Variant report

Variant	esv3392299
Chromosome Location	chr6:119913753-119915751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119913316..119915387-chr6:119941334..119943937,2	MCF-7	breast:
2	chr6:119887882..119890557-chr6:119911276..119913826,2	K562	blood:
3	chr6:119888447..119890076-chr6:119915502..119917028,2	K562	blood:
4	chr6:119911222..119913281-chr6:119914244..119916111,2	K562	blood:
5	chr6:119904409..119907006-chr6:119913661..119916610,3	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565167813	chr6:119913768-119913769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572303307	chr6:119913770-119913771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541198841	chr6:119913848-119913849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561244950	chr6:119913903-119913904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542193655	chr6:119913940-119913941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187098051	chr6:119913959-119913960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373922281	chr6:119913960-119913961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551104423	chr6:119914050-119914051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17238591	chr6:119914068-119914069	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532364665	chr6:119914098-119914099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142206127	chr6:119914194-119914195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575232752	chr6:119914203-119914204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545459930	chr6:119914205-119914206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566014645	chr6:119914211-119914212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564081774	chr6:119914287-119914288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528189501	chr6:119914375-119914376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548729635	chr6:119914379-119914380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112824589	chr6:119914402-119914403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367717796	chr6:119914461-119914462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567260435	chr6:119914474-119914475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536300005	chr6:119914490-119914491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534227629	chr6:119914491-119914492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191173544	chr6:119914505-119914506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78579690	chr6:119914507-119914508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201612983	chr6:119914508-119914509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573935042	chr6:119914535-119914536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374031949	chr6:119914536-119914537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538622482	chr6:119914567-119914568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536328273	chr6:119914574-119914575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374527109	chr6:119914579-119914580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182183365	chr6:119914583-119914584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111603236	chr6:119914585-119914586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540880833	chr6:119914588-119914589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554705966	chr6:119914593-119914594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529440518	chr6:119914601-119914602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543938816	chr6:119914602-119914603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187188829	chr6:119914608-119914609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199546983	chr6:119914609-119914610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532401252	chr6:119914611-119914612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189930300	chr6:119914613-119914614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4946432	chr6:119914614-119914615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528744176	chr6:119914615-119914616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182918026	chr6:119914618-119914619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59134347	chr6:119914640-119914641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568685768	chr6:119914646-119914647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556265001	chr6:119914647-119914648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376594669	chr6:119914661-119914662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576480355	chr6:119914662-119914663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5879511	chr6:119914666-119914667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531001874	chr6:119914667-119914668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119911800-119916000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:119912400-119923200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:119912600-119916000	Weak transcription	HMEC	breast
4	chr6:119913800-119914400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:119914000-119915200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:119914800-119915200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:119915000-119917600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:119915200-119915400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:119915200-119915600	Enhancers	Pancreas	Pancrea
10	chr6:119915200-119915800	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:119915600-119916600	Weak transcription	Pancreas	Pancrea

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