Variant report

Variant	rs2730713
Chromosome Location	chr12:119206584-119206585
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]
rs2649967	1.00[AMR][1000 genomes]
rs2649968	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2649969	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2698047	1.00[AMR][1000 genomes]
rs2698050	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2698051	0.83[ASN][1000 genomes]
rs2698053	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2730428	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2730429	0.83[ASN][1000 genomes]
rs2730708	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2730714	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2730740	0.96[AMR][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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1039515	chr12:119085196-119218918	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045363	chr12:119091734-119219659	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv519756	chr12:119092357-119227242	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119201400-119211400	Weak transcription	Fetal Brain Female	brain
2	chr12:119201600-119207000	Weak transcription	Fetal Brain Male	brain

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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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