Variant report

Variant	rs17093973
Chromosome Location	chr12:44368026-44368027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11182385	0.89[TSI][hapmap]
rs11182405	0.83[TSI][hapmap]
rs1531402	0.83[TSI][hapmap]
rs1532218	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1565620	0.89[TSI][hapmap]
rs17093993	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094007	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];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	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56081380	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56114967	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	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136217	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303909	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][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	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087603	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087605	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73087610	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087626	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087664	0.98[EUR][1000 genomes]
rs73087687	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	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089739	0.84[AMR][1000 genomes];0.95[EUR][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	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7960478	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968824	1.00[GIH][hapmap]
rs7980005	0.94[TSI][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];0.94[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44343600-44376800	Weak transcription	Pancreas	Pancrea
2	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
3	chr12:44363800-44382400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44364600-44369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:44364600-44370000	Weak transcription	HMEC	breast
6	chr12:44364600-44393200	Weak transcription	Small Intestine	intestine
7	chr12:44364800-44377000	Weak transcription	Left Ventricle	heart
8	chr12:44366000-44375600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:44366200-44373400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:44366800-44368200	Enhancers	Fetal Heart	heart
11	chr12:44367800-44368800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:44368000-44368800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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