Variant report

Variant	rs2125579
Chromosome Location	chr19:44792701-44792702
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44791055..44792864-chr19:44796780..44798588,2	K562	blood:
2	chr19:44788129..44789786-chr19:44790897..44793362,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10405450	0.80[EUR][1000 genomes]
rs10410086	0.80[EUR][1000 genomes]
rs10423306	0.81[EUR][1000 genomes]
rs10425945	0.85[CEU][hapmap]
rs10775542	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1107064	0.82[JPT][hapmap]
rs11666199	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11667521	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11671074	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12459795	0.84[EUR][1000 genomes]
rs12460431	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12461251	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12462557	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12462723	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12609635	0.82[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap]
rs12972784	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12975315	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12975546	1.00[CEU][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12980565	1.00[CEU][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2014501	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2051058	0.86[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2051059	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2125578	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2168989	0.85[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap]
rs2232801	0.85[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap]
rs2279072	0.89[CEU][hapmap];0.90[GIH][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs2279073	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4592768	0.82[AMR][1000 genomes]
rs4802210	0.86[JPT][hapmap]
rs4802217	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4802218	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803694	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6509145	0.86[JPT][hapmap]
rs6509150	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7251682	0.89[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs7252577	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7253196	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7253533	0.85[CEU][hapmap]
rs7260304	0.89[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap]
rs7508523	0.83[AMR][1000 genomes]
rs8101032	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8102037	0.81[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];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8105479	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs8106766	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8108934	0.81[EUR][1000 genomes]
rs8109462	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8109706	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9304640	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs9646642	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9646643	1.00[CEU][hapmap];0.89[GIH][hapmap];0.84[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9676368	0.81[AMR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2125579	RUVBL2	cis	parietal	SCAN
rs2125579	ZNF528	cis	parietal	SCAN
rs2125579	ZNF233	cis	multi-tissue	Pritchard
rs2125579	AKT1S1	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44777000-44807000	ZNF genes & repeats	Liver	Liver
2	chr19:44781800-44801400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:44783200-44804400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:44785200-44801600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:44788000-44799800	Weak transcription	HepG2	liver
6	chr19:44788200-44801600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
7	chr19:44788800-44795400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
8	chr19:44790000-44793800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr19:44790000-44795200	ZNF genes & repeats	Fetal Muscle Leg	muscle
10	chr19:44790000-44801600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
11	chr19:44790400-44794800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:44790400-44806800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:44790400-44808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:44790600-44795400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:44790600-44801200	Weak transcription	NHLF	lung
16	chr19:44790800-44793600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:44790800-44795000	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr19:44790800-44797400	ZNF genes & repeats	Fetal Lung	lung
19	chr19:44790800-44798400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:44791000-44792800	ZNF genes & repeats	HSMM	muscle
21	chr19:44791000-44794000	Strong transcription	Brain Anterior Caudate	brain
22	chr19:44791000-44794400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:44791000-44794400	ZNF genes & repeats	Brain Germinal Matrix	brain
24	chr19:44791000-44794600	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr19:44791000-44794800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:44791000-44795000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr19:44791000-44795000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr19:44791000-44795000	ZNF genes & repeats	Left Ventricle	heart
29	chr19:44791000-44795400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
30	chr19:44791000-44795400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:44791000-44795400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:44791000-44799600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr19:44791000-44800200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:44791200-44792800	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr19:44791200-44792800	ZNF genes & repeats	Pancreas	Pancrea
36	chr19:44791200-44793200	ZNF genes & repeats	A549	lung
37	chr19:44791200-44793400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr19:44791200-44793400	ZNF genes & repeats	Psoas Muscle	Psoas
39	chr19:44791200-44793600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:44791200-44793800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr19:44791200-44794200	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr19:44791200-44794600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:44791200-44794600	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr19:44791200-44794800	Strong transcription	Placenta	Placenta
45	chr19:44791200-44794800	Strong transcription	Right Ventricle	heart
46	chr19:44791200-44795000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:44791200-44795000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:44791200-44795000	ZNF genes & repeats	Aorta	Aorta
49	chr19:44791200-44795000	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr19:44791200-44795200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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