Variant report

Variant	rs12301507
Chromosome Location	chr12:44394202-44394203
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44393907..44394577-chr12:45342454..45343052,2	MCF-7	breast:
2	chr12:44393933..44394766-chr12:45324489..45325458,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10880616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10880617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10880618	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182384	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11182385	1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs11182396	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11182402	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs11182405	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs12099769	1.00[JPT][hapmap]
rs12230287	0.83[AMR][1000 genomes]
rs12296857	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13377809	0.82[MEX][hapmap]
rs1565620	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs1701083	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17094007	1.00[MEX][hapmap]
rs17094013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17121301	0.82[CEU][hapmap]
rs1976211	1.00[JPT][hapmap]
rs2407788	0.90[TSI][hapmap]
rs3929354	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs56227915	0.83[AMR][1000 genomes]
rs56337317	0.83[AMR][1000 genomes]
rs6582494	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6582495	1.00[CHB][hapmap]
rs7136217	1.00[MEX][hapmap]
rs7303909	1.00[MEX][hapmap]
rs73087684	0.83[AMR][1000 genomes]
rs73087700	0.83[AMR][1000 genomes]
rs73091745	0.83[AMR][1000 genomes]
rs7312422	0.91[TSI][hapmap]
rs7959226	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs7980005	1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs842194	1.00[JPT][hapmap]
rs9919676	1.00[JPT][hapmap]
rs9919742	1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
3	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44386800-44394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:44387400-44399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:44387600-44399400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:44390000-44394400	Weak transcription	HepG2	liver
8	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
9	chr12:44394000-44394600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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