Variant report

Variant	rs60227263
Chromosome Location	chr12:44711249-44711250
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]
rs11182465	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182469	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11182471	0.85[AMR][1000 genomes]
rs11182472	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12308857	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315779	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55986964	0.86[AFR][1000 genomes]
rs56380149	0.85[AMR][1000 genomes]
rs57642348	1.00[AMR][1000 genomes]
rs57855837	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs717488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084469	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084486	0.86[AFR][1000 genomes];1.00[AMR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44699000-44713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
4	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
5	chr12:44703400-44711800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:44706800-44711800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44709200-44743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44710800-44711400	Enhancers	Hela-S3	cervix

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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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