Variant report

Variant	rs6727119
Chromosome Location	chr2:59522795-59522796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12053103	0.84[EUR][1000 genomes]
rs1558596	0.85[EUR][1000 genomes]
rs17050031	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36164224	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62148582	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6713914	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586283	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7588177	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834170	chr2:59436676-59604794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv582099	chr2:59494725-59563744	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:59522000-59523600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:59522000-59524200	Enhancers	Fetal Heart	heart
3	chr2:59522200-59523200	Enhancers	Colon Smooth Muscle	Colon
4	chr2:59522200-59524400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:59522400-59523000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:59522400-59523800	Enhancers	Fetal Lung	lung
7	chr2:59522400-59525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:59522600-59523600	Enhancers	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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