Variant report

Variant	esv2608977
Chromosome Location	chr6:134091567-134093190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:104484256..104485211-chr6:134091919..134092643,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184157462	chr6:134091592-134091593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554297258	chr6:134091617-134091618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576974597	chr6:134091662-134091663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528786978	chr6:134091684-134091685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188180937	chr6:134091698-134091699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551334153	chr6:134091728-134091729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541113434	chr6:134091763-134091764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35496668	chr6:134091769-134091770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111677313	chr6:134091777-134091778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73561588	chr6:134091808-134091809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567795741	chr6:134091822-134091823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367743312	chr6:134091831-134091832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559232430	chr6:134091844-134091845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10485156	chr6:134091859-134091860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547890097	chr6:134091860-134091861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561215614	chr6:134091914-134091915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377076302	chr6:134091953-134091954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1208228	chr6:134091966-134091967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534938327	chr6:134091992-134091993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192386556	chr6:134092003-134092004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184763409	chr6:134092017-134092018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73561590	chr6:134092040-134092041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556769780	chr6:134092055-134092056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549919470	chr6:134092096-134092097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142547440	chr6:134092128-134092129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542830735	chr6:134092197-134092198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563893831	chr6:134092200-134092201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559543303	chr6:134092228-134092229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573163555	chr6:134092245-134092246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377557910	chr6:134092261-134092262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570666319	chr6:134092263-134092264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188882982	chr6:134092350-134092351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72978181	chr6:134092402-134092403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150567319	chr6:134092450-134092451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181894744	chr6:134092620-134092621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184846324	chr6:134092637-134092638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78090316	chr6:134092646-134092647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144523185	chr6:134092649-134092650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147849917	chr6:134092674-134092675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566075574	chr6:134092679-134092680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74480270	chr6:134092772-134092773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113336066	chr6:134092790-134092791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144603554	chr6:134092822-134092823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536624707	chr6:134092878-134092879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565982794	chr6:134092900-134092901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189405941	chr6:134092933-134092934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181379005	chr6:134092993-134092994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535954663	chr6:134093046-134093047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536614483	chr6:134093060-134093061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185190996	chr6:134093128-134093129	Weak transcription Enhancers	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
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134086200-134112400	Weak transcription	Aorta	Aorta
2	chr6:134089000-134092400	Weak transcription	NHLF	lung
3	chr6:134089000-134095400	Weak transcription	A549	lung
4	chr6:134090800-134091800	Weak transcription	Fetal Stomach	stomach
5	chr6:134090800-134093400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:134090800-134095400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:134091000-134092000	Weak transcription	Fetal Lung	lung
8	chr6:134091000-134095000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:134091000-134095200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:134091000-134095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:134091000-134095400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:134091000-134095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:134091000-134095400	Weak transcription	Osteobl	bone
14	chr6:134091000-134095600	Weak transcription	NHDF-Ad	bronchial
15	chr6:134091000-134100000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:134091200-134092000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:134091200-134095800	Weak transcription	HSMM	muscle
18	chr6:134091800-134092000	Enhancers	Fetal Stomach	stomach
19	chr6:134092000-134092200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:134092000-134094800	Enhancers	Fetal Lung	lung
21	chr6:134092200-134092400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:134092400-134092600	Enhancers	NHLF	lung

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