Variant report

Variant	rs7595030
Chromosome Location	chr2:180385523-180385524
allele	A/G
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:12)

rs_ID	r²[population]
rs10169955	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10197005	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10208209	0.87[ASN][1000 genomes]
rs11686958	0.86[CHB][hapmap]
rs11693292	0.80[ASN][1000 genomes]
rs12990747	0.82[CHB][hapmap]
rs1400820	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1474075	0.96[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs16866747	0.90[CHB][hapmap]
rs34822738	0.80[ASN][1000 genomes]
rs4894104	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7593183	0.92[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][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	nsv875468	chr2:180352334-180396869	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv875469	chr2:180354642-180396869	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats 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	chr2:180370800-180392800	Weak transcription	Psoas Muscle	Psoas
2	chr2:180379000-180390400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:180381400-180386400	Weak transcription	Liver	Liver
4	chr2:180383800-180386400	Weak transcription	HepG2	liver
5	chr2:180383800-180389800	Weak transcription	Ovary	ovary
6	chr2:180384200-180391400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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