Variant report

Variant	rs1106398
Chromosome Location	chr16:31370452-31370453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31366361..31368060-chr16:31368172..31370932,2	MCF-7	breast:
2	chr16:31364585..31367756-chr16:31369594..31371710,3	K562	blood:

Variant related genes	Relation type
ENSG00000140678	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10747210	0.82[ASN][1000 genomes]
rs10782004	0.86[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs11150610	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11150611	0.85[ASN][1000 genomes]
rs11150612	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11150613	0.93[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11150614	0.86[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11150616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11150617	0.98[ASN][1000 genomes]
rs11150619	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1143682	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11574630	0.87[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11574631	0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11574639	0.98[ASN][1000 genomes]
rs11645917	0.84[ASN][1000 genomes]
rs11859274	0.84[ASN][1000 genomes]
rs12444713	0.82[ASN][1000 genomes]
rs12923297	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12935192	0.84[ASN][1000 genomes]
rs13332545	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2230429	0.89[ASN][1000 genomes]
rs2359661	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs3087796	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs3815801	0.81[CHB][hapmap]
rs4075052	0.80[ASN][1000 genomes]
rs4077810	0.93[CHB][hapmap]
rs4261553	0.80[ASN][1000 genomes]
rs4359460	0.80[ASN][1000 genomes]
rs4459557	0.93[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4493054	0.83[ASN][1000 genomes]
rs4506917	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4597342	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs4608351	0.80[ASN][1000 genomes]
rs4889649	0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs56392848	0.85[ASN][1000 genomes]
rs7190997	0.96[CEU][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7206295	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs7499192	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs8048583	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs8060268	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs9673398	0.80[ASN][1000 genomes]
rs9673519	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9888907	0.80[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1106398	PRSS53	cis	Esophagus Muscularis	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31368600-31372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:31368800-31373000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:31369200-31371400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:31369400-31370800	Weak transcription	Lung	lung
6	chr16:31369400-31375800	Weak transcription	Liver	Liver
7	chr16:31369600-31371200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr16:31369600-31373200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
9	chr16:31369600-31375200	Weak transcription	GM12878-XiMat	blood
10	chr16:31369600-31381200	Weak transcription	Spleen	Spleen
11	chr16:31369800-31371000	Weak transcription	Primary B cells from cord blood	blood
12	chr16:31369800-31377400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:31370000-31376400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:31370400-31372000	Enhancers	Primary monocytes fromperipheralblood	blood

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