Variant report

Variant	rs2431992
Chromosome Location	chr19:37873139-37873140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1019494	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10419281	0.90[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10425719	0.91[JPT][hapmap]
rs11083420	0.84[ASN][1000 genomes]
rs11083423	0.80[ASN][1000 genomes]
rs11666708	0.91[ASN][1000 genomes]
rs12462487	0.85[ASN][1000 genomes]
rs12462546	0.85[AMR][1000 genomes]
rs12462708	0.82[ASN][1000 genomes]
rs1545755	0.95[JPT][hapmap]
rs185368	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs185369	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs1968251	0.90[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2385180	0.90[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2385181	0.91[ASN][1000 genomes]
rs256733	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs256735	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs256740	0.95[ASN][1000 genomes]
rs256744	0.95[ASN][1000 genomes]
rs320881	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs502546	0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs55755939	0.93[ASN][1000 genomes]
rs55926714	0.83[ASN][1000 genomes]
rs6508721	0.84[ASN][1000 genomes]
rs7254009	0.90[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs73025481	0.91[ASN][1000 genomes]
rs8109103	0.90[CHD][hapmap];0.95[JPT][hapmap]
rs862234	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1058788	chr19:37857748-37899157	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv579464	chr19:37858660-37881556	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv579465	chr19:37868552-37917692	ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37863800-37873200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr19:37864000-37882000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:37864000-37882000	ZNF genes & repeats	Liver	Liver
4	chr19:37864400-37880600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:37864400-37880800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:37864600-37873400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:37864600-37880600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
8	chr19:37864600-37890600	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:37865000-37875400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:37865000-37880600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr19:37865200-37874200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:37865200-37874600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:37865400-37880600	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr19:37865800-37875800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr19:37866000-37874200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr19:37867000-37878600	Weak transcription	Hela-S3	cervix
17	chr19:37868000-37880400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
18	chr19:37868000-37880800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:37868000-37881000	ZNF genes & repeats	A549	lung
20	chr19:37868000-37882000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:37868000-37882200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:37868000-37886600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:37868200-37875200	Strong transcription	Brain Cingulate Gyrus	brain
24	chr19:37868200-37875200	Strong transcription	Brain Germinal Matrix	brain
25	chr19:37868200-37881000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr19:37868200-37881600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr19:37868200-37882000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr19:37868400-37880000	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr19:37868800-37873600	Strong transcription	Fetal Muscle Leg	muscle
30	chr19:37869400-37876000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:37869400-37881600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr19:37869600-37877000	Strong transcription	Placenta	Placenta
33	chr19:37869600-37880800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:37869800-37874200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:37869800-37874400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:37869800-37881600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr19:37870000-37873400	Strong transcription	Fetal Stomach	stomach
38	chr19:37870000-37874200	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr19:37870000-37875600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr19:37870000-37880600	ZNF genes & repeats	Ovary	ovary
41	chr19:37870000-37881600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr19:37870000-37881800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:37870000-37882200	ZNF genes & repeats	Colon Smooth Muscle	Colon
44	chr19:37870600-37873200	ZNF genes & repeats	HepG2	liver
45	chr19:37870600-37873800	Strong transcription	Brain Substantia Nigra	brain
46	chr19:37870600-37874400	ZNF genes & repeats	Fetal Lung	lung
47	chr19:37870600-37875200	Strong transcription	Right Ventricle	heart
48	chr19:37870600-37875200	Strong transcription	Osteobl	bone
49	chr19:37870600-37877200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:37870600-37877400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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