Variant report

Variant	rs2051058
Chromosome Location	chr19:44723851-44723852
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10409155	0.83[ASN][1000 genomes]
rs10417451	0.81[ASN][1000 genomes]
rs10775542	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11666199	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11667521	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11670157	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11671074	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12459795	0.94[ASN][1000 genomes]
rs12460431	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12461251	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12462557	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12462723	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12609635	0.89[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12972550	0.83[AMR][1000 genomes]
rs12972784	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12975315	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12975546	0.88[AMR][1000 genomes]
rs12980565	0.88[AMR][1000 genomes]
rs12981298	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2051059	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2125578	0.88[AMR][1000 genomes]
rs2125579	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]
rs2279073	0.84[AMR][1000 genomes]
rs2356727	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2356752	0.86[ASN][1000 genomes]
rs4592768	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4802209	0.81[ASN][1000 genomes]
rs4802210	0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4802217	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4802218	0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4803684	0.81[ASN][1000 genomes]
rs4803694	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62117771	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6509145	0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6509150	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67711424	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7248054	0.90[ASN][1000 genomes]
rs7251134	0.85[CEU][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap]
rs7253196	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7256402	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs733265	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7508523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8101032	0.88[AMR][1000 genomes]
rs8103838	0.82[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs8105073	0.86[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8105479	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs8106766	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8108934	0.92[ASN][1000 genomes]
rs8109462	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8109706	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9646642	0.88[AMR][1000 genomes]
rs9646643	0.88[AMR][1000 genomes]
rs9676368	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs984117	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3387904	chr19:44723012-44726710	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2051058	AKT1S1	cis	cerebellum	SCAN
rs2051058	FPR1	cis	cerebellum	SCAN
rs2051058	PTOV1	cis	parietal	SCAN
rs2051058	ZNF233	cis	lymphoblastoid	seeQTL
rs2051058	SIX5	cis	cerebellum	SCAN
rs2051058	GNG8	cis	parietal	SCAN
rs2051058	MYPOP	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44717400-44739000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44717600-44725000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:44717600-44725200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:44717600-44730200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:44717600-44739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:44717800-44731600	Weak transcription	HSMMtube	muscle
7	chr19:44717800-44732200	Weak transcription	Stomach Mucosa	stomach
8	chr19:44718000-44725000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:44718200-44732400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:44718200-44732400	Weak transcription	K562	blood
11	chr19:44718200-44732600	Weak transcription	HepG2	liver
12	chr19:44718200-44732800	Weak transcription	HMEC	breast
13	chr19:44718200-44738800	Weak transcription	Hela-S3	cervix
14	chr19:44718400-44732400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:44718400-44736400	Weak transcription	HUVEC	blood vessel
16	chr19:44718600-44724800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:44718800-44724000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:44718800-44724000	ZNF genes & repeats	Liver	Liver
19	chr19:44718800-44724000	Strong transcription	Fetal Intestine Large	intestine
20	chr19:44718800-44725000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:44718800-44725000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:44718800-44725600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:44719000-44725000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:44719600-44725200	Strong transcription	Dnd41	blood
25	chr19:44721000-44724000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:44722000-44726000	Weak transcription	Psoas Muscle	Psoas
27	chr19:44722000-44730000	Weak transcription	Gastric	stomach
28	chr19:44722000-44730200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:44722000-44730800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:44722000-44732000	Weak transcription	Colonic Mucosa	Colon
31	chr19:44722000-44732400	Weak transcription	Fetal Heart	heart
32	chr19:44722200-44725200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr19:44722200-44731000	Weak transcription	NHDF-Ad	bronchial
34	chr19:44722400-44731800	Weak transcription	Primary B cells from cord blood	blood
35	chr19:44722800-44732000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:44723200-44731200	Weak transcription	Fetal Kidney	kidney
37	chr19:44723200-44732400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr19:44723400-44725000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr19:44723400-44725800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr19:44723400-44729600	Weak transcription	Fetal Stomach	stomach
41	chr19:44723400-44730000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:44723400-44730000	Weak transcription	Fetal Intestine Small	intestine
43	chr19:44723400-44730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:44723400-44730200	Weak transcription	Aorta	Aorta
45	chr19:44723400-44730200	Weak transcription	Pancreas	Pancrea
46	chr19:44723400-44731600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr19:44723400-44731800	Weak transcription	Left Ventricle	heart
48	chr19:44723400-44731800	Weak transcription	Right Ventricle	heart
49	chr19:44723600-44724400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:44723600-44725400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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