Variant report

Variant	rs71422719
Chromosome Location	chr2:211821044-211821045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13008138	1.00[ASN][1000 genomes]
rs13009613	0.97[EUR][1000 genomes]
rs13013804	0.87[EUR][1000 genomes]
rs1542009	1.00[ASN][1000 genomes]
rs34352121	0.87[EUR][1000 genomes]
rs35916132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129704	0.80[EUR][1000 genomes]
rs56141456	0.96[ASN][1000 genomes]
rs66506242	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71422720	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71422721	0.89[AFR][1000 genomes];1.00[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:6 , 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	chr2:211820400-211822800	Weak transcription	HepG2	liver
5	chr2:211820600-211821200	Enhancers	NH-A	brain
6	chr2:211821000-211821200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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