Variant report

Variant	rs7136217
Chromosome Location	chr12:44393013-44393014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1098878	0.88[JPT][hapmap]
rs11182382	0.88[JPT][hapmap]
rs11182385	1.00[MEX][hapmap];0.89[TSI][hapmap]
rs11182402	0.82[MEX][hapmap]
rs11182405	0.82[MEX][hapmap];0.83[TSI][hapmap]
rs11612946	0.86[CHB][hapmap]
rs12296857	1.00[MEX][hapmap]
rs12301507	1.00[MEX][hapmap]
rs13377809	0.82[MEX][hapmap]
rs1505583	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs1531402	0.83[TSI][hapmap]
rs1532218	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1565620	0.82[MEX][hapmap];0.89[TSI][hapmap]
rs1688726	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs17093973	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17093993	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094007	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17121301	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2407789	0.84[TSI][hapmap]
rs2407791	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55641600	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55657021	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55773976	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55834309	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55917469	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56011342	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56081380	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56114967	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56122564	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56227915	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56337317	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56355753	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7132451	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303909	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73085758	0.98[EUR][1000 genomes]
rs73085764	1.00[EUR][1000 genomes]
rs73085767	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73085788	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087603	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087605	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73087610	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087626	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087664	0.98[EUR][1000 genomes]
rs73087687	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73087696	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73087702	0.98[EUR][1000 genomes]
rs73089730	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089734	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089739	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089744	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73089748	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089752	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089753	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089761	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091736	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091741	0.98[EUR][1000 genomes]
rs73091745	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7311778	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74084624	0.86[ASN][1000 genomes]
rs7960478	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968824	1.00[GIH][hapmap]
rs7980005	1.00[MEX][hapmap];0.94[TSI][hapmap]
rs842199	0.88[JPT][hapmap]
rs863580	0.88[JPT][hapmap]
rs9783422	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9783507	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9919711	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9919742	1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]

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	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44364600-44393200	Weak transcription	Small Intestine	intestine
3	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
4	chr12:44383600-44394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
6	chr12:44386800-44394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:44387400-44399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44387600-44399400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:44390000-44394400	Weak transcription	HepG2	liver
10	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus

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