Variant report

Variant	rs2280785
Chromosome Location	chr17:34264124-34264125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:34263107..34265585-chr4:113207766..113210422,2	MCF-7	breast:
2	chr17:34257735..34259695-chr17:34260780..34264924,4	K562	blood:
3	chr17:34257293..34261101-chr17:34262083..34265206,5	K562	blood:

Variant related genes	Relation type
ENSG00000187456	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11080364	0.83[ASN][1000 genomes]
rs11080365	0.83[ASN][1000 genomes]
rs11080367	0.80[ASN][1000 genomes]
rs11650038	0.83[ASN][1000 genomes]
rs11650056	0.83[ASN][1000 genomes]
rs11651172	0.81[ASN][1000 genomes]
rs11652963	0.82[ASN][1000 genomes]
rs11657733	0.82[ASN][1000 genomes]
rs2280784	0.88[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2526330	0.87[ASN][1000 genomes]
rs2702951	0.85[ASN][1000 genomes]
rs2735472	0.87[ASN][1000 genomes]
rs34464091	0.83[ASN][1000 genomes]
rs34592370	0.83[ASN][1000 genomes]
rs67974110	0.83[ASN][1000 genomes]
rs72483219	0.82[ASN][1000 genomes]
rs760191	0.81[ASN][1000 genomes]
rs8064395	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs8064770	0.82[ASN][1000 genomes]
rs8070653	0.81[ASN][1000 genomes]
rs8071750	0.81[ASN][1000 genomes]
rs8072581	0.82[ASN][1000 genomes]
rs8072586	0.82[ASN][1000 genomes]
rs8077018	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3380735	chr17:34246253-34271932	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1063100	chr17:34246253-34397598	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833424	chr17:34246253-34419476	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1056950	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1059795	chr17:34246253-34442620	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1060457	chr17:34246253-34442620	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv543320	chr17:34246253-34442620	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv949160	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2280785	TAF15	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34257800-34266200	Weak transcription	Aorta	Aorta
2	chr17:34258000-34273800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:34260000-34264600	Weak transcription	K562	blood
4	chr17:34262600-34265800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:34263400-34264200	Enhancers	Fetal Intestine Small	intestine
6	chr17:34263400-34264400	Enhancers	Fetal Intestine Large	intestine
7	chr17:34264000-34264200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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