Variant report

Variant	esv2587623
Chromosome Location	chr6:132105759-132109244
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	chr6:132107510-132107531	GM13976	blood:	n/a	n/a
3	CTCF	chr6:132109180-132109330	AG10803	skin:	n/a	n/a
4	CTCF	chr6:132108340-132108490	BJ	skin:	n/a	n/a
5	CTCF	chr6:132108440-132108590	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr6:132108480-132108630	HMF	breast:	n/a	n/a
7	CTCF	chr6:132108420-132108570	HMF	breast:	n/a	n/a
8	E2F4	chr6:132108248-132108523	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr6:132108292-132108655	HepG2	liver:	n/a	chr6:132108371-132108381
10	EP300	chr6:132108134-132108759	HepG2	liver:	n/a	chr6:132108371-132108381
11	FOS	chr6:132108400-132108492	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:132108324-132108576	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr6:132108315-132108576	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr6:132108295-132108664	HepG2	liver:	n/a	n/a
15	FOXA1	chr6:132108349-132108682	HepG2	liver:	n/a	n/a
16	FOXA1	chr6:132108095-132108711	HepG2	liver:	n/a	n/a
17	FOXA1	chr6:132108186-132108599	HepG2	liver:	n/a	n/a
18	FOXA2	chr6:132108291-132108637	HepG2	liver:	n/a	n/a
19	NFIC	chr6:132108148-132108722	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:132105831-132105833	Gliobla	brain:	n/a	n/a
21	POLR2A	chr6:132106853-132106856	MCF10A-Er-Src	breast:	n/a	n/a
22	SP1	chr6:132108219-132108601	HepG2	liver:	n/a	n/a
23	STAT3	chr6:132108317-132108622	MCF10A-Er-Src	breast:	n/a	chr6:132108492-132108503
24	STAT3	chr6:132108323-132108628	MCF10A-Er-Src	breast:	n/a	chr6:132108492-132108503
25	STAT3	chr6:132108335-132108535	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: 140 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186323145	chr6:132105761-132105762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546152959	chr6:132105770-132105771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190331738	chr6:132105834-132105835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368897132	chr6:132105874-132105875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543290943	chr6:132105891-132105892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117047085	chr6:132105909-132105910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182890547	chr6:132105923-132105924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540776403	chr6:132105926-132105927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79560991	chr6:132105927-132105928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532809985	chr6:132105932-132105933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79809240	chr6:132105967-132105968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12665617	chr6:132105997-132105998	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532095319	chr6:132105999-132106000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550486427	chr6:132106001-132106002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186955052	chr6:132106062-132106063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570690624	chr6:132106089-132106090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113196103	chr6:132106137-132106138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553997173	chr6:132106164-132106165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372027739	chr6:132106179-132106180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3908474	chr6:132106212-132106213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539533682	chr6:132106239-132106240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557757505	chr6:132106244-132106245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576024293	chr6:132106250-132106251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528241664	chr6:132106267-132106268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543352513	chr6:132106282-132106283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555200684	chr6:132106289-132106290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140266938	chr6:132106335-132106336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541190890	chr6:132106355-132106356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191374486	chr6:132106423-132106424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183149923	chr6:132106451-132106452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112053691	chr6:132106492-132106493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374614522	chr6:132106498-132106499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530481109	chr6:132106508-132106509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145350402	chr6:132106524-132106525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568744032	chr6:132106534-132106535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112478875	chr6:132106596-132106597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77346327	chr6:132106632-132106633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74868644	chr6:132106633-132106634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566117107	chr6:132106654-132106655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539966556	chr6:132106680-132106681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557817009	chr6:132106682-132106683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569724040	chr6:132106688-132106689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537000740	chr6:132106750-132106751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568327645	chr6:132106764-132106765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187791644	chr6:132106785-132106786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73537644	chr6:132106819-132106820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534594105	chr6:132106822-132106823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553180035	chr6:132106830-132106831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577752620	chr6:132106906-132106907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545100946	chr6:132106944-132106945	Weak transcription	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:43 , 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	chr6:132105200-132105800	Enhancers	Adipose Nuclei	Adipose
5	chr6:132105200-132106200	Enhancers	Fetal Muscle Leg	muscle
6	chr6:132105400-132105800	Enhancers	Fetal Stomach	stomach
7	chr6:132105400-132106000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:132105400-132106200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:132105400-132106400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:132105600-132106200	Enhancers	HSMMtube	muscle
11	chr6:132105600-132106600	Enhancers	NHDF-Ad	bronchial
12	chr6:132105800-132106400	Enhancers	Fetal Muscle Trunk	muscle
13	chr6:132105800-132108600	Weak transcription	Adipose Nuclei	Adipose
14	chr6:132105800-132109000	Weak transcription	Fetal Stomach	stomach
15	chr6:132106000-132108000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:132106200-132107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:132106200-132108800	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:132106200-132109000	Weak transcription	HSMMtube	muscle
19	chr6:132106400-132107600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:132106400-132113000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:132106600-132107800	Weak transcription	NHDF-Ad	bronchial
22	chr6:132107400-132109600	Enhancers	HepG2	liver
23	chr6:132107600-132109800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:132107600-132110800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:132107800-132110800	Enhancers	NHDF-Ad	bronchial
26	chr6:132108000-132110600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:132108000-132111000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:132108400-132109000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:132108600-132109800	Enhancers	Adipose Nuclei	Adipose
30	chr6:132108600-132110600	Enhancers	NHLF	lung
31	chr6:132108600-132111000	Enhancers	Osteobl	bone
32	chr6:132108800-132109800	Enhancers	Fetal Muscle Leg	muscle
33	chr6:132108800-132110000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:132108800-132110800	Enhancers	HSMM	muscle
35	chr6:132109000-132109400	Enhancers	HSMMtube	muscle
36	chr6:132109000-132109600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:132109000-132109600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr6:132109000-132109800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:132109000-132109800	Enhancers	Fetal Stomach	stomach
40	chr6:132109000-132109800	Enhancers	Ovary	ovary
41	chr6:132109200-132109600	Enhancers	Brain Germinal Matrix	brain
42	chr6:132109200-132109800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:132109200-132110800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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