Variant report

Variant	rs8068547
Chromosome Location	chr17:34273936-34273937
allele	C/G
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	CTCF	chr17:34273820-34273970	NHDF-neo	bronchial:	n/a	n/a
2	CTCF	chr17:34273893-34274680	SK-N-SH	brain:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
3	CTCF	chr17:34273859-34274693	A549	lung:	n/a	chr17:34274287-34274305 chr17:34274292-34274300 chr17:34274289-34274310
4	RAD21	chr17:34273892-34274715	SK-N-SH	brain:	n/a	chr17:34274288-34274307
5	CTCF	chr17:34273840-34273990	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr17:34273920-34274070	NHEK	skin:	n/a	n/a
7	SPI1	chr17:34273833-34274726	GM12878	blood:	n/a	chr17:34274314-34274327 chr17:34274313-34274326 chr17:34274243-34274256 chr17:34274317-34274324 chr17:34274245-34274254 chr17:34274167-34274180 chr17:34274244-34274257

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34273841..34274524-chr17:34476056..34476996,4	MCF-7	breast:
2	chr17:34264862..34267825-chr17:34271764..34274325,3	K562	blood:

Variant related genes	Relation type
LYZL6	TF binding region
ENSG00000161572	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11080364	0.82[EUR][1000 genomes]
rs11080365	0.87[EUR][1000 genomes]
rs11080367	0.83[EUR][1000 genomes]
rs11650038	0.83[EUR][1000 genomes]
rs11650056	0.83[EUR][1000 genomes]
rs11651172	0.83[EUR][1000 genomes]
rs11652963	0.83[EUR][1000 genomes]
rs11656613	0.83[EUR][1000 genomes]
rs11657733	0.83[EUR][1000 genomes]
rs34464091	0.83[EUR][1000 genomes]
rs34592370	0.83[EUR][1000 genomes]
rs4796139	0.81[ASN][1000 genomes]
rs72483219	0.83[EUR][1000 genomes]
rs760191	0.83[EUR][1000 genomes]
rs8064395	0.83[EUR][1000 genomes]
rs8064770	0.83[EUR][1000 genomes]
rs8070653	0.82[EUR][1000 genomes]
rs8071750	0.83[EUR][1000 genomes]
rs8072581	0.83[EUR][1000 genomes]
rs8072586	0.83[EUR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1062125	chr17:34266309-34442620	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8068547	TAF15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34270600-34274000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr17:34270600-34274200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:34270600-34280400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:34270800-34274200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr17:34271200-34274200	Weak transcription	Pancreas	Pancrea
6	chr17:34271200-34274200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr17:34271600-34274400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:34271800-34274400	Weak transcription	K562	blood
9	chr17:34272200-34274400	Weak transcription	Fetal Intestine Large	intestine
10	chr17:34273800-34274200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:34273800-34274200	Enhancers	Dnd41	blood
12	chr17:34273800-34274600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr17:34273800-34274600	Enhancers	Fetal Intestine Small	intestine
14	chr17:34273800-34275000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:34273800-34275200	Enhancers	Primary T cells fromperipheralblood	blood

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