Variant report

Variant	esv3388513
Chromosome Location	chr6:119984003-119985451
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	chr6:119984260..119986895-chr6:119991023..119994308,3	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 110 )

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	rs543106500	chr6:119984013-119984014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190460758	chr6:119984041-119984042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576807206	chr6:119984059-119984060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117899383	chr6:119984079-119984080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563662472	chr6:119984111-119984112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559709108	chr6:119984112-119984113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115740856	chr6:119984168-119984169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9489763	chr6:119984206-119984207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561835220	chr6:119984216-119984217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372719456	chr6:119984254-119984255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6915848	chr6:119984280-119984281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368273205	chr6:119984339-119984340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550756568	chr6:119984344-119984345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570915513	chr6:119984345-119984346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9374814	chr6:119984406-119984407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34148357	chr6:119984431-119984432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377166691	chr6:119984466-119984467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375784037	chr6:119984516-119984517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201893966	chr6:119984524-119984525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547640056	chr6:119984553-119984554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377110101	chr6:119984580-119984581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67535567	chr6:119984581-119984582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35319105	chr6:119984583-119984584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9387670	chr6:119984631-119984632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs71559863	chr6:119984680-119984681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528619508	chr6:119984753-119984754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535721587	chr6:119984777-119984778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555545354	chr6:119984940-119984941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575394759	chr6:119984966-119984967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538427153	chr6:119984982-119984983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182282177	chr6:119985009-119985010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556828907	chr6:119985015-119985016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7757918	chr6:119985036-119985037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545512487	chr6:119985064-119985065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553550192	chr6:119985100-119985101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184630588	chr6:119985117-119985118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73769444	chr6:119985142-119985143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545899474	chr6:119985143-119985144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140365546	chr6:119985144-119985145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188295462	chr6:119985162-119985163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369289423	chr6:119985184-119985185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565763532	chr6:119985194-119985195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57207471	chr6:119985206-119985207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150381727	chr6:119985207-119985208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533431315	chr6:119985208-119985209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546612924	chr6:119985209-119985210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566483625	chr6:119985261-119985262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180820699	chr6:119985289-119985290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549308274	chr6:119985296-119985297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554768336	chr6:119985302-119985303	Enhancers	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119974200-119985000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:119983800-119985000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:119985000-119985400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:119985000-119985600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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