Variant report

Variant	rs56855047
Chromosome Location	chr3:99040249-99040250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1383841	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1383843	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1383844	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1481519	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1585980	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16840977	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16841002	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16841011	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176819	0.82[ASN][1000 genomes]
rs56658302	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60094151	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60416957	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60692326	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6440531	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66744614	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6765606	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6768911	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6776746	0.87[EUR][1000 genomes]
rs6796250	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73138404	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73138477	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615723	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642331	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9818711	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530026	chr3:98837320-99340537	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv965360	chr3:99035758-99044695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99032000-99049200	Weak transcription	Aorta	Aorta
2	chr3:99036800-99040600	Enhancers	HUVEC	blood vessel
3	chr3:99038800-99040800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:99038800-99043600	Weak transcription	HSMMtube	muscle
5	chr3:99039600-99043600	Weak transcription	HSMM	muscle
6	chr3:99039600-99044200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:99040000-99040400	Enhancers	Colon Smooth Muscle	Colon
8	chr3:99040000-99044200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:99040200-99040600	Enhancers	Fetal Stomach	stomach
10	chr3:99040200-99049400	Weak transcription	NHDF-Ad	bronchial

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