Variant report

Variant	esv3494782
Chromosome Location	chr6:132106593-132108798
allele	n/a
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	chr6:132108281-132108576	HepG2	liver:	n/a	n/a
2	CTCF	chr6:132108340-132108490	BJ	skin:	n/a	n/a
3	CTCF	chr6:132108420-132108570	HMF	breast:	n/a	n/a
4	CTCF	chr6:132108440-132108590	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr6:132107510-132107531	GM13976	blood:	n/a	n/a
6	CTCF	chr6:132108480-132108630	HMF	breast:	n/a	n/a
7	E2F4	chr6:132108248-132108523	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr6:132108292-132108655	HepG2	liver:	n/a	chr6:132108371-132108381
9	EP300	chr6:132108134-132108759	HepG2	liver:	n/a	chr6:132108371-132108381
10	FOS	chr6:132108324-132108576	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr6:132108315-132108576	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:132108400-132108492	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr6:132108295-132108664	HepG2	liver:	n/a	n/a
14	FOXA1	chr6:132108349-132108682	HepG2	liver:	n/a	n/a
15	FOXA1	chr6:132108186-132108599	HepG2	liver:	n/a	n/a
16	FOXA1	chr6:132108095-132108711	HepG2	liver:	n/a	n/a
17	FOXA2	chr6:132108291-132108637	HepG2	liver:	n/a	n/a
18	NFIC	chr6:132108148-132108722	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:132106853-132106856	MCF10A-Er-Src	breast:	n/a	n/a
20	SP1	chr6:132108219-132108601	HepG2	liver:	n/a	n/a
21	STAT3	chr6:132108323-132108628	MCF10A-Er-Src	breast:	n/a	chr6:132108492-132108503
22	STAT3	chr6:132108335-132108535	MCF10A-Er-Src	breast:	n/a	chr6:132108492-132108503
23	STAT3	chr6:132108317-132108622	MCF10A-Er-Src	breast:	n/a	chr6:132108492-132108503

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132108564..132109536-chr6:132230686..132231348,2	MCF-7	breast:
2	chr6:132108018..132108845-chr6:132231190..132231765,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000216917	TF binding region
MIR548H5	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112478875	chr6:132106596-132106597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77346327	chr6:132106632-132106633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74868644	chr6:132106633-132106634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566117107	chr6:132106654-132106655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539966556	chr6:132106680-132106681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557817009	chr6:132106682-132106683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569724040	chr6:132106688-132106689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537000740	chr6:132106750-132106751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568327645	chr6:132106764-132106765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187791644	chr6:132106785-132106786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73537644	chr6:132106819-132106820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534594105	chr6:132106822-132106823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553180035	chr6:132106830-132106831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577752620	chr6:132106906-132106907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545100946	chr6:132106944-132106945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79285268	chr6:132106960-132106961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3861469	chr6:132106988-132106989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542612392	chr6:132107080-132107081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13208499	chr6:132107091-132107092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191520081	chr6:132107132-132107133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6926988	chr6:132107159-132107160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183270036	chr6:132107182-132107183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76229548	chr6:132107229-132107230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113432447	chr6:132107246-132107247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551464325	chr6:132107270-132107271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187936076	chr6:132107290-132107291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557004958	chr6:132107323-132107324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62424767	chr6:132107339-132107340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548995411	chr6:132107345-132107346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567550331	chr6:132107355-132107356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114560419	chr6:132107456-132107457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552951942	chr6:132107504-132107505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9493097	chr6:132107543-132107544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191973240	chr6:132107590-132107591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7749523	chr6:132107607-132107608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575447618	chr6:132107608-132107609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185273225	chr6:132107614-132107615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141741927	chr6:132107623-132107624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12660595	chr6:132107638-132107639	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541716885	chr6:132107645-132107646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369067934	chr6:132107656-132107657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150584305	chr6:132107707-132107708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190152463	chr6:132107728-132107729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192868196	chr6:132107742-132107743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75659805	chr6:132107795-132107796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138662976	chr6:132107859-132107860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367821293	chr6:132107867-132107868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149560644	chr6:132107875-132107876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376389186	chr6:132107932-132107933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77349927	chr6:132107954-132107955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132099800-132109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:132100400-132109400	Weak transcription	Aorta	Aorta
3	chr6:132104200-132107400	Weak transcription	HepG2	liver
4	chr6:132105600-132106600	Enhancers	NHDF-Ad	bronchial
5	chr6:132105800-132108600	Weak transcription	Adipose Nuclei	Adipose
6	chr6:132105800-132109000	Weak transcription	Fetal Stomach	stomach
7	chr6:132106000-132108000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:132106200-132107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:132106200-132108800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:132106200-132109000	Weak transcription	HSMMtube	muscle
11	chr6:132106400-132107600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:132106400-132113000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:132106600-132107800	Weak transcription	NHDF-Ad	bronchial
14	chr6:132107400-132109600	Enhancers	HepG2	liver
15	chr6:132107600-132109800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:132107600-132110800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:132107800-132110800	Enhancers	NHDF-Ad	bronchial
18	chr6:132108000-132110600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:132108000-132111000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:132108400-132109000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:132108600-132109800	Enhancers	Adipose Nuclei	Adipose
22	chr6:132108600-132110600	Enhancers	NHLF	lung
23	chr6:132108600-132111000	Enhancers	Osteobl	bone

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