Variant report

Variant	rs12371940
Chromosome Location	chr12:44319060-44319061
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:15)

rs_ID	r²[population]
rs11182326	0.87[CEU][hapmap]
rs11182332	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs11182348	0.87[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182353	0.87[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182354	0.87[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182355	0.87[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182359	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11523601	1.00[AFR][1000 genomes]
rs12301015	0.87[CEU][hapmap]
rs12303804	0.87[CEU][hapmap]
rs4238092	0.87[CEU][hapmap]
rs73085705	0.81[AMR][1000 genomes]
rs73089764	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73100979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976722	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44307400-44324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44311400-44324600	Weak transcription	Left Ventricle	heart
3	chr12:44315200-44324200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44316000-44321200	Weak transcription	HSMMtube	muscle
5	chr12:44317400-44321200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:44317600-44321400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44317600-44325400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:44317800-44321600	Weak transcription	Fetal Stomach	stomach
9	chr12:44318400-44319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:44319000-44324200	Weak transcription	Aorta	Aorta
11	chr12:44319000-44325600	Weak transcription	Esophagus	oesophagus

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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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