Variant report

Variant	rs796246
Chromosome Location	chr2:211820423-211820424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1080927	0.82[EUR][1000 genomes]
rs12989482	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13006521	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1437369	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1657861	0.86[ASN][1000 genomes]
rs172769	0.85[ASN][1000 genomes]
rs2719962	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4254450	0.84[ASN][1000 genomes]
rs796232	0.90[ASN][1000 genomes]
rs796244	0.98[ASN][1000 genomes]
rs809482	0.88[ASN][1000 genomes]
rs809949	0.83[AFR][1000 genomes];0.96[ASN][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	nsv536136	chr2:211497528-211830019	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1012193	chr2:211684524-212072213	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv584310	chr2:211807729-211870954	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211819400-211821200	Enhancers	Hela-S3	cervix
2	chr2:211819800-211821200	Enhancers	HUVEC	blood vessel
3	chr2:211820000-211821200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:211820200-211820600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:211820200-211820600	Enhancers	HMEC	breast
6	chr2:211820200-211820600	Flanking Active TSS	NH-A	brain
7	chr2:211820400-211822800	Weak transcription	HepG2	liver

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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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