Variant report

Variant	rs9919676
Chromosome Location	chr12:44426723-44426724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10736018	0.81[EUR][1000 genomes]
rs10785492	0.81[EUR][1000 genomes]
rs10880616	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10880617	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10880618	1.00[JPT][hapmap]
rs11182373	1.00[CHB][hapmap]
rs11182375	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182384	1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182385	1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182396	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs11182399	1.00[CHB][hapmap]
rs11182402	1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11182404	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182405	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099769	1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230287	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296857	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12301507	1.00[JPT][hapmap]
rs12313365	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1565620	1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1701083	1.00[JPT][hapmap]
rs17094013	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1976211	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407788	0.81[EUR][1000 genomes]
rs2407789	1.00[JPT][hapmap]
rs3929354	1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55756710	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56198335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56227915	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56337317	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6582494	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6582495	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73087684	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087700	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73091745	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7312422	0.81[EUR][1000 genomes]
rs7959226	1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980005	1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs842194	1.00[JPT][hapmap]
rs9919742	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][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:13 , 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	chr12:44424400-44428600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:44425200-44429400	Weak transcription	Fetal Heart	heart
10	chr12:44426000-44430800	Weak transcription	Pancreas	Pancrea
11	chr12:44426200-44427000	Strong transcription	Left Ventricle	heart
12	chr12:44426400-44428600	Weak transcription	HMEC	breast
13	chr12:44426400-44428600	Weak transcription	NHEK	skin

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