Variant report

Variant	rs12706769
Chromosome Location	chr7:126859830-126859831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:126844024..126846766-chr7:126858329..126861025,2	K562	blood:
2	chr7:126859803..126861412-chr7:126868321..126870477,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11496165	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs11563682	1.00[CEU][hapmap]
rs11563684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs11772051	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1361958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17862324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17862325	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs17865206	0.88[YRI][hapmap]
rs17866227	1.00[YRI][hapmap]
rs17866228	1.00[YRI][hapmap]
rs17867034	1.00[YRI][hapmap]
rs17867794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17868696	0.93[LWK][hapmap];1.00[YRI][hapmap]
rs2237799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2237801	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs2237802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2283100	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]
rs2299553	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2299556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3808117	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[YRI][hapmap]
rs6965293	1.00[YRI][hapmap]
rs7784231	0.82[CHD][hapmap]
rs7784674	0.93[LWK][hapmap];1.00[YRI][hapmap]
rs886003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs952912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2761367	chr7:126717157-126865324	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1819919	chr7:126850298-126888714	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12706769	IMPDH1	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links