Variant report

Variant	rs12988904
Chromosome Location	chr2:57303414-57303415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11125693	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11691347	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11694571	0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11886848	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1345942	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1424647	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1424649	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1559556	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17189361	0.96[CEU][hapmap];0.90[CHB][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17189459	0.92[CEU][hapmap]
rs1863047	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1863048	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34140847	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35068051	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35180076	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62160043	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs718351	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997255	chr2:57043023-57430709	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv998937	chr2:57059299-57357292	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv457963	chr2:57060131-57397423	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv582061	chr2:57060131-57397423	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv470466	chr2:57062513-57397423	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv2754380	chr2:57148349-57306249	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1008982	chr2:57193127-57321227	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv999898	chr2:57193127-57901238	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv535729	chr2:57193127-57901238	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1015047	chr2:57273988-57517387	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1007773	chr2:57280011-57341167	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2757801	chr2:57284531-57488396	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv2759053	chr2:57284531-57488396	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57302400-57304600	Enhancers	Muscle Satellite Cultured Cells	--

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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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