Variant report

Variant	esv19195
Chromosome Location	chr6:132707651-132712477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536302643	chr6:132707682-132707683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553441721	chr6:132707795-132707796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573466683	chr6:132707805-132707806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539897615	chr6:132707806-132707807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137926681	chr6:132707836-132707837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565560677	chr6:132707851-132707852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376071506	chr6:132707894-132707895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575974211	chr6:132707901-132707902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547953755	chr6:132707909-132707910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558006152	chr6:132707936-132707937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143382460	chr6:132707969-132707970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563090422	chr6:132708006-132708007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573041313	chr6:132708020-132708021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528888539	chr6:132708067-132708068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548792154	chr6:132708083-132708084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3861470	chr6:132708163-132708164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528247772	chr6:132708167-132708168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551197486	chr6:132708178-132708179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3861471	chr6:132708347-132708348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573842433	chr6:132708379-132708380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190284885	chr6:132708437-132708438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145879267	chr6:132708449-132708450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567511691	chr6:132708466-132708467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191632533	chr6:132708483-132708484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553189294	chr6:132708506-132708507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58579517	chr6:132708613-132708614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138695503	chr6:132708621-132708622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370578930	chr6:132708635-132708636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559164217	chr6:132708644-132708645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575909785	chr6:132708720-132708721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533069858	chr6:132708749-132708750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555283340	chr6:132708753-132708754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373693366	chr6:132708825-132708826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573552165	chr6:132708834-132708835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542634082	chr6:132708851-132708852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544667507	chr6:132708870-132708871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9493300	chr6:132708887-132708888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs67051516	chr6:132708891-132708892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56728324	chr6:132708914-132708915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528142252	chr6:132708919-132708920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367796249	chr6:132708985-132708986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544726828	chr6:132709004-132709005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9493301	chr6:132709027-132709028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs9375884	chr6:132709033-132709034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142749016	chr6:132709036-132709037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79662444	chr6:132709047-132709048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144568070	chr6:132709060-132709061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148029169	chr6:132709124-132709125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548316537	chr6:132709165-132709166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188139290	chr6:132709206-132709207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132692600-132709200	Weak transcription	Fetal Kidney	kidney
2	chr6:132693200-132709400	Weak transcription	Fetal Lung	lung
3	chr6:132701600-132709000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:132701600-132709400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:132701600-132713200	Weak transcription	Primary B cells from cord blood	blood
6	chr6:132702000-132709400	Weak transcription	Osteobl	bone
7	chr6:132704200-132712800	Weak transcription	HSMMtube	muscle
8	chr6:132706400-132709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:132706400-132709200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:132706400-132709400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:132706600-132711600	Weak transcription	Fetal Brain Male	brain
12	chr6:132707600-132707800	Strong transcription	NHDF-Ad	bronchial
13	chr6:132707800-132709000	Weak transcription	NHDF-Ad	bronchial
14	chr6:132707800-132711800	Weak transcription	NHLF	lung
15	chr6:132709000-132711800	Enhancers	NHDF-Ad	bronchial
16	chr6:132709000-132712800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:132709200-132709600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:132709200-132709600	Enhancers	Fetal Kidney	kidney
19	chr6:132709200-132709800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:132709200-132709800	Enhancers	NHEK	skin
21	chr6:132709200-132712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:132709200-132712800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:132709400-132709600	Enhancers	Fetal Stomach	stomach
24	chr6:132709400-132709800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:132709400-132709800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:132709400-132709800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:132709400-132709800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:132709400-132709800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:132709400-132709800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:132709400-132709800	Enhancers	HMEC	breast
31	chr6:132709400-132709800	Enhancers	HSMM	muscle
32	chr6:132709400-132709800	Enhancers	NH-A	brain
33	chr6:132709400-132710000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:132709400-132710000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:132709400-132710200	Enhancers	Brain Germinal Matrix	brain
36	chr6:132709400-132710200	Enhancers	Osteobl	bone
37	chr6:132709400-132710600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:132709400-132712000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:132709400-132712800	Enhancers	Fetal Lung	lung
40	chr6:132709600-132709800	Enhancers	Fetal Brain Female	brain
41	chr6:132709600-132712800	Weak transcription	Fetal Kidney	kidney
42	chr6:132709800-132711800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:132709800-132712000	Weak transcription	HMEC	breast
44	chr6:132709800-132712200	Weak transcription	Fetal Stomach	stomach
45	chr6:132709800-132712400	Weak transcription	NHEK	skin
46	chr6:132709800-132712600	Weak transcription	Fetal Brain Female	brain
47	chr6:132709800-132712600	Weak transcription	HSMM	muscle
48	chr6:132709800-132712600	Weak transcription	NH-A	brain
49	chr6:132709800-132713000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:132709800-132713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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