Variant report

Variant	rs1799867
Chromosome Location	chr11:46747979-46747980
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46746847..46748367-chr17:41398813..41400492,2	K562	blood:
2	chr11:46747479..46750421-chr11:46771928..46774649,2	MCF-7	breast:
3	chr11:46723694..46726091-chr11:46747520..46750064,2	K562	blood:
4	chr11:46746849..46748369-chr17:41382011..41383900,4	K562	blood:
5	chr11:46746847..46748369-chr17:41380576..41383669,4	K562	blood:

Variant related genes	Relation type
ENSG00000236383	Chromatin interaction
ENSG00000175213	Chromatin interaction
ENSG00000175216	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10838612	0.83[ASN][1000 genomes]
rs11038977	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11038994	0.80[AMR][1000 genomes]
rs11038999	0.80[AMR][1000 genomes]
rs11039002	0.80[AMR][1000 genomes]
rs11602036	0.85[AMR][1000 genomes]
rs11602537	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11604876	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574512	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575609	0.83[AMR][1000 genomes]
rs2070850	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2070851	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3136441	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3136447	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3136449	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3136457	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3136458	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3136460	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3136499	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076557	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4453193	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4453194	0.87[AMR][1000 genomes]
rs4469848	0.80[AMR][1000 genomes]
rs4491174	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4534535	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4603265	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4752931	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752932	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752933	0.85[AMR][1000 genomes]
rs4752936	0.80[AMR][1000 genomes]
rs4752940	0.80[AMR][1000 genomes]
rs57704144	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58561056	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58922799	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5896	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61337452	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv897322	chr11:46739748-46748916	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1799867	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46744400-46752000	Genic enhancers	Liver	Liver
2	chr11:46745000-46751200	Genic enhancers	HepG2	liver
3	chr11:46745400-46748600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:46746000-46749400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:46746000-46758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:46746000-46762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:46746200-46751000	Weak transcription	A549	lung
8	chr11:46746200-46761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:46746200-46761400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:46746400-46751000	Weak transcription	Esophagus	oesophagus
11	chr11:46746800-46748000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:46747800-46748200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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