Variant report

Variant	rs1030461
Chromosome Location	chr5:116750291-116750292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10065401	0.84[ASN][1000 genomes]
rs1366185	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1366187	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2016802	0.85[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2245249	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2263587	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2560583	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2560586	0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2560593	0.80[EUR][1000 genomes]
rs2560595	0.83[EUR][1000 genomes]
rs2560600	0.88[ASN][1000 genomes]
rs2560608	0.81[AMR][1000 genomes]
rs2624459	0.80[EUR][1000 genomes]
rs2624462	0.83[EUR][1000 genomes]
rs2624463	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2624558	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs950073	0.80[EUR][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	nsv830457	chr5:116724777-116875060	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv599487	chr5:116732456-116772093	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116748800-116752600	Weak transcription	Fetal Lung	lung

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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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