Variant report

Variant	rs9919742
Chromosome Location	chr12:44428853-44428854
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10880616	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs10880617	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs10880618	1.00[JPT][hapmap]
rs11182302	1.00[CHB][hapmap]
rs11182344	1.00[CHD][hapmap]
rs11182360	1.00[CHB][hapmap]
rs11182369	1.00[CHB][hapmap]
rs11182373	1.00[CHB][hapmap]
rs11182375	1.00[ASN][1000 genomes]
rs11182378	1.00[CHB][hapmap]
rs11182381	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11182384	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182385	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182387	1.00[CHB][hapmap]
rs11182390	1.00[CHB][hapmap]
rs11182391	1.00[CHB][hapmap]
rs11182396	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182399	1.00[CHB][hapmap]
rs11182402	1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes]
rs11182404	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182405	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12099769	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12228693	1.00[CHB][hapmap]
rs12230287	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12231403	1.00[CHB][hapmap]
rs12231978	1.00[CHB][hapmap]
rs12296857	1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes]
rs12301507	1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs1532218	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1565620	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1701083	1.00[JPT][hapmap]
rs17093973	1.00[CEU][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17093993	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17094007	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094013	1.00[JPT][hapmap]
rs17121301	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1976211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2407789	0.89[TSI][hapmap]
rs2407791	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3929354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55641600	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55657021	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55756710	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55773976	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55834309	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55917469	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56011342	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56081380	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56114967	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56122564	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56198335	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56227915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56337317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56355753	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582495	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7132451	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7136217	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]
rs7303909	1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73085758	0.95[EUR][1000 genomes]
rs73085764	0.98[EUR][1000 genomes]
rs73085767	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73085788	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73087603	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73087605	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73087610	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73087626	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73087664	1.00[EUR][1000 genomes]
rs73087684	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73087687	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087696	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087700	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73087702	1.00[EUR][1000 genomes]
rs73089723	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73089727	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73089730	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089734	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089739	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089744	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089748	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089752	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089753	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089761	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091736	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091741	1.00[EUR][1000 genomes]
rs73091745	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311778	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7959226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7960478	1.00[CEU][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7980005	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs842194	1.00[JPT][hapmap]
rs9783422	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9783507	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9919676	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9919711	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44402000-44432200	Weak transcription	Aorta	Aorta
3	chr12:44422200-44437800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:44423200-44434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:44423400-44430800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:44423400-44431400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:44423400-44447000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:44425200-44429400	Weak transcription	Fetal Heart	heart
9	chr12:44426000-44430800	Weak transcription	Pancreas	Pancrea
10	chr12:44427000-44432200	Weak transcription	Left Ventricle	heart
11	chr12:44427800-44430800	Weak transcription	Fetal Intestine Small	intestine
12	chr12:44428600-44429000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:44428600-44429000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:44428600-44429000	Enhancers	Psoas Muscle	Psoas
15	chr12:44428600-44429000	Enhancers	HMEC	breast
16	chr12:44428600-44429000	Enhancers	NHEK	skin

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