Variant report

Variant	rs62193377
Chromosome Location	chr2:231295356-231295357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10178594	0.88[ASN][1000 genomes]
rs10182438	0.87[ASN][1000 genomes]
rs10191957	0.91[ASN][1000 genomes]
rs10205096	0.91[ASN][1000 genomes]
rs1156156	0.82[ASN][1000 genomes]
rs11675846	0.87[ASN][1000 genomes]
rs13398034	0.94[ASN][1000 genomes]
rs13406769	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13411586	0.92[ASN][1000 genomes]
rs1427283	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559987	0.89[ASN][1000 genomes]
rs3754945	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58742879	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58941251	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60304451	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62192251	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62193374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193375	0.98[ASN][1000 genomes]
rs62193379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193406	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193407	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193410	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9678342	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:231284200-231301000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:231284200-231304000	Weak transcription	NH-A	brain
4	chr2:231284600-231306200	Weak transcription	HMEC	breast
5	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
6	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
7	chr2:231289000-231299400	Weak transcription	NHLF	lung
8	chr2:231289000-231309200	Weak transcription	Aorta	Aorta
9	chr2:231289600-231295400	Weak transcription	Small Intestine	intestine
10	chr2:231291200-231299600	Weak transcription	NHEK	skin
11	chr2:231292200-231295400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:231292400-231296200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr2:231292400-231298400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:231292600-231298800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:231292800-231295800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr2:231293000-231295400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:231293400-231295400	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:231293400-231295800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
19	chr2:231293800-231295400	Strong transcription	Osteobl	bone
20	chr2:231294000-231295600	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr2:231294000-231295600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:231294000-231299200	Weak transcription	NHDF-Ad	bronchial
23	chr2:231294000-231300400	Weak transcription	HUVEC	blood vessel
24	chr2:231294000-231301200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:231294200-231309600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:231294200-231311600	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:231294400-231295400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:231294400-231296200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:231294400-231296400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:231294600-231295800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:231294600-231296400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:231294600-231297400	Genic enhancers	Primary B cells from cord blood	blood
33	chr2:231294600-231298200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:231294600-231298400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:231294600-231299400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:231294800-231295400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:231294800-231295400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:231294800-231295400	ZNF genes & repeats	Esophagus	oesophagus
39	chr2:231294800-231295400	ZNF genes & repeats	Fetal Thymus	thymus
40	chr2:231294800-231295400	ZNF genes & repeats	HSMM	muscle
41	chr2:231294800-231295400	ZNF genes & repeats	K562	blood
42	chr2:231294800-231295600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:231294800-231295600	Strong transcription	Thymus	Thymus
44	chr2:231294800-231296000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:231294800-231296000	Genic enhancers	Left Ventricle	heart
46	chr2:231294800-231296000	Enhancers	Right Atrium	heart
47	chr2:231294800-231296200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:231294800-231296200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:231294800-231296200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:231294800-231296200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood

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