Variant report

Variant	rs7971501
Chromosome Location	chr12:43227358-43227359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11181705	0.95[AFR][1000 genomes]
rs11181706	0.95[AFR][1000 genomes]
rs11181707	0.95[AFR][1000 genomes]
rs11181708	0.95[AFR][1000 genomes]
rs11181709	0.95[AFR][1000 genomes]
rs11181710	0.91[AFR][1000 genomes]
rs11181711	0.95[AFR][1000 genomes]
rs12227222	0.95[AFR][1000 genomes]
rs12227245	0.95[AFR][1000 genomes]
rs12228951	0.95[AFR][1000 genomes]
rs7953978	0.95[AFR][1000 genomes]
rs7954442	0.95[AFR][1000 genomes]
rs7968380	1.00[AFR][1000 genomes]
rs7969690	0.95[AFR][1000 genomes]
rs7971029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980730	1.00[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv558749	chr12:43180190-43275097	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43220000-43243000	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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