Variant report

Variant	rs12316922
Chromosome Location	chr12:44513254-44513255
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11182425	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182427	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296789	0.83[AFR][1000 genomes]
rs12297184	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs12297528	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299149	0.83[AFR][1000 genomes]
rs12303013	0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304524	1.00[AMR][1000 genomes]
rs12305063	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306297	1.00[AMR][1000 genomes]
rs12309109	1.00[AMR][1000 genomes]
rs12311205	1.00[AMR][1000 genomes]
rs12311262	1.00[AMR][1000 genomes]
rs12312664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314835	1.00[AMR][1000 genomes]
rs12317358	0.82[ASW][hapmap]
rs12319132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377946	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.83[AFR][1000 genomes]
rs60006361	0.83[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	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44510800-44531400	Weak transcription	Psoas Muscle	Psoas
2	chr12:44511400-44521400	Weak transcription	Aorta	Aorta
3	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44511600-44521600	Weak transcription	HSMMtube	muscle
5	chr12:44512600-44513800	Enhancers	Fetal Brain Male	brain
6	chr12:44513200-44513400	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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