Variant report

Variant	rs8109462
Chromosome Location	chr19:44784004-44784005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10423306	0.80[EUR][1000 genomes]
rs10425945	0.85[CEU][hapmap]
rs10775542	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1107064	0.82[JPT][hapmap]
rs11666199	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11667521	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11671074	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12459795	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12460431	0.84[AMR][1000 genomes]
rs12461251	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12462557	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12462723	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12609635	0.82[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs12972784	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12975315	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12975546	1.00[CEU][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12980565	1.00[CEU][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2014501	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2051058	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2051059	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2125578	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2125579	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2168989	0.85[CEU][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap]
rs2232801	0.85[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap]
rs2279072	0.89[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs2279073	1.00[CEU][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2356727	0.82[AMR][1000 genomes]
rs4592768	0.85[AMR][1000 genomes]
rs4802210	0.86[JPT][hapmap]
rs4802217	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4802218	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803694	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6509145	0.86[JPT][hapmap]
rs6509150	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7251682	0.89[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap]
rs7252577	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7253196	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7253533	0.85[CEU][hapmap]
rs7260304	0.89[CEU][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap]
rs7508523	0.86[AMR][1000 genomes]
rs8101032	1.00[CEU][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8102037	0.80[EUR][1000 genomes]
rs8103838	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs8105073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8105479	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs8106766	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8108934	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8109706	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9304640	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs9646642	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9646643	1.00[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8109462	RUVBL2	cis	parietal	SCAN
rs8109462	AKT1S1	cis	cerebellum	SCAN
rs8109462	ZNF233	cis	multi-tissue	Pritchard
rs8109462	ZNF528	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44775000-44791200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44777000-44807000	ZNF genes & repeats	Liver	Liver
3	chr19:44778600-44787000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:44778800-44784800	Weak transcription	Right Ventricle	heart
5	chr19:44778800-44791000	Weak transcription	Fetal Heart	heart
6	chr19:44778800-44791000	Weak transcription	HSMMtube	muscle
7	chr19:44778800-44791400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:44779200-44789200	Weak transcription	Brain Angular Gyrus	brain
9	chr19:44779400-44791000	Weak transcription	Dnd41	blood
10	chr19:44780600-44784600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:44781400-44784600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:44781800-44801400	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:44782000-44787000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:44782600-44786600	Weak transcription	HMEC	breast
15	chr19:44782800-44791400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:44782800-44792000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:44783000-44786600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:44783200-44791400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:44783200-44804400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:44783600-44785000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:44783600-44785000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:44783600-44785000	Weak transcription	NHEK	skin
23	chr19:44783600-44787000	Weak transcription	NHDF-Ad	bronchial
24	chr19:44784000-44784200	ZNF genes & repeats	Esophagus	oesophagus

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