Variant report

Variant	rs8180809
Chromosome Location	chr7:137780625-137780626
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	chr7:137774458..137776682-chr7:137779682..137782164,2	K562	blood:
2	chr7:137776778..137778514-chr7:137780065..137781935,2	K562	blood:

Variant related genes	Relation type
ENSG00000222514	Chromatin interaction
ENSG00000122787	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10226024	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10265064	0.92[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10278929	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10280600	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10280818	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10954601	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11760991	0.80[AMR][1000 genomes]
rs12111721	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13223644	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13243602	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1817686	0.84[GIH][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes]
rs2035648	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.86[ASN][1000 genomes]
rs2035736	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.84[ASN][1000 genomes]
rs2352140	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28533201	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28609414	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34315519	0.88[ASN][1000 genomes]
rs4728430	0.91[CEU][hapmap]
rs4732288	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57020142	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6467734	0.92[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6467736	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.88[ASN][1000 genomes]
rs6943498	0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][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	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv831151	chr7:137711447-137865471	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8180809	C7orf55	cis	parietal	SCAN
rs8180809	MKRN1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137776600-137790000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:137779800-137782400	Enhancers	Fetal Intestine Large	intestine
3	chr7:137780200-137782200	Enhancers	Liver	Liver
4	chr7:137780400-137782800	Enhancers	Fetal Intestine Small	intestine
5	chr7:137780600-137782800	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links