Variant report

Variant	esv3427169
Chromosome Location	chr6:93268331-93272329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76430521	chr6:93268348-93268349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190477726	chr6:93268371-93268372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559412717	chr6:93268445-93268446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528528045	chr6:93268446-93268447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547194223	chr6:93268537-93268538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376869328	chr6:93268561-93268562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567323553	chr6:93268622-93268623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530021172	chr6:93268640-93268641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549789000	chr6:93268682-93268683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569657895	chr6:93268842-93268843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565154497	chr6:93268887-93268888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377023026	chr6:93268968-93268969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149846384	chr6:93268994-93268995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2183001	chr6:93268997-93268998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565789293	chr6:93269032-93269033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182753253	chr6:93269054-93269055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187281635	chr6:93269102-93269103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73517105	chr6:93269104-93269105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145884984	chr6:93269149-93269150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557368352	chr6:93269162-93269163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368268722	chr6:93269176-93269177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545803185	chr6:93269187-93269188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148972859	chr6:93269192-93269193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377417795	chr6:93269232-93269233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9452044	chr6:93269275-93269276	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567233480	chr6:93269277-93269278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201445421	chr6:93269282-93269283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76097848	chr6:93269309-93269310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561174281	chr6:93269357-93269358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375804299	chr6:93269423-93269424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73517107	chr6:93269428-93269429	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569839963	chr6:93269444-93269445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs783863	chr6:93269448-93269449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114129754	chr6:93269451-93269452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565650683	chr6:93269463-93269464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564758869	chr6:93269500-93269501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533413203	chr6:93269527-93269528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34022004	chr6:93269542-93269543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534723189	chr6:93269545-93269546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543817266	chr6:93269578-93269579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563803857	chr6:93269592-93269593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183016654	chr6:93269754-93269755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568683875	chr6:93269773-93269774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537239918	chr6:93269816-93269817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117653972	chr6:93269864-93269865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548385629	chr6:93269876-93269877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146439274	chr6:93269896-93269897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140910591	chr6:93269927-93269928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187589937	chr6:93269928-93269929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76943525	chr6:93269935-93269936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
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
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	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	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93252400-93268800	Weak transcription	Fetal Heart	heart
2	chr6:93268800-93269200	Enhancers	Fetal Heart	heart
3	chr6:93268800-93269400	Enhancers	Primary T cells from cord blood	blood
4	chr6:93268800-93269600	Enhancers	Primary hematopoietic stem cells	blood
5	chr6:93268800-93270200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:93269000-93269800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr6:93269000-93269800	Enhancers	HUVEC	blood vessel
8	chr6:93269200-93273600	Weak transcription	Fetal Heart	heart
9	chr6:93269400-93269800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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