Variant report

Variant	rs58490212
Chromosome Location	chr19:38809522-38809523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38808796..38810665-chr19:38878393..38880605,3	MCF-7	breast:
2	chr19:38805479..38807784-chr19:38808635..38810282,2	K562	blood:
3	chr19:38753833..38757251-chr19:38808796..38812283,9	MCF-7	breast:
4	chr19:38745470..38748025-chr19:38806544..38809528,4	K562	blood:

Variant related genes	Relation type
ENSG00000167642	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000167645	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10153497	1.00[AMR][1000 genomes]
rs11880285	1.00[AMR][1000 genomes]
rs11881714	1.00[AMR][1000 genomes]
rs2286548	1.00[AMR][1000 genomes]
rs2302185	1.00[AMR][1000 genomes]
rs45589333	1.00[AMR][1000 genomes]
rs57249964	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57347571	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57361474	1.00[AMR][1000 genomes]
rs57874113	1.00[AFR][1000 genomes]
rs58247981	1.00[AMR][1000 genomes]
rs58591078	1.00[AMR][1000 genomes]
rs59047386	1.00[AMR][1000 genomes]
rs59776537	1.00[AMR][1000 genomes]
rs59845491	1.00[AMR][1000 genomes]
rs60068553	1.00[AMR][1000 genomes]
rs60491875	1.00[AMR][1000 genomes]
rs61648033	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv960928	chr19:38790012-38822380	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38806400-38810200	Enhancers	Fetal Heart	heart
2	chr19:38807000-38809800	Weak transcription	Gastric	stomach
3	chr19:38807000-38809800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:38807000-38810000	Weak transcription	HSMMtube	muscle
5	chr19:38807200-38809600	Weak transcription	Pancreas	Pancrea
6	chr19:38807200-38809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:38807200-38809800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr19:38807200-38809800	Weak transcription	Aorta	Aorta
9	chr19:38807200-38809800	Weak transcription	Small Intestine	intestine
10	chr19:38807200-38809800	Enhancers	HUVEC	blood vessel
11	chr19:38807200-38809800	Weak transcription	Osteobl	bone
12	chr19:38807200-38810000	Weak transcription	Ovary	ovary
13	chr19:38807400-38809600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr19:38807400-38809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:38807400-38809800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:38807400-38809800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:38807400-38809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:38807400-38809800	Weak transcription	Brain Angular Gyrus	brain
19	chr19:38807400-38809800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:38807400-38809800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:38807600-38810000	Weak transcription	Brain Substantia Nigra	brain
22	chr19:38807800-38809600	Weak transcription	Brain Anterior Caudate	brain
23	chr19:38807800-38809600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:38808000-38809600	Weak transcription	Brain Hippocampus Middle	brain
25	chr19:38808000-38809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:38808000-38809800	Weak transcription	Lung	lung
27	chr19:38808000-38810000	Weak transcription	Psoas Muscle	Psoas
28	chr19:38808000-38810200	Enhancers	Primary hematopoietic stem cells	blood
29	chr19:38808200-38809600	Weak transcription	Colonic Mucosa	Colon
30	chr19:38808200-38809800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr19:38808200-38809800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr19:38808200-38809800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr19:38808200-38810000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr19:38808200-38810000	Enhancers	Primary B cells from peripheral blood	blood
35	chr19:38808200-38810000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr19:38808200-38810000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr19:38808200-38810000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:38808200-38810000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:38808400-38809600	Weak transcription	Primary T cells from cord blood	blood
40	chr19:38808400-38809800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:38808400-38809800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr19:38808400-38809800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:38808400-38809800	Weak transcription	Adipose Nuclei	Adipose
44	chr19:38808400-38810400	Enhancers	K562	blood
45	chr19:38808600-38809600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:38808600-38809800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr19:38808800-38809800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:38809000-38809800	Enhancers	Fetal Lung	lung
49	chr19:38809000-38810000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr19:38809000-38810000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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