Variant report

Variant	rs3949863
Chromosome Location	chr20:10975671-10975672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1409864	0.88[AFR][1000 genomes]
rs6074217	0.84[EUR][1000 genomes]
rs6074221	0.83[EUR][1000 genomes]
rs6077995	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6077997	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6131139	0.97[ASN][1000 genomes]
rs6134093	0.95[ASN][1000 genomes]
rs6134098	0.92[ASN][1000 genomes]
rs6134101	0.91[ASN][1000 genomes]
rs62185670	0.83[EUR][1000 genomes]
rs7262797	0.81[EUR][1000 genomes]
rs73896494	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2758513	chr20:10892138-11116725	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2758781	chr20:10892138-11116725	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10963800-10982600	Weak transcription	Right Atrium	heart
2	chr20:10970000-10980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:10971400-10976800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr20:10971600-10976000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:10975000-10975800	Enhancers	Pancreas	Pancrea
6	chr20:10975600-10975800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr20:10975600-10976000	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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