Variant report

Variant	rs1028796
Chromosome Location	chr1:216036382-216036383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10864206	0.81[EUR][1000 genomes]
rs10864207	0.89[TSI][hapmap]
rs10864208	0.87[TSI][hapmap]
rs10864210	0.83[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120665	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11120667	0.81[CEU][hapmap]
rs11120686	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12049485	0.81[CEU][hapmap]
rs12734222	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1538638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1547765	0.85[CEU][hapmap]
rs1934431	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2147912	1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs2365629	0.81[CEU][hapmap]
rs4129019	0.96[CEU][hapmap];0.84[MEX][hapmap];0.82[EUR][1000 genomes]
rs4531267	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs4607850	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs970463	0.81[CEU][hapmap]

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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv949671	chr1:215942740-216120815	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv832548	chr1:215987089-216175724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1028796	RD3	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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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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