Variant report

Variant	rs7968808
Chromosome Location	chr12:122661791-122661792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:122661635-122661854	K562	blood:	n/a	n/a
2	SPI1	chr12:122661517-122661961	HL-60	blood:	n/a	n/a
3	HNF4G	chr12:122661739-122662133	HepG2	liver:	n/a	chr12:122661989-122662004

No.	Distal block	Cell Line	Cell type
1	chr12:122661637..122664175-chr12:122674648..122677417,2	K562	blood:
2	chr12:122661637..122663499-chr12:122674584..122677417,2	K562	blood:
3	chr12:122658960..122662118-chr12:122669326..122672467,3	K562	blood:

Variant related genes	Relation type
IL31	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10744335	0.82[MEX][hapmap]
rs10847516	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058587	0.81[AMR][1000 genomes]
rs11058789	0.88[ASW][hapmap];0.96[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11059094	0.82[MEX][hapmap]
rs11059472	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11059505	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11059675	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11608363	0.89[EUR][1000 genomes]
rs11611988	0.81[AMR][1000 genomes]
rs11613060	0.83[AMR][1000 genomes]
rs12816786	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12828783	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28461580	0.82[MEX][hapmap]
rs28605425	0.82[MEX][hapmap]
rs28652632	0.82[MEX][hapmap]
rs4040811	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4372487	0.88[ASW][hapmap];0.96[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4758690	0.81[MEX][hapmap]
rs6489217	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6489244	0.86[MEX][hapmap]
rs7305669	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485447	0.82[MEX][hapmap]
rs7487608	0.82[MEX][hapmap]
rs7953139	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7955910	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7972875	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7972979	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7968808	PSMD9	cis	cerebellum	SCAN
rs7968808	PRKAB1	cis	cerebellum	SCAN
rs7968808	MLXIP	Cis_1M	lymphoblastoid	RTeQTL
rs7968808	GPR81	cis	cerebellum	SCAN
rs7968808	FAM101A	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122658600-122667000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:122658800-122667400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:122660800-122662400	Enhancers	Fetal Intestine Small	intestine
4	chr12:122661200-122662400	Enhancers	Fetal Intestine Large	intestine
5	chr12:122661200-122662400	Enhancers	HepG2	liver
6	chr12:122661200-122665000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:122661400-122665000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:122661600-122662200	Enhancers	Duodenum Mucosa	Duodenum
9	chr12:122661600-122662400	Enhancers	Liver	Liver
10	chr12:122661600-122664600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:122661600-122665000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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