Variant report

Variant	rs8057401
Chromosome Location	chr16:31524685-31524686
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	FOS	chr16:31524521-31524790	MCF10A-Er-Src	breast:	n/a	n/a
2	FOSL2	chr16:31524416-31524921	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr16:31524240-31524912	SK-N-SH	brain:	n/a	n/a
4	FOS	chr16:31524501-31524724	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr16:31524498-31524726	MCF10A-Er-Src	breast:	n/a	n/a
6	PBX3	chr16:31524485-31524932	SK-N-SH	brain:	n/a	n/a
7	FOS	chr16:31524492-31524803	MCF10A-Er-Src	breast:	n/a	n/a
8	JUND	chr16:31524415-31524980	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr16:31524412-31524910	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr16:31524132-31524938	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr16:31524374-31524976	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr16:31524376-31524930	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr16:31524377-31524927	SK-N-SH	brain:	n/a	n/a
14	MYC	chr16:31524532-31524719	MCF10A-Er-Src	breast:	n/a	n/a
15	PBX3	chr16:31524393-31524972	SK-N-SH	brain:	n/a	n/a
16	EP300	chr16:31524367-31524913	SK-N-SH	brain:	n/a	n/a
17	NFIC	chr16:31524376-31524973	SK-N-SH	brain:	n/a	n/a
18	STAT3	chr16:31524491-31524725	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31501847..31503984-chr16:31524265..31525852,2	K562	blood:
2	chr16:31486171..31487950-chr16:31523746..31526284,2	K562	blood:

Variant related genes	Relation type
C16orf58	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11150626	0.92[JPT][hapmap]
rs1123498	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12927208	0.89[ASN][1000 genomes]
rs13143	0.92[JPT][hapmap]
rs13337037	1.00[JPT][hapmap]
rs28692853	0.82[ASN][1000 genomes]
rs28813115	0.89[ASN][1000 genomes]
rs34497199	0.89[ASN][1000 genomes]
rs34742827	0.89[ASN][1000 genomes]
rs35856922	0.89[ASN][1000 genomes]
rs3934739	1.00[JPT][hapmap]
rs4468642	0.90[ASN][1000 genomes]
rs4519345	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4550470	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4587995	0.90[ASN][1000 genomes]
rs4889548	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs4889673	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6565236	1.00[JPT][hapmap]
rs6565241	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6565242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67464975	0.89[ASN][1000 genomes]
rs7199801	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8046452	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8049216	0.89[ASN][1000 genomes]
rs8050390	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8057207	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9934336	1.00[JPT][hapmap]
rs9935222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
8	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
9	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
10	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	esv1823209	chr16:31521276-31580272	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8057401	DCTPP1	cis	cerebellum	SCAN
rs8057401	PRR14	cis	cerebellum	SCAN
rs8057401	MVP	cis	cerebellum	SCAN
rs8057401	SLC5A2	cis	lung	GTEx
rs8057401	AC026471.6	cis	lung	GTEx
rs8057401	AHSP	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31521400-31525400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:31523600-31525600	Enhancers	HSMMtube	muscle
3	chr16:31524000-31525000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr16:31524000-31525400	Enhancers	Osteobl	bone
5	chr16:31524200-31524800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:31524200-31525200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:31524200-31525600	Enhancers	HMEC	breast
8	chr16:31524200-31525600	Enhancers	NHEK	skin
9	chr16:31524400-31524800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:31524400-31524800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:31524400-31525200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:31524400-31525200	Enhancers	HSMM	muscle
13	chr16:31524600-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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