Variant report

Variant	rs73940654
Chromosome Location	chr2:56540455-56540456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10179704	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395732	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13396365	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13418444	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13421201	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13421464	1.00[EUR][1000 genomes]
rs13421898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62167337	0.87[AFR][1000 genomes]
rs6545566	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6545567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6748952	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73940651	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940653	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7582740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584607	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7596900	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7603700	0.85[AMR][1000 genomes]
rs9808384	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9808577	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv522006	chr2:56496589-56545845	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56527400-56540600	Weak transcription	Left Ventricle	heart
2	chr2:56527400-56547400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:56527600-56561000	Weak transcription	HSMM	muscle
4	chr2:56537000-56541200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:56537600-56540600	Weak transcription	Psoas Muscle	Psoas
6	chr2:56537800-56540600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:56537800-56541600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:56540000-56540800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:56540000-56540800	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:56540000-56540800	Weak transcription	Right Atrium	heart
11	chr2:56540000-56541400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:56540400-56542000	Enhancers	Fetal Intestine Large	intestine
13	chr2:56540400-56543400	Enhancers	Adipose Nuclei	Adipose

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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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