Variant report

Variant	rs194627
Chromosome Location	chr6:82512154-82512155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs194601	0.82[CEU][hapmap];0.89[LWK][hapmap];0.80[MKK][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs194633	0.82[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs2050302	0.88[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs2050303	0.88[CEU][hapmap];0.85[CHB][hapmap];0.84[TSI][hapmap]
rs7341295	0.88[CEU][hapmap];0.85[CHB][hapmap];0.82[EUR][1000 genomes]
rs7758707	0.88[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830712	chr6:82491029-82654531	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs194627	KIAA2026	trans	parietal	SCAN
rs194627	SNAP91	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82507600-82513200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:82509600-82516600	Weak transcription	Stomach Mucosa	stomach

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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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