Variant report

Variant	nsv970144
Chromosome Location	chr6:80775545-80779779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139289967	chr6:80775600-80775601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2149082	chr6:80775636-80775637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113543214	chr6:80775653-80775654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3812151	chr6:80775738-80775739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186693041	chr6:80775800-80775801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542817799	chr6:80775802-80775803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552616106	chr6:80775831-80775832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572625823	chr6:80775845-80775846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546297107	chr6:80775895-80775896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571173465	chr6:80775896-80775897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6454142	chr6:80775929-80775930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531223519	chr6:80775955-80775956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544623344	chr6:80775989-80775990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35435921	chr6:80776011-80776012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531975664	chr6:80776067-80776068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190774380	chr6:80776074-80776075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530190753	chr6:80776113-80776114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547240379	chr6:80776114-80776115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566950549	chr6:80776119-80776120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532690683	chr6:80776153-80776154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552596095	chr6:80776167-80776168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377351488	chr6:80776178-80776179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569203050	chr6:80776202-80776203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111318310	chr6:80776253-80776254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538241904	chr6:80776271-80776272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556937083	chr6:80776328-80776329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139598746	chr6:80776353-80776354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183014726	chr6:80776411-80776412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149747404	chr6:80776435-80776436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537275900	chr6:80776441-80776442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186305001	chr6:80776442-80776443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558125785	chr6:80776473-80776474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3812150	chr6:80776485-80776486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145441375	chr6:80776520-80776521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561396964	chr6:80776527-80776528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530455638	chr6:80776537-80776538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540816264	chr6:80776560-80776561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191049072	chr6:80776577-80776578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532650775	chr6:80776578-80776579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567878900	chr6:80776581-80776582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569343108	chr6:80776583-80776584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531573403	chr6:80776621-80776622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113287878	chr6:80776650-80776651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567427404	chr6:80776666-80776667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182910217	chr6:80776684-80776685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116890807	chr6:80776706-80776707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145105279	chr6:80776710-80776711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538447480	chr6:80776724-80776725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187463650	chr6:80776748-80776749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575310871	chr6:80776775-80776776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	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
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
Acute lymphoblastic leukemia	21098271	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80764600-80777200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:80764800-80784400	Weak transcription	Thymus	Thymus
3	chr6:80776400-80777600	Enhancers	Placenta	Placenta
4	chr6:80777200-80777600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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