[ASN][1000 genomes]
rs73120267	1.00[ASN][1000 genomes]
rs73120269	1.00[ASN][1000 genomes]
rs851140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs851144	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851146	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851147	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs851148	1.00[CEU][hapmap]
rs851151	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851152	1.00[CEU][hapmap]
rs851153	1.00[CEU][hapmap]
rs851156	0.87[EUR][1000 genomes]
rs851160	1.00[ASN][1000 genomes]
rs851163	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851165	0.82[AFR][1000 genomes]
rs851211	1.00[GIH][hapmap];0.85[JPT][hapmap]
rs851215	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs860372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap]
rs988241	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs988242	1.00[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223371200-223389800	Weak transcription	Gastric	stomach
2	chr1:223375600-223378600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:223376200-223378200	Enhancers	Fetal Thymus	thymus
4	chr1:223376800-223377800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:223377000-223392200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:223377200-223379600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:223377400-223382400	Weak transcription	K562	blood

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