Variant report

Variant	rs767147
Chromosome Location	chr6:133057661-133057662
allele	A/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	ARID3A	chr6:133057499-133057746	HepG2	liver:	n/a	n/a
2	FOS	chr6:133057371-133057837	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:133057462-133058214	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:133057373-133057830	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXA1	chr6:133057421-133057738	HepG2	liver:	n/a	n/a
6	FOS	chr6:133057410-133057838	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr6:133057400-133057790	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr6:133057370-133057706	Hela-S3	cervix:	n/a	chr6:133057529-133057543 chr6:133057526-133057546 chr6:133057530-133057541 chr6:133057531-133057540 chr6:133057532-133057541
9	STAT3	chr6:133057301-133057789	MCF10A-Er-Src	breast:	n/a	chr6:133057529-133057543 chr6:133057526-133057546 chr6:133057530-133057541 chr6:133057531-133057540 chr6:133057532-133057541
10	E2F4	chr6:133057498-133057792	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr6:133057420-133057758	HepG2	liver:	n/a	n/a
12	CEBPB	chr6:133057449-133057759	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr6:133056992-133057851	MCF10A-Er-Src	breast:	n/a	chr6:133057529-133057543 chr6:133057526-133057546 chr6:133057530-133057541 chr6:133057531-133057540 chr6:133057532-133057541
14	STAT3	chr6:133057291-133057903	MCF10A-Er-Src	breast:	n/a	chr6:133057529-133057543 chr6:133057526-133057546 chr6:133057530-133057541 chr6:133057531-133057540 chr6:133057532-133057541
15	FOS	chr6:133057371-133057838	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr6:133057271-133057839	MCF10A-Er-Src	breast:	n/a	chr6:133057529-133057543 chr6:133057526-133057546 chr6:133057530-133057541 chr6:133057531-133057540 chr6:133057532-133057541
17	EP300	chr6:133057321-133057751	HepG2	liver:	n/a	n/a
18	MYC	chr6:133057366-133057886	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr6:133054417-133058306	MCF10A-Er-Src	breast:	n/a	n/a
20	CEBPB	chr6:133057466-133057740	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133054047..133059196-chr6:133082600..133087082,5	MCF-7	breast:
2	chr6:132968732..132971357-chr6:133057233..133059369,2	MCF-7	breast:

Variant related genes	Relation type
VNN3	TF binding region
ENSG00000271488	Chromatin interaction
ENSG00000112303	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10223577	0.94[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45587637	1.00[EUR][1000 genomes]
rs6569831	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6569834	1.00[MEX][hapmap]
rs6569838	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6917978	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6918343	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9321361	0.94[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9321362	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493430	0.89[ASW][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs9493431	1.00[MEX][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs767147	TMPRSS3	trans	lymphoblastoid	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133044400-133066200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:133052400-133058800	Enhancers	Stomach Mucosa	stomach
3	chr6:133054400-133058400	Enhancers	HepG2	liver
4	chr6:133055000-133058200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:133055200-133057800	Weak transcription	Small Intestine	intestine
6	chr6:133055200-133064800	Weak transcription	Primary T cells from cord blood	blood
7	chr6:133056000-133058000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:133056000-133058400	Enhancers	Liver	Liver
9	chr6:133056000-133059000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:133056600-133058000	Weak transcription	Placenta	Placenta
11	chr6:133056800-133058000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:133056800-133058200	Weak transcription	Pancreas	Pancrea
13	chr6:133056800-133058600	Enhancers	Primary B cells from cord blood	blood
14	chr6:133056800-133067400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:133057200-133058400	Enhancers	Hela-S3	cervix
16	chr6:133057400-133058400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr6:133057600-133058000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr6:133057600-133069200	Weak transcription	GM12878-XiMat	blood

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