Variant report

Variant	rs12720765
Chromosome Location	chr2:21252716-21252717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12714225	1.00[AFR][1000 genomes]
rs12714239	0.84[AFR][1000 genomes]
rs12720787	0.91[AFR][1000 genomes]
rs12720798	0.84[AFR][1000 genomes]
rs12720853	1.00[AFR][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21234800-21262200	Weak transcription	Ovary	ovary
2	chr2:21235000-21261800	Strong transcription	Fetal Intestine Large	intestine
3	chr2:21247600-21254000	Genic enhancers	HepG2	liver
4	chr2:21250600-21252800	Strong transcription	Aorta	Aorta
5	chr2:21251400-21254000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:21252000-21256200	Weak transcription	Left Ventricle	heart
7	chr2:21252400-21254200	Genic enhancers	Liver	Liver
8	chr2:21252600-21254400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:21252600-21255200	Weak transcription	Duodenum Mucosa	Duodenum

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

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