Variant report

Variant	rs12720804
Chromosome Location	chr2:21254997-21254998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12713843	1.00[CEU][hapmap]
rs12714221	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12714245	1.00[EUR][1000 genomes]
rs1800478	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	chr2:21252000-21256200	Weak transcription	Left Ventricle	heart
4	chr2:21252600-21255200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:21252800-21255200	Weak transcription	Aorta	Aorta
6	chr2:21254000-21256200	Strong transcription	Adipose Nuclei	Adipose
7	chr2:21254200-21255200	Strong transcription	Liver	Liver
8	chr2:21254400-21255000	Genic enhancers	HepG2	liver
9	chr2:21254400-21262000	Strong transcription	Fetal Intestine Small	intestine

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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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