Variant report

Variant	esv3473313
Chromosome Location	chr6:128232066-128233200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539157417	chr6:128232115-128232116	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139122458	chr6:128232117-128232118	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111699784	chr6:128232158-128232159	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540617116	chr6:128232164-128232165	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77656645	chr6:128232202-128232203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147177492	chr6:128232203-128232204	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540819691	chr6:128232277-128232278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144234278	chr6:128232287-128232288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532868001	chr6:128232330-128232331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145453491	chr6:128232332-128232333	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563106580	chr6:128232348-128232349	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529611983	chr6:128232381-128232382	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113276985	chr6:128232383-128232384	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34838069	chr6:128232402-128232403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544895057	chr6:128232409-128232410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190512585	chr6:128232441-128232442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562903177	chr6:128232446-128232447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34004072	chr6:128232451-128232452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567954808	chr6:128232481-128232482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528832980	chr6:128232488-128232489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543008326	chr6:128232495-128232496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148590658	chr6:128232496-128232497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142961786	chr6:128232502-128232503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs802708	chr6:128232545-128232546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114886146	chr6:128232683-128232684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375313614	chr6:128232745-128232746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117104105	chr6:128232746-128232747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551713740	chr6:128232783-128232784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536243189	chr6:128232785-128232786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151091692	chr6:128232787-128232788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573583859	chr6:128232825-128232826	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540956919	chr6:128232831-128232832	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577099964	chr6:128232888-128232889	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566212417	chr6:128232902-128232903	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539676781	chr6:128232914-128232915	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180750497	chr6:128232932-128232933	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs802707	chr6:128232934-128232935	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs563398185	chr6:128232953-128232954	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548564229	chr6:128233007-128233008	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575454163	chr6:128233071-128233072	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542634697	chr6:128233086-128233087	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372376143	chr6:128233096-128233097	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528771768	chr6:128233117-128233118	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368437461	chr6:128233137-128233138	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369505862	chr6:128233142-128233143	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs802706	chr6:128233151-128233152	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs9388601	chr6:128233158-128233159	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	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
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128224000-128235600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:128225600-128232800	Weak transcription	Fetal Thymus	thymus
3	chr6:128229800-128232200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:128230000-128233000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:128230000-128235600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:128230400-128232200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr6:128231000-128232800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:128231000-128233600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:128231400-128233200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:128232000-128232400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:128232200-128232800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:128232200-128233000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:128232400-128232800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:128232400-128232800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:128232800-128233200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
16	chr6:128232800-128233200	ZNF genes & repeats	Fetal Thymus	thymus
17	chr6:128232800-128233400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:128232800-128233400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
19	chr6:128232800-128233800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr6:128233000-128233200	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr6:128233000-128233800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:128233000-128234600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:128233200-128233800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:128233200-128234800	Weak transcription	Primary T cells from cord blood	blood
25	chr6:128233200-128235200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:128233200-128238400	Weak transcription	Fetal Thymus	thymus

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