Variant report

Variant	rs62124613
Chromosome Location	chr2:20586227-20586228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10856798	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11096661	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11096662	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11675693	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11678068	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11683057	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11692468	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11692578	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11887662	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12472111	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12472980	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12475795	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17653822	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17670898	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2098293	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35133647	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58495411	0.87[AMR][1000 genomes]
rs62124611	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62124635	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72788926	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72788927	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20579400-20586400	Weak transcription	Osteobl	bone
2	chr2:20581200-20586600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:20581600-20586400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:20581600-20587400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:20581600-20601000	Weak transcription	Right Atrium	heart
6	chr2:20581800-20586400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:20582800-20586400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:20583400-20587200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:20583600-20587200	Weak transcription	NHEK	skin
10	chr2:20584600-20586400	Enhancers	Small Intestine	intestine
11	chr2:20585000-20586600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:20585400-20586600	Enhancers	Colonic Mucosa	Colon
13	chr2:20585400-20586600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:20585400-20587200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:20585600-20586400	Enhancers	Placenta	Placenta
16	chr2:20585600-20586600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:20585800-20587200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:20585800-20593800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:20586000-20586400	Enhancers	NHDF-Ad	bronchial
20	chr2:20586000-20586800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:20586200-20586400	Enhancers	A549	lung
22	chr2:20586200-20586600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:20586200-20586600	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:20586200-20586800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:20586200-20586800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:20586200-20586800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:20586200-20586800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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