Variant report

Variant	rs2764378
Chromosome Location	chr10:96132106-96132107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10882470	0.84[JPT][hapmap]
rs11187930	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11187940	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11187948	0.84[JPT][hapmap]
rs11187960	0.87[CEU][hapmap];0.87[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes]
rs11188020	0.84[CEU][hapmap]
rs1334595	0.92[CEU][hapmap];0.87[GIH][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes]
rs1889486	0.84[JPT][hapmap]
rs1931757	0.92[CEU][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes]
rs1977288	0.92[CEU][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs1977291	0.87[CEU][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs2265366	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs480032	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs493088	0.84[JPT][hapmap]
rs6583941	0.85[AMR][1000 genomes]
rs6583942	0.92[CEU][hapmap];0.85[AMR][1000 genomes]
rs7078478	0.92[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs7086462	0.84[JPT][hapmap]
rs7087798	0.92[CEU][hapmap];0.87[GIH][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs7088008	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7096007	0.81[AMR][1000 genomes]
rs7900007	0.81[AMR][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	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2764378	HELLS	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96128000-96132200	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr10:96130600-96132200	Enhancers	Brain Substantia Nigra	brain
3	chr10:96131400-96132200	Weak transcription	Brain Angular Gyrus	brain
4	chr10:96131400-96132200	Weak transcription	Brain Hippocampus Middle	brain

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