Variant report

Variant	rs2972793
Chromosome Location	chr5:29812234-29812235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:29805693..29809011-chr5:29809552..29813804,3	MCF-7	breast:
2	chr5:29720751..29721441-chr5:29812006..29812656,2	MCF-7	breast:
3	chr5:29367263..29368784-chr5:29811787..29812627,6	MCF-7	breast:
4	chr5:29367557..29368187-chr5:29811640..29812581,2	MCF-7	breast:
5	chr5:29802968..29807767-chr5:29809670..29813095,5	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10055234	0.87[ASN][1000 genomes]
rs10065453	0.87[ASN][1000 genomes]
rs10078174	0.87[ASN][1000 genomes]
rs12153594	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12522268	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12658641	0.85[EUR][1000 genomes]
rs13353833	0.87[ASN][1000 genomes]
rs1366309	0.87[ASN][1000 genomes]
rs1428310	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1428313	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs1428319	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1428320	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1428322	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1428344	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1978607	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs2052839	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2115186	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2914135	1.00[JPT][hapmap]
rs2925527	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972785	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972792	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4315931	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4352612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365853	1.00[EUR][1000 genomes]
rs4416614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493688	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4867210	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs5025815	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6450723	0.87[ASN][1000 genomes]
rs6450725	0.87[ASN][1000 genomes]
rs7723603	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016603	chr5:29102713-29843965	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv537712	chr5:29102713-29843965	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3385368	chr5:29548608-29910057	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1026460	chr5:29785485-29814309	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1034228	chr5:29785485-29815868	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv1018046	chr5:29785776-29818396	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv1019541	chr5:29786932-29814309	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv1016811	chr5:29786932-29824596	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29812200-29814800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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