Variant report

Variant	rs12313072
Chromosome Location	chr12:44716901-44716902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11182460	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs11182464	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182465	0.86[YRI][hapmap]
rs11182468	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182471	0.81[YRI][hapmap]
rs12297701	1.00[AMR][1000 genomes]
rs12301186	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12305404	0.89[MKK][hapmap]
rs12308857	0.87[YRI][hapmap]
rs12312536	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313462	0.87[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322750	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs60037016	0.87[AFR][1000 genomes]
rs60810059	0.87[AFR][1000 genomes]
rs74084496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085152	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv520635	chr12:44707667-44720874	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
2	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
3	chr12:44709200-44743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44712400-44765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

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

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