Variant report

Variant	rs2102011
Chromosome Location	chr4:54653620-54653621
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1013508	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1013509	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11133287	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11721806	0.90[ASN][1000 genomes]
rs11723162	0.86[ASN][1000 genomes]
rs11731952	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11734520	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12646885	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1498815	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1498816	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1498829	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1874915	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412491	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2412492	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2412496	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2412498	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2412500	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2616432	0.82[EUR][1000 genomes]
rs4495107	0.89[ASN][1000 genomes]
rs4501282	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4561980	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4864821	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56061807	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60681996	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62297730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62297732	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67780867	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6819547	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6819611	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6827313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6827952	0.85[ASN][1000 genomes]
rs6834410	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6837405	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6837817	0.93[ASN][1000 genomes]
rs6842213	0.92[ASN][1000 genomes]
rs6842407	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6843127	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6845180	0.86[ASN][1000 genomes]
rs6845286	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6846594	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6850939	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6854881	0.87[ASN][1000 genomes]
rs6858638	0.89[ASN][1000 genomes]
rs7686706	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7688892	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv879016	chr4:54638218-54710952	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv19126	chr4:54653249-54709054	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54648600-54655600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:54650600-54654600	Enhancers	NHDF-Ad	bronchial
3	chr4:54651000-54654200	Enhancers	Fetal Stomach	stomach
4	chr4:54651400-54654400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:54651400-54654600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:54651800-54653800	Enhancers	NHLF	lung
7	chr4:54651800-54654200	Enhancers	Placenta	Placenta
8	chr4:54652400-54653800	Enhancers	HSMMtube	muscle
9	chr4:54652400-54654400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr4:54652600-54654200	Enhancers	Colon Smooth Muscle	Colon
11	chr4:54653000-54653800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:54653200-54655200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:54653400-54654400	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:54653400-54654400	Weak transcription	Lung	lung
15	chr4:54653400-54655200	Weak transcription	Fetal Kidney	kidney
16	chr4:54653600-54657400	Weak transcription	Osteobl	bone
17	chr4:54653600-54659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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