Variant report

Variant	nsv521403
Chromosome Location	chr6:102114780-102116069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9485528	chr6:102114780-102114781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376970237	chr6:102114859-102114860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576399910	chr6:102114918-102114919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543717255	chr6:102114953-102114954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145235070	chr6:102114973-102114974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533421253	chr6:102114982-102114983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151020917	chr6:102115032-102115033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140861746	chr6:102115051-102115052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149667743	chr6:102115052-102115053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185431794	chr6:102115068-102115069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545774895	chr6:102115087-102115088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545107321	chr6:102115100-102115101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376264693	chr6:102115103-102115104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189203167	chr6:102115184-102115185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548753113	chr6:102115195-102115196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567544588	chr6:102115199-102115200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192861177	chr6:102115207-102115208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546369650	chr6:102115226-102115227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141699008	chr6:102115299-102115300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571131065	chr6:102115303-102115304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539513789	chr6:102115318-102115319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558241418	chr6:102115325-102115326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569904293	chr6:102115440-102115441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375168864	chr6:102115445-102115446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537449380	chr6:102115469-102115470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555517367	chr6:102115524-102115525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145446428	chr6:102115591-102115592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541772351	chr6:102115595-102115596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553573588	chr6:102115616-102115617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140226051	chr6:102115685-102115686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145375019	chr6:102115698-102115699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185473884	chr6:102115719-102115720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575289658	chr6:102115726-102115727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542594957	chr6:102115742-102115743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188646335	chr6:102115769-102115770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181121334	chr6:102115799-102115800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369218473	chr6:102115810-102115811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546506729	chr6:102115818-102115819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17062280	chr6:102115820-102115821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140685500	chr6:102115822-102115823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532606256	chr6:102115835-102115836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543481819	chr6:102115839-102115840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550549186	chr6:102115925-102115926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143740527	chr6:102115981-102115982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537182400	chr6:102116009-102116010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7739084	chr6:102116069-102116070	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:111)

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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102113600-102114800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:102113600-102117000	Enhancers	HMEC	breast
3	chr6:102113600-102117600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:102113800-102114800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:102113800-102114800	Enhancers	NH-A	brain
6	chr6:102114000-102114800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:102114000-102114800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:102114000-102114800	Enhancers	Hela-S3	cervix
9	chr6:102114000-102116800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:102114000-102117000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:102114000-102117000	Enhancers	NHEK	skin
12	chr6:102114600-102121600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:102114800-102116000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:102114800-102116200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:102116000-102116800	Enhancers	Muscle Satellite Cultured Cells	--

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