Variant report

Variant	rs2267950
Chromosome Location	chr6:133019682-133019683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1024178	0.85[CHB][hapmap];0.89[CHD][hapmap]
rs11965817	0.85[CHB][hapmap]
rs1569653	0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1569654	0.85[CHB][hapmap]
rs2064311	0.87[ASN][1000 genomes]
rs2064312	0.88[ASN][1000 genomes]
rs2272996	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3798800	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3798801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62425072	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62425075	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6930032	0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs9373029	0.86[ASN][1000 genomes]
rs9375915	0.88[ASN][1000 genomes]
rs9389025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399037	0.85[ASN][1000 genomes]
rs9399040	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2267950	AHI1	cis	cerebellum	SCAN
rs2267950	VNN1	cis	multi-tissue	Pritchard
rs2267950	AHI1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133015200-133019800	Weak transcription	Stomach Mucosa	stomach
2	chr6:133015400-133021200	Strong transcription	Liver	Liver
3	chr6:133017800-133032200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:133018000-133020000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:133018200-133028400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:133019400-133020400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:133019600-133020600	Enhancers	GM12878-XiMat	blood

Quick Search:

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

what's new

Quick links