Variant report

Variant	rs4730461
Chromosome Location	chr7:78324858-78324859
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10239001	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10262658	0.94[EUR][1000 genomes]
rs10269389	0.89[EUR][1000 genomes]
rs12531323	0.86[EUR][1000 genomes]
rs12668963	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes]
rs12673024	0.95[JPT][hapmap]
rs13243808	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes]
rs2190662	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2190663	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2190664	1.00[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2190665	0.89[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.80[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7785088	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7791589	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv888509	chr7:78307944-78327299	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	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	chr7:78313800-78334200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:78318000-78326800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:78318400-78327400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:78322200-78328800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:78323600-78325400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:78324800-78325000	Enhancers	Brain Angular Gyrus	brain

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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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