Variant report

Variant	rs863367
Chromosome Location	chr1:158553285-158553286
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1002309	1.00[TSI][hapmap]
rs12131610	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3737518	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6675810	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv547986	chr1:158520205-158556839	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs863367	PMF1	cis	parietal	SCAN
rs863367	PMVK	cis	parietal	SCAN
rs863367	SH3PXD2A	trans	cerebellum	SCAN
rs863367	S100A13	cis	parietal	SCAN
rs863367	CD5L	cis	parietal	SCAN
rs863367	DENND4B	cis	parietal	SCAN
rs863367	CD1E	cis	parietal	SCAN
rs863367	DCAF8	cis	parietal	SCAN
rs863367	S100A7L2	cis	parietal	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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