Variant report

Variant	rs11721806
Chromosome Location	chr4:54634260-54634261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1013508	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1013509	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11133287	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11723162	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11731952	0.90[ASN][1000 genomes]
rs11734520	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12646885	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1498815	0.91[ASN][1000 genomes]
rs1498816	0.90[ASN][1000 genomes]
rs1498829	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874915	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2102011	0.90[ASN][1000 genomes]
rs2412491	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412492	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412496	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2412498	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2412500	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4495107	0.87[ASN][1000 genomes]
rs4501282	0.92[ASN][1000 genomes]
rs4561980	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4864821	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56061807	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60681996	0.91[ASN][1000 genomes]
rs62297730	0.90[ASN][1000 genomes]
rs62297732	0.90[ASN][1000 genomes]
rs67780867	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6819547	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6819611	0.92[ASN][1000 genomes]
rs6827313	0.92[ASN][1000 genomes]
rs6827952	0.89[ASN][1000 genomes]
rs6834410	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6837405	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6837817	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6842213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6842407	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6843127	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6845180	0.90[ASN][1000 genomes]
rs6845286	0.94[ASN][1000 genomes]
rs6846594	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6850939	0.91[ASN][1000 genomes]
rs6854881	0.94[ASN][1000 genomes]
rs6858638	0.87[ASN][1000 genomes]
rs7686706	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7688892	0.90[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	nsv879015	chr4:54596466-54665559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv527672	chr4:54626228-54637201	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54629200-54634400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:54630800-54635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:54630800-54635800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:54631000-54635800	Enhancers	Osteobl	bone
5	chr4:54631600-54636200	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:54631800-54635800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:54631800-54635800	Enhancers	NHDF-Ad	bronchial
8	chr4:54631800-54637200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:54632000-54634600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:54632000-54635000	Weak transcription	Fetal Stomach	stomach
11	chr4:54633000-54636000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:54633400-54643200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:54634000-54635000	Weak transcription	NHLF	lung
14	chr4:54634200-54634800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:54634200-54635000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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