Variant report

Variant	rs73085767
Chromosome Location	chr12:44375348-44375349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1532218	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17093973	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17093993	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094007	0.98[EUR][1000 genomes]
rs17121301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2407791	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55641600	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55657021	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55773976	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55834309	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55917469	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56011342	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56081380	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56114967	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56122564	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56227915	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56337317	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56355753	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7132451	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136217	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303909	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73085758	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73085764	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73085788	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087603	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087605	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73087610	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087626	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087664	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73087687	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73087696	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73087702	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089730	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089734	0.98[EUR][1000 genomes]
rs73089739	0.95[EUR][1000 genomes]
rs73089744	0.95[EUR][1000 genomes]
rs73089748	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089752	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089753	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089761	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091736	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091741	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091745	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7311778	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7960478	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9783422	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9783507	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9919711	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9919742	0.80[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:11 , 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	chr12:44364600-44393200	Weak transcription	Small Intestine	intestine
5	chr12:44364800-44377000	Weak transcription	Left Ventricle	heart
6	chr12:44366000-44375600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:44372000-44375600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:44373000-44375600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:44374800-44375800	Enhancers	HepG2	liver
10	chr12:44374800-44377400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:44375000-44375600	Enhancers	Stomach Mucosa	stomach

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