Variant report

Variant	rs62341463
Chromosome Location	chr4:148023130-148023131
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10519866	0.87[EUR][1000 genomes]
rs11929880	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932704	1.00[AMR][1000 genomes]
rs11934394	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935350	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935438	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11936420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940408	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941436	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941445	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941745	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942353	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942559	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942610	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11944039	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11945211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11945471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11945733	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946351	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11947471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022582	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022603	1.00[EUR][1000 genomes]
rs35044197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55693428	1.00[EUR][1000 genomes]
rs61415692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62341462	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62341464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62341465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62343683	1.00[EUR][1000 genomes]
rs62343687	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62343689	0.81[AFR][1000 genomes]
rs62343692	1.00[EUR][1000 genomes]
rs62343693	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62343695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62343696	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62343697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62343698	1.00[EUR][1000 genomes]
rs62343699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62343700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62343701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62343702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62343703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv880240	chr4:147905897-148032003	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1024629	chr4:147987351-148277008	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148020800-148024600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:148022600-148023400	Enhancers	Liver	Liver
3	chr4:148022600-148024200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:148022600-148024200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:148022600-148024400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:148022600-148024400	Enhancers	NHDF-Ad	bronchial
7	chr4:148022600-148024600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:148022800-148023200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:148022800-148023200	Enhancers	Fetal Lung	lung
10	chr4:148022800-148023400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:148022800-148024400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:148022800-148026400	Enhancers	NHLF	lung
13	chr4:148023000-148023200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:148023000-148023200	Enhancers	Left Ventricle	heart
15	chr4:148023000-148023200	Enhancers	Stomach Smooth Muscle	stomach
16	chr4:148023000-148023200	Enhancers	Osteobl	bone
17	chr4:148023000-148023600	Enhancers	NH-A	brain
18	chr4:148023000-148024400	Enhancers	HSMMtube	muscle
19	chr4:148023000-148024600	Weak transcription	Ovary	ovary

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