Variant report

Variant	rs62191402
Chromosome Location	chr2:182330021-182330022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10203703	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10209150	1.00[EUR][1000 genomes]
rs62191395	1.00[EUR][1000 genomes]
rs62191396	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62191398	1.00[EUR][1000 genomes]
rs62191400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62191401	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62191403	1.00[EUR][1000 genomes]
rs62191404	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182322200-182330800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr2:182323400-182330400	Weak transcription	HMEC	breast
3	chr2:182323400-182332600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:182324400-182410400	Weak transcription	NHLF	lung
5	chr2:182324600-182330600	Weak transcription	NH-A	brain
6	chr2:182324600-182336400	Weak transcription	Small Intestine	intestine
7	chr2:182324600-182337600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:182324600-182340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:182324600-182360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:182324800-182330200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:182324800-182330400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:182326200-182337800	Weak transcription	Spleen	Spleen
13	chr2:182326400-182333400	Genic enhancers	Primary B cells from peripheral blood	blood
14	chr2:182326600-182332600	Weak transcription	HSMMtube	muscle
15	chr2:182327000-182334000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:182327200-182330400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr2:182327200-182333400	Genic enhancers	Primary B cells from cord blood	blood
18	chr2:182327400-182334000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:182327800-182330800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:182328000-182346400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:182328200-182330800	Genic enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:182328200-182337800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:182328400-182330200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:182328400-182330400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:182328400-182331000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:182328600-182330200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:182328800-182334000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:182329000-182330400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:182329000-182330400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:182329000-182332000	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr2:182329400-182330600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:182329400-182333000	Genic enhancers	Fetal Thymus	thymus
33	chr2:182329600-182330400	Active TSS	GM12878-XiMat	blood
34	chr2:182329600-182331600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:182329600-182331800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:182329600-182332200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:182329800-182330200	Flanking Active TSS	Thymus	Thymus
38	chr2:182329800-182330800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
39	chr2:182329800-182330800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:182330000-182330200	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr2:182330000-182330400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:182330000-182331000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:182330000-182331200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr2:182330000-182331400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:182330000-182331400	Enhancers	NHDF-Ad	bronchial
46	chr2:182330000-182335400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:182330000-182390200	Weak transcription	Rectal Mucosa Donor 31	rectum

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