Variant report

Variant	rs45518139
Chromosome Location	chr6:133051813-133051814
allele	A/C
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	POLR2A	chr6:133051729-133051970	Hela-S3	cervix:	n/a	n/a
2	FOS	chr6:133051533-133052174	MCF10A-Er-Src	breast:	n/a	n/a
3	NFIC	chr6:133051540-133052148	HepG2	liver:	n/a	n/a
4	MXI1	chr6:133051770-133052037	HepG2	liver:	n/a	n/a
5	STAT3	chr6:133051682-133052130	MCF10A-Er-Src	breast:	n/a	chr6:133051853-133051864 chr6:133051855-133051863 chr6:133052056-133052067
6	FOSL2	chr6:133051701-133052046	HepG2	liver:	n/a	n/a
7	MAFF	chr6:133051717-133052066	HepG2	liver:	n/a	n/a
8	HNF4A	chr6:133051660-133052060	HepG2	liver:	n/a	n/a
9	STAT3	chr6:133051442-133052230	MCF10A-Er-Src	breast:	n/a	chr6:133051853-133051864 chr6:133051578-133051589 chr6:133051855-133051863 chr6:133052056-133052067
10	EP300	chr6:133051693-133052149	A549	lung:	n/a	n/a
11	STAT3	chr6:133050862-133052206	MCF10A-Er-Src	breast:	n/a	chr6:133051853-133051864 chr6:133051578-133051589 chr6:133051855-133051863 chr6:133052056-133052067
12	SP1	chr6:133051637-133052100	HepG2	liver:	n/a	n/a
13	FOS	chr6:133051671-133052209	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL2	chr6:133051667-133052113	HepG2	liver:	n/a	n/a
15	MAFK	chr6:133051726-133052037	HepG2	liver:	n/a	n/a
16	FOXA1	chr6:133051641-133052113	HepG2	liver:	n/a	n/a
17	MAFK	chr6:133051569-133052088	HepG2	liver:	n/a	n/a
18	CEBPB	chr6:133051799-133052010	HepG2	liver:	n/a	n/a
19	FOS	chr6:133051727-133052151	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA2	chr6:133051219-133052344	HepG2	liver:	n/a	n/a
21	CEBPB	chr6:133051742-133052080	HepG2	liver:	n/a	n/a
22	JUND	chr6:133051766-133052014	HepG2	liver:	n/a	n/a
23	EP300	chr6:133051579-133052131	HepG2	liver:	n/a	n/a
24	FOXA1	chr6:133051664-133052080	HepG2	liver:	n/a	n/a
25	MBD4	chr6:133051596-133052123	HepG2	liver:	n/a	n/a
26	ARID3A	chr6:133051709-133052105	HepG2	liver:	n/a	n/a
27	FOXA2	chr6:133051725-133052080	HepG2	liver:	n/a	n/a
28	MYC	chr6:133051723-133052148	MCF10A-Er-Src	breast:	n/a	n/a
29	CEBPB	chr6:133051731-133052115	IMR90	lung:	n/a	n/a
30	MYC	chr6:133051781-133052080	MCF10A-Er-Src	breast:	n/a	n/a
31	SP1	chr6:133051681-133052114	A549	lung:	n/a	n/a
32	FOXA1	chr6:133051686-133052153	HepG2	liver:	n/a	n/a
33	FOSL2	chr6:133051587-133052165	A549	lung:	n/a	n/a
34	FOSL2	chr6:133051715-133052035	A549	lung:	n/a	n/a
35	MYBL2	chr6:133051535-133052219	HepG2	liver:	n/a	n/a
36	FOS	chr6:133051663-133052150	MCF10A-Er-Src	breast:	n/a	n/a
37	JUND	chr6:133051748-133052055	HepG2	liver:	n/a	n/a
38	MAFK	chr6:133051703-133052055	IMR90	lung:	n/a	n/a
39	CEBPB	chr6:133051770-133052471	A549	lung:	n/a	n/a
40	POLR2A	chr6:133051597-133052476	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr6:133051442-133052143	MCF10A-Er-Src	breast:	n/a	chr6:133051853-133051864 chr6:133051578-133051589 chr6:133051855-133051863 chr6:133052056-133052067
42	POLR2A	chr6:133050951-133052007	MCF10A-Er-Src	breast:	n/a	n/a
43	FOXA2	chr6:133051757-133052062	A549	lung:	n/a	n/a
44	TEAD4	chr6:133051784-133051998	HepG2	liver:	n/a	n/a
45	E2F4	chr6:133051712-133052041	MCF10A-Er-Src	breast:	n/a	n/a
46	FOXA1	chr6:133051754-133052032	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133049609..133052376-chr6:133137041..133138744,2	MCF-7	breast:

Variant related genes	Relation type
VNN3	TF binding region
ENSG00000200534	Chromatin interaction
ENSG00000221500	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs33961621	1.00[AMR][1000 genomes]
rs34350418	1.00[AMR][1000 genomes]
rs34779779	1.00[AMR][1000 genomes]
rs34787687	1.00[AMR][1000 genomes]
rs34925225	1.00[AMR][1000 genomes]
rs35576345	1.00[AMR][1000 genomes]
rs35708929	1.00[AMR][1000 genomes]
rs35934863	1.00[AMR][1000 genomes]
rs45442793	1.00[AMR][1000 genomes]
rs45470599	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45610235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45617337	1.00[AMR][1000 genomes]
rs45623638	1.00[AMR][1000 genomes]
rs56889761	1.00[AMR][1000 genomes]
rs58598730	1.00[AMR][1000 genomes]
rs60611103	1.00[AMR][1000 genomes]
rs73550462	1.00[AMR][1000 genomes]
rs73550486	1.00[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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133034800-133053200	Weak transcription	Placenta	Placenta
2	chr6:133038000-133053400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:133044400-133052000	Weak transcription	Primary B cells from cord blood	blood
4	chr6:133044400-133066200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:133048400-133052400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:133050000-133052400	Weak transcription	Stomach Mucosa	stomach
7	chr6:133050200-133055600	Weak transcription	NHDF-Ad	bronchial
8	chr6:133050400-133052600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:133051200-133052800	Enhancers	NHLF	lung
10	chr6:133051400-133052200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:133051400-133052600	Enhancers	Hela-S3	cervix
12	chr6:133051400-133052800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:133051600-133052000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:133051600-133052200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:133051600-133052400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:133051600-133052400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr6:133051600-133052600	Enhancers	HepG2	liver
18	chr6:133051600-133052800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:133051600-133053800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr6:133051800-133052000	Flanking Active TSS	A549	lung
21	chr6:133051800-133052200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:133051800-133052200	Active TSS	Liver	Liver
23	chr6:133051800-133052600	Enhancers	Fetal Lung	lung

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