Variant report

Variant	nsv969420
Chromosome Location	chr6:74991993-74993381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575242833	chr6:74992003-74992004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535923881	chr6:74992004-74992005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554660996	chr6:74992016-74992017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185747197	chr6:74992023-74992024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370372447	chr6:74992028-74992029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540456193	chr6:74992085-74992086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138958576	chr6:74992107-74992108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79015619	chr6:74992123-74992124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116827115	chr6:74992141-74992142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563529360	chr6:74992142-74992143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529034565	chr6:74992143-74992144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113078689	chr6:74992145-74992146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561447119	chr6:74992146-74992147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528592732	chr6:74992240-74992241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367922326	chr6:74992253-74992254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547227625	chr6:74992265-74992266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189076242	chr6:74992292-74992293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193022062	chr6:74992293-74992294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184601381	chr6:74992308-74992309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114420228	chr6:74992322-74992323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566963022	chr6:74992334-74992335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554341184	chr6:74992386-74992387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148223150	chr6:74992415-74992416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370549147	chr6:74992418-74992419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533907382	chr6:74992432-74992433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558773359	chr6:74992448-74992449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577153471	chr6:74992463-74992464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376875328	chr6:74992524-74992525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188960869	chr6:74992535-74992536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570309513	chr6:74992560-74992561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141133374	chr6:74992574-74992575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67076726	chr6:74992577-74992578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543028419	chr6:74992593-74992594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561161277	chr6:74992598-74992599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528556872	chr6:74992599-74992600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540374513	chr6:74992646-74992647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555999536	chr6:74992659-74992660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565090727	chr6:74992748-74992749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532579470	chr6:74992757-74992758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373361469	chr6:74992840-74992841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181369262	chr6:74992857-74992858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150290807	chr6:74992893-74992894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569160876	chr6:74992917-74992918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536618805	chr6:74992918-74992919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372010364	chr6:74992919-74992920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530356742	chr6:74992938-74992939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548152017	chr6:74992977-74992978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78021168	chr6:74993001-74993002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs137940171	chr6:74993004-74993005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80356074	chr6:74993075-74993076	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74988000-74992600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:74992000-74992200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:74992000-74992200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:74992600-74994800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:74993000-74993600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:74993200-74994000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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