Variant report

Variant	esv3416130
Chromosome Location	chr6:86837282-86864146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 664 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574874883	chr6:86837316-86837317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149274816	chr6:86837335-86837336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144472454	chr6:86837350-86837351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531373170	chr6:86837357-86837358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147994364	chr6:86837364-86837365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561336499	chr6:86837369-86837370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564817076	chr6:86837378-86837379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189838026	chr6:86837388-86837389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528710411	chr6:86837389-86837390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546978218	chr6:86837427-86837428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559066379	chr6:86837456-86837457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181063066	chr6:86837491-86837492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34193434	chr6:86837506-86837507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147335653	chr6:86837544-86837545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141002717	chr6:86837549-86837550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570246290	chr6:86837555-86837556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537219476	chr6:86837573-86837574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567351278	chr6:86837580-86837581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552930282	chr6:86837585-86837586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536216463	chr6:86837587-86837588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186005111	chr6:86837642-86837643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191246242	chr6:86837664-86837665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574702340	chr6:86837676-86837677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535961243	chr6:86837677-86837678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144900198	chr6:86837684-86837685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576215484	chr6:86837722-86837723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543199653	chr6:86837737-86837738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116071635	chr6:86837754-86837755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576722050	chr6:86837767-86837768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79260691	chr6:86837877-86837878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559307404	chr6:86837900-86837901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529623686	chr6:86837915-86837916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183102700	chr6:86837918-86837919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563213970	chr6:86837929-86837930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531161666	chr6:86837945-86837946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150882439	chr6:86837953-86837954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187249297	chr6:86837972-86837973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559225902	chr6:86837987-86837988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113502659	chr6:86837988-86837989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139337756	chr6:86838027-86838028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118023143	chr6:86838034-86838035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547281311	chr6:86838040-86838041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150010523	chr6:86838071-86838072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557464804	chr6:86838096-86838097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377380063	chr6:86838108-86838109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575641684	chr6:86838149-86838150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545097365	chr6:86838158-86838159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2206977	chr6:86838222-86838223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112289412	chr6:86838223-86838224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145245922	chr6:86838225-86838226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	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
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86826600-86839600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:86839600-86839800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:86852200-86852800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:86852800-86856800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:86854600-86854800	Enhancers	Ovary	ovary
6	chr6:86854800-86865800	Weak transcription	Ovary	ovary
7	chr6:86856800-86857000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:86856800-86857000	Enhancers	Pancreas	Pancrea
9	chr6:86857000-86858200	Weak transcription	Pancreas	Pancrea
10	chr6:86857200-86857400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr6:86858200-86858800	Enhancers	Pancreas	Pancrea
12	chr6:86858800-86862200	Weak transcription	Pancreas	Pancrea
13	chr6:86860800-86862600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:86861000-86861200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:86861200-86862600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:86861400-86861600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr6:86861400-86862400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:86861400-86862800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:86861400-86862800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:86861600-86862600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:86861800-86862600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:86861800-86862800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:86862000-86863000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:86862200-86862600	Enhancers	Pancreas	Pancrea
25	chr6:86862400-86862800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr6:86862400-86863400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:86862600-86863400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:86862600-86863800	Weak transcription	Pancreas	Pancrea
29	chr6:86863000-86863200	Enhancers	Aorta	Aorta
30	chr6:86863200-86865400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:86863400-86863600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:86863400-86864400	Weak transcription	Aorta	Aorta
33	chr6:86863800-86864200	Enhancers	Pancreas	Pancrea

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