Variant report

Variant	esv3404429
Chromosome Location	chr6:74615324-74620322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 220 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528783248	chr6:74615332-74615333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546935156	chr6:74615381-74615382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558389410	chr6:74615452-74615453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571823887	chr6:74615497-74615498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539205076	chr6:74615509-74615510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546601189	chr6:74615599-74615600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564998331	chr6:74615653-74615654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551183344	chr6:74615661-74615662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572070551	chr6:74615666-74615667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1837080	chr6:74615698-74615699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184579580	chr6:74615725-74615726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555007983	chr6:74615727-74615728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573116408	chr6:74615762-74615763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373291838	chr6:74615781-74615782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550809623	chr6:74615805-74615806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375565648	chr6:74615827-74615828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148897057	chr6:74615831-74615832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577847177	chr6:74615849-74615850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544837419	chr6:74615861-74615862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546743697	chr6:74615888-74615889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187497426	chr6:74615901-74615902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542267122	chr6:74615930-74615931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377121823	chr6:74615939-74615940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34818531	chr6:74615941-74615942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570375872	chr6:74615950-74615951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372684344	chr6:74615951-74615952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143627723	chr6:74615956-74615957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191948906	chr6:74616021-74616022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1837081	chr6:74616043-74616044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116229688	chr6:74616066-74616067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532847875	chr6:74616078-74616079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566554791	chr6:74616079-74616080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372662884	chr6:74616136-74616137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569429211	chr6:74616147-74616148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148023407	chr6:74616157-74616158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201607519	chr6:74616180-74616181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111729440	chr6:74616212-74616213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548360993	chr6:74616231-74616232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184087882	chr6:74616237-74616238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9352035	chr6:74616256-74616257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188533372	chr6:74616294-74616295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552921056	chr6:74616303-74616304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145040255	chr6:74616314-74616315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115068961	chr6:74616323-74616324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556739592	chr6:74616327-74616328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575052405	chr6:74616334-74616335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180947660	chr6:74616339-74616340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2917875	chr6:74616342-74616343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111745397	chr6:74616370-74616371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539891084	chr6:74616376-74616377	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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