Variant report

Variant	rs2051059
Chromosome Location	chr19:44724723-44724724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10405450	0.88[EUR][1000 genomes]
rs10409155	0.81[ASN][1000 genomes]
rs10410086	0.88[EUR][1000 genomes]
rs10417451	0.80[ASN][1000 genomes]
rs10423306	0.90[EUR][1000 genomes]
rs10425945	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs10775542	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1107064	0.85[JPT][hapmap]
rs11666199	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11667521	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11671074	0.83[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes]
rs12459795	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12460431	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12461251	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12462557	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12462723	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12609635	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12972784	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12975315	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12975546	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12980565	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2051058	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2125578	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2125579	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]
rs2168989	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs2232801	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2279072	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs2279073	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2356727	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2356752	0.85[ASN][1000 genomes]
rs4592768	0.89[AMR][1000 genomes]
rs4802209	0.80[ASN][1000 genomes]
rs4802210	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4802217	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4802218	0.95[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4803694	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62117771	0.91[ASN][1000 genomes]
rs6509145	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6509150	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7248054	0.89[ASN][1000 genomes]
rs7248114	0.85[EUR][1000 genomes]
rs7251682	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs7253196	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253533	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs7259916	0.82[EUR][1000 genomes]
rs7260304	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs7508523	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8101032	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8103838	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8105073	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8105479	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8106766	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8108934	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8109462	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8109706	0.88[AMR][1000 genomes]
rs9304640	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs9646642	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9646643	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][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	esv3387904	chr19:44723012-44726710	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3360325	chr19:44724182-44726195	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
3	esv3411350	chr19:44724605-44726483	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 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	chr19:44718800-44725000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:44718800-44725000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:44718800-44725600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:44719000-44725000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr19:44719600-44725200	Strong transcription	Dnd41	blood
22	chr19:44722000-44726000	Weak transcription	Psoas Muscle	Psoas
23	chr19:44722000-44730000	Weak transcription	Gastric	stomach
24	chr19:44722000-44730200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:44722000-44730800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:44722000-44732000	Weak transcription	Colonic Mucosa	Colon
27	chr19:44722000-44732400	Weak transcription	Fetal Heart	heart
28	chr19:44722200-44725200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:44722200-44731000	Weak transcription	NHDF-Ad	bronchial
30	chr19:44722400-44731800	Weak transcription	Primary B cells from cord blood	blood
31	chr19:44722800-44732000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:44723200-44731200	Weak transcription	Fetal Kidney	kidney
33	chr19:44723200-44732400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:44723400-44725000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:44723400-44725800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:44723400-44729600	Weak transcription	Fetal Stomach	stomach
37	chr19:44723400-44730000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:44723400-44730000	Weak transcription	Fetal Intestine Small	intestine
39	chr19:44723400-44730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:44723400-44730200	Weak transcription	Aorta	Aorta
41	chr19:44723400-44730200	Weak transcription	Pancreas	Pancrea
42	chr19:44723400-44731600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:44723400-44731800	Weak transcription	Left Ventricle	heart
44	chr19:44723400-44731800	Weak transcription	Right Ventricle	heart
45	chr19:44723600-44725400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:44723600-44725600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:44723600-44726000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:44723600-44729800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:44723600-44729800	Weak transcription	Brain Germinal Matrix	brain
50	chr19:44723600-44729800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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