Variant report

Variant	rs749629
Chromosome Location	chr5:41250721-41250722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41245805..41247360-chr5:41249520..41252230,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1008761	0.83[ASN][1000 genomes]
rs1025043	0.88[ASN][1000 genomes]
rs10512757	0.86[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap]
rs10512762	0.83[ASN][1000 genomes]
rs10512766	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11748979	0.83[ASN][1000 genomes]
rs13158601	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13158729	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs13159740	0.92[ASN][1000 genomes]
rs13167227	0.91[ASN][1000 genomes]
rs13167951	0.88[ASN][1000 genomes]
rs13177483	0.89[CHD][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs13182727	0.88[ASN][1000 genomes]
rs13185550	0.93[ASN][1000 genomes]
rs13189407	0.83[ASN][1000 genomes]
rs1345800	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs17201103	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17257858	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17259287	0.83[ASN][1000 genomes]
rs17260165	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17260228	0.88[ASN][1000 genomes]
rs17260948	0.98[ASN][1000 genomes]
rs1822822	0.97[ASN][1000 genomes]
rs34205640	0.93[ASN][1000 genomes]
rs34336834	0.88[ASN][1000 genomes]
rs34675731	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35179056	0.97[ASN][1000 genomes]
rs35807549	0.81[ASN][1000 genomes]
rs35915011	0.83[ASN][1000 genomes]
rs35931290	0.83[ASN][1000 genomes]
rs3792909	0.86[ASN][1000 genomes]
rs3792910	0.88[ASN][1000 genomes]
rs3805713	0.88[ASN][1000 genomes]
rs4552672	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4642410	0.91[ASN][1000 genomes]
rs62361614	0.97[ASN][1000 genomes]
rs6876819	0.88[CHB][hapmap]
rs6883180	0.85[ASN][1000 genomes]
rs6898364	0.88[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap]
rs72753945	0.83[ASN][1000 genomes]
rs7723986	0.92[ASN][1000 genomes]
rs7727839	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9292802	0.83[ASN][1000 genomes]
rs9332457	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427717	chr5:41201377-41369202	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv4808	chr5:41203254-41251985	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830269	chr5:41209113-41393536	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv597879	chr5:41229277-41253853	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41247000-41251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:41250000-41251000	Enhancers	Placenta	Placenta
3	chr5:41250600-41252600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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