Variant report

Variant	esv3439672
Chromosome Location	chr6:92315731-92319129
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	chr6:92319088..92321925-chr6:92341492..92343621,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534220261	chr6:92315743-92315744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187484858	chr6:92315784-92315785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181853778	chr6:92315809-92315810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75146861	chr6:92315826-92315827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146952351	chr6:92315867-92315868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556807835	chr6:92315943-92315944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577103915	chr6:92315944-92315945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114040459	chr6:92316006-92316007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373915223	chr6:92316068-92316069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138159564	chr6:92316070-92316071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2039501	chr6:92316088-92316089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375487353	chr6:92316108-92316109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76559046	chr6:92316120-92316121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75688122	chr6:92316122-92316123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79842729	chr6:92316125-92316126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2039500	chr6:92316225-92316226	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs559712140	chr6:92316260-92316261	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6906361	chr6:92316270-92316271	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542974854	chr6:92316287-92316288	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397886889	chr6:92316288-92316289	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562988783	chr6:92316308-92316309	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562557213	chr6:92316325-92316326	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531504483	chr6:92316326-92316327	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551271893	chr6:92316337-92316338	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138645106	chr6:92316345-92316346	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534285853	chr6:92316416-92316417	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74941459	chr6:92316423-92316424	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35116600	chr6:92316428-92316429	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542738369	chr6:92316455-92316456	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559667203	chr6:92316457-92316458	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4388265	chr6:92316494-92316495	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs79306607	chr6:92316501-92316502	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556791165	chr6:92316513-92316514	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576643313	chr6:92316516-92316517	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201932267	chr6:92316526-92316527	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5878205	chr6:92316528-92316529	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs33949899	chr6:92316529-92316530	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184460058	chr6:92316597-92316598	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369279098	chr6:92316653-92316654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34916142	chr6:92316663-92316664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190154195	chr6:92316714-92316715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577362105	chr6:92316725-92316726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201109095	chr6:92316780-92316781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375800911	chr6:92316781-92316782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539894197	chr6:92316814-92316815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144241024	chr6:92316826-92316827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573266069	chr6:92316834-92316835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568334634	chr6:92316866-92316867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542534675	chr6:92316879-92316880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562836299	chr6:92316985-92316986	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
Systemic lupus erythematosus	17503323	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
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	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
Oral squamous cell carcinoma	17134496	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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92313400-92318200	Weak transcription	Pancreas	Pancrea
2	chr6:92316200-92316600	Active TSS	Liver	Liver
3	chr6:92316200-92316600	Enhancers	HepG2	liver
4	chr6:92318200-92318400	ZNF genes & repeats	Pancreas	Pancrea
5	chr6:92318200-92318600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:92318200-92318600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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