Variant report

Variant	rs7596900
Chromosome Location	chr2:56538595-56538596
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10179704	0.85[AMR][1000 genomes]
rs13395732	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13396365	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13418444	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13421201	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13421464	1.00[EUR][1000 genomes]
rs13421898	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13428678	0.83[AMR][1000 genomes]
rs6545566	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6545567	0.85[AMR][1000 genomes]
rs6748952	0.85[AMR][1000 genomes]
rs73940651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940653	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940654	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7582740	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584607	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9808384	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9808577	0.85[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:9 , 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	chr2:56537400-56540400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:56537600-56540600	Weak transcription	Psoas Muscle	Psoas
7	chr2:56537800-56540600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:56537800-56541600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:56538400-56538600	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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