Variant report

Variant	rs62142079
Chromosome Location	chr2:32178752-32178753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32177634..32180545-chr2:32234486..32237363,2	K562	blood:

Variant related genes	Relation type
ENSG00000162959	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10439444	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1272585	0.82[ASN][1000 genomes]
rs160797	0.86[ASN][1000 genomes]
rs1904489	0.86[ASN][1000 genomes]
rs41280625	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55730514	0.85[ASN][1000 genomes]
rs62142080	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6748621	0.81[ASN][1000 genomes]
rs9752651	0.86[AMR][1000 genomes];0.92[ASN][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS 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 miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
2	chr2:32116800-32182200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:32117000-32205200	Weak transcription	NH-A	brain
4	chr2:32119200-32181400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:32127400-32190200	Weak transcription	Lung	lung
6	chr2:32132400-32183000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:32136600-32188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:32137000-32189200	Weak transcription	Fetal Kidney	kidney
9	chr2:32145000-32183000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:32145200-32190800	Weak transcription	Pancreas	Pancrea
11	chr2:32146400-32183400	Weak transcription	Psoas Muscle	Psoas
12	chr2:32166800-32182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:32167200-32183000	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:32167200-32193200	Weak transcription	HSMM	muscle
15	chr2:32168000-32179400	Weak transcription	NHEK	skin
16	chr2:32168000-32180600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:32168200-32183000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:32168200-32185000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:32168200-32189600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:32168200-32194400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:32168200-32197400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:32168400-32180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:32168400-32186200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:32168400-32186400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:32168400-32189400	Weak transcription	Fetal Intestine Small	intestine
26	chr2:32168400-32193600	Weak transcription	Fetal Brain Female	brain
27	chr2:32168400-32194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:32168400-32202000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:32168400-32205200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:32168400-32205800	Weak transcription	Fetal Lung	lung
31	chr2:32168400-32205800	Weak transcription	Thymus	Thymus
32	chr2:32168400-32212200	Weak transcription	Esophagus	oesophagus
33	chr2:32168400-32233400	Weak transcription	Fetal Stomach	stomach
34	chr2:32168600-32179000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:32168600-32180800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:32168600-32181200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:32168600-32181400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:32168600-32187000	Weak transcription	Fetal Intestine Large	intestine
39	chr2:32168600-32187200	Weak transcription	Fetal Thymus	thymus
40	chr2:32168600-32193400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:32168800-32182400	Weak transcription	Adipose Nuclei	Adipose
42	chr2:32168800-32182800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:32168800-32190000	Weak transcription	Dnd41	blood
44	chr2:32168800-32193200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:32169000-32181200	Weak transcription	Primary B cells from cord blood	blood
46	chr2:32169000-32182400	Weak transcription	HMEC	breast
47	chr2:32169400-32180600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:32169600-32183000	Weak transcription	Small Intestine	intestine
49	chr2:32170800-32183000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:32170800-32185000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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