Variant report

Variant	rs1830343
Chromosome Location	chr7:147194814-147194815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1406284	1.00[ASW][hapmap]
rs1528510	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs16883528	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1919187	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3915305	1.00[ASW][hapmap]
rs6947428	1.00[ASW][hapmap]
rs700305	0.89[ASW][hapmap]
rs700309	0.88[ASW][hapmap]
rs7783548	1.00[ASW][hapmap]

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	nsv931005	chr7:146730472-147381257	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv15215	chr7:147194510-147195154	Inactive region	Chromatin interactive region	n/a	n/a	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1830343	GIMAP2	cis	parietal	SCAN
rs1830343	ZNF786	cis	cerebellum	SCAN
rs1830343	GIMAP6	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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