Variant report

Variant	rs62124612
Chromosome Location	chr2:20585277-20585278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10209568	0.86[ASN][1000 genomes]
rs1476941	0.89[ASN][1000 genomes]
rs343142	0.81[ASN][1000 genomes]
rs343144	0.83[ASN][1000 genomes]
rs343147	0.82[ASN][1000 genomes]
rs343152	0.83[ASN][1000 genomes]
rs343161	0.85[ASN][1000 genomes]
rs4666386	0.89[ASN][1000 genomes]
rs4666387	0.89[ASN][1000 genomes]
rs6531236	0.81[AFR][1000 genomes];0.89[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	chr2:20579200-20585400	Weak transcription	Colonic Mucosa	Colon
2	chr2:20579400-20586000	Weak transcription	NHDF-Ad	bronchial
3	chr2:20579400-20586200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:20579400-20586200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:20579400-20586400	Weak transcription	Osteobl	bone
6	chr2:20581200-20586200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:20581200-20586600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:20581400-20585400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:20581600-20586200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:20581600-20586400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:20581600-20587400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:20581600-20601000	Weak transcription	Right Atrium	heart
13	chr2:20581800-20586400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:20582600-20586000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:20582800-20586400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:20583200-20586000	Weak transcription	A549	lung
17	chr2:20583200-20586200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:20583400-20585600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:20583400-20587200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:20583600-20587200	Weak transcription	NHEK	skin
21	chr2:20584000-20585400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:20584200-20585600	Enhancers	Fetal Intestine Small	intestine
23	chr2:20584400-20585800	Enhancers	Duodenum Mucosa	Duodenum
24	chr2:20584600-20585400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:20584600-20586400	Enhancers	Small Intestine	intestine
26	chr2:20585000-20586600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:20585200-20585600	Weak transcription	Placenta	Placenta

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