Variant report

Variant	rs62184548
Chromosome Location	chr2:212808309-212808310
allele	A/C
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:9)

rs_ID	r²[population]
rs10180494	0.92[ASN][1000 genomes]
rs10210841	0.99[ASN][1000 genomes]
rs13027169	0.99[ASN][1000 genomes]
rs2118892	0.94[ASN][1000 genomes]
rs2165098	0.95[ASN][1000 genomes]
rs55866026	0.90[ASN][1000 genomes]
rs72935738	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7578784	0.99[ASN][1000 genomes]
rs7598440	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv834525	chr2:212693190-212860356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3459968	chr2:212801787-212809404	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3459969	chr2:212801787-212809404	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv20047	chr2:212801927-212809271	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212806800-212816400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:212808000-212808400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:212808000-212808600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:212808200-212808600	Enhancers	Fetal Heart	heart

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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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