Variant report

Variant	rs13262031
Chromosome Location	chr8:9389241-9389242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10109026	0.91[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs11249934	0.81[JPT][hapmap];0.80[TSI][hapmap]
rs12542457	0.81[JPT][hapmap]
rs12545250	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs1394	0.81[JPT][hapmap];0.80[TSI][hapmap]
rs4075359	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs4128198	0.86[JPT][hapmap]
rs4840426	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs4841196	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs6601327	0.80[CEU][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6601338	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs6601340	0.81[JPT][hapmap]
rs6980728	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6990418	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7004937	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7016732	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9644704	0.81[CHB][hapmap];0.81[JPT][hapmap]

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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs13262031	PRSS55	cis	cerebellum	SCAN
rs13262031	TNKS	cis	cerebellum	SCAN
rs13262031	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs13262031	CTSB	cis	cerebellum	SCAN
rs13262031	DEFB134	cis	cerebellum	SCAN
rs13262031	FLJ10661	cis	cerebellum	SCAN
rs13262031	MFHAS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9385600-9391000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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