Variant report

Variant	esv3420753
Chromosome Location	chr6:74617824-74622322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529957324	chr6:74617828-74617829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548432990	chr6:74617850-74617851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552172900	chr6:74617854-74617855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534020241	chr6:74617980-74617981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564833521	chr6:74617985-74617986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570603290	chr6:74617993-74617994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191312099	chr6:74618018-74618019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2917879	chr6:74618019-74618020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541261074	chr6:74618040-74618041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574335101	chr6:74618054-74618055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535788670	chr6:74618067-74618068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368404061	chr6:74618181-74618182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150364108	chr6:74618220-74618221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372935288	chr6:74618232-74618233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572626607	chr6:74618251-74618252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182588729	chr6:74618269-74618270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187726710	chr6:74618275-74618276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111484415	chr6:74618297-74618298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140973858	chr6:74618302-74618303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377030613	chr6:74618307-74618308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144763203	chr6:74618318-74618319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200535615	chr6:74618352-74618353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3005528	chr6:74618385-74618386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs117957670	chr6:74618405-74618406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138702919	chr6:74618449-74618450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541046066	chr6:74618460-74618461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192110120	chr6:74618461-74618462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527583876	chr6:74618481-74618482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566781567	chr6:74618501-74618502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183364770	chr6:74618526-74618527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140610344	chr6:74618584-74618585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549867685	chr6:74618619-74618620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3005529	chr6:74618620-74618621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148075300	chr6:74618635-74618636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553469903	chr6:74618651-74618652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3005530	chr6:74618673-74618674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560976349	chr6:74618686-74618687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539738698	chr6:74618740-74618741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3005531	chr6:74618809-74618810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576197463	chr6:74618830-74618831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543535595	chr6:74618850-74618851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187616925	chr6:74618867-74618868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113663640	chr6:74618892-74618893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373516142	chr6:74618896-74618897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541456141	chr6:74618928-74618929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192210654	chr6:74618936-74618937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527585631	chr6:74618983-74618984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569058911	chr6:74619016-74619017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546078381	chr6:74619020-74619021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139363324	chr6:74619025-74619026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74613400-74619400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:74616000-74619400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:74619400-74620000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:74619400-74620200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:74619600-74620000	ZNF genes & repeats	Gastric	stomach

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