Variant report

Variant	esv3471843
Chromosome Location	chr6:74591249-74594097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144092668	chr6:74591262-74591263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572352131	chr6:74591292-74591293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376149505	chr6:74591293-74591294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147336958	chr6:74591296-74591297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558589461	chr6:74591322-74591323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576759629	chr6:74591323-74591324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372308890	chr6:74591331-74591332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148340927	chr6:74591332-74591333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141524175	chr6:74591337-74591338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529832626	chr6:74591352-74591353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375558127	chr6:74591389-74591390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551128261	chr6:74591393-74591394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560149749	chr6:74591402-74591403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13193410	chr6:74591411-74591412	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575593792	chr6:74591432-74591433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112399030	chr6:74591454-74591455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139524670	chr6:74591472-74591473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7741410	chr6:74591483-74591484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143303343	chr6:74591624-74591625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568678907	chr6:74591679-74591680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535998407	chr6:74591680-74591681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553995127	chr6:74591688-74591689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527360301	chr6:74591717-74591718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566127766	chr6:74591745-74591746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186979194	chr6:74591765-74591766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557755668	chr6:74591783-74591784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12523989	chr6:74591808-74591809	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544143725	chr6:74591828-74591829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529401269	chr6:74591863-74591864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547531776	chr6:74591876-74591877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1370439	chr6:74591885-74591886	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191760294	chr6:74591891-74591892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533402333	chr6:74591952-74591953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560006975	chr6:74591991-74591992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76114631	chr6:74591992-74591993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371343663	chr6:74592021-74592022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183140295	chr6:74592022-74592023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564109417	chr6:74592043-74592044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200268224	chr6:74592063-74592064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187073956	chr6:74592199-74592200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550498677	chr6:74592204-74592205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1437573	chr6:74592225-74592226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76616953	chr6:74592248-74592249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375989746	chr6:74592297-74592298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537323590	chr6:74592355-74592356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548001021	chr6:74592369-74592370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191567607	chr6:74592375-74592376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539966728	chr6:74592387-74592388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139140774	chr6:74592445-74592446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569726146	chr6:74592631-74592632	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74589400-74592600	Weak transcription	Fetal Kidney	kidney
2	chr6:74591200-74592000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:74592600-74593000	Enhancers	Fetal Kidney	kidney
4	chr6:74593000-74597000	Weak transcription	Fetal Kidney	kidney

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