Variant report

Variant	rs13332545
Chromosome Location	chr16:31377390-31377391
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	MAFK	chr16:31377332-31377520	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31375595..31378224-chr16:31462241..31464094,2	K562	blood:
2	chr16:31375617..31378307-chr16:31436876..31438549,2	K562	blood:

Variant related genes	Relation type
ENSG00000261245	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10782004	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1106398	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11150610	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11150612	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11150613	0.95[JPT][hapmap]
rs11150614	0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs11150616	0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11150617	0.90[ASN][1000 genomes]
rs11150619	0.90[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1143682	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11574630	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11574631	0.90[JPT][hapmap]
rs11574639	0.90[ASN][1000 genomes]
rs12444713	0.84[ASN][1000 genomes]
rs12923297	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2230429	0.89[ASN][1000 genomes]
rs2359661	0.84[JPT][hapmap]
rs3087796	0.82[JPT][hapmap]
rs4459557	0.95[JPT][hapmap]
rs4506917	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4597342	0.84[JPT][hapmap]
rs4889649	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs7190997	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs7203472	0.81[ASN][1000 genomes]
rs7206295	0.84[JPT][hapmap]
rs7499192	0.84[JPT][hapmap]
rs8048583	0.84[JPT][hapmap]
rs8060268	0.84[JPT][hapmap]
rs9673519	0.89[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
8	nsv1059610	chr16:31368699-31421660	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3438651	chr16:31373520-31422007	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs13332545	PYCARD	cis	lymphoblastoid	seeQTL
rs13332545	CSDAP1	cis	lymphoblastoid	seeQTL
rs13332545	RABEP2	cis	cerebellum	SCAN
rs13332545	ZNF267	cis	cerebellum	SCAN
rs13332545	CD19	cis	parietal	SCAN
rs13332545	TAOK2	cis	cerebellum	SCAN
rs13332545	ITGAM	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31369600-31381200	Weak transcription	Spleen	Spleen
3	chr16:31369800-31377400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr16:31371000-31377400	Weak transcription	Lung	lung
5	chr16:31371400-31378000	Weak transcription	Primary B cells from cord blood	blood
6	chr16:31373400-31378200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr16:31373400-31381200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:31374600-31377600	Genic enhancers	Monocytes-CD14+_RO01746	blood
9	chr16:31375200-31378200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr16:31375200-31378200	Enhancers	GM12878-XiMat	blood
11	chr16:31375400-31381600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:31375600-31379800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:31377000-31378200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:31377000-31378400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr16:31377200-31378000	Genic enhancers	Primary monocytes fromperipheralblood	blood

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