Variant report

Variant	nsv981340
Chromosome Location	chr6:120909063-120917558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 292 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145123548	chr6:120909138-120909139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557128088	chr6:120909141-120909142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558458001	chr6:120909163-120909164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570811688	chr6:120909187-120909188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535602029	chr6:120909293-120909294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553031569	chr6:120909310-120909311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539703741	chr6:120909339-120909340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575881204	chr6:120909382-120909383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147598252	chr6:120909410-120909411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541834127	chr6:120909416-120909417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555862188	chr6:120909443-120909444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574861477	chr6:120909456-120909457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191345957	chr6:120909474-120909475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74462776	chr6:120909507-120909508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370343209	chr6:120909544-120909545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140446771	chr6:120909555-120909556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377118904	chr6:120909558-120909559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201485650	chr6:120909573-120909574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532465751	chr6:120909600-120909601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546053146	chr6:120909654-120909655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566297825	chr6:120909666-120909667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1203068	chr6:120909711-120909712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79199515	chr6:120909753-120909754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558449316	chr6:120909755-120909756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183305880	chr6:120909765-120909766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187794573	chr6:120909772-120909773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1767497	chr6:120909823-120909824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9385168	chr6:120909880-120909881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570676581	chr6:120909881-120909882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539766517	chr6:120909885-120909886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534530179	chr6:120909892-120909893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73533887	chr6:120909908-120909909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567035186	chr6:120909914-120909915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80058614	chr6:120909920-120909921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12204216	chr6:120909925-120909926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555472272	chr6:120909985-120909986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377326529	chr6:120910032-120910033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541506760	chr6:120910052-120910053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574465146	chr6:120910074-120910075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142516846	chr6:120910105-120910106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577139900	chr6:120910131-120910132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373799895	chr6:120910169-120910170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535243627	chr6:120910177-120910178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144352123	chr6:120910237-120910238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1203067	chr6:120910242-120910243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559640934	chr6:120910276-120910277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528373070	chr6:120910307-120910308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142592111	chr6:120910328-120910329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10550053	chr6:120910331-120910332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541810853	chr6:120910343-120910344	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	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
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120905600-120909800	Enhancers	Brain Germinal Matrix	brain
2	chr6:120909000-120910000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:120909800-120912000	Weak transcription	Brain Germinal Matrix	brain
4	chr6:120910000-120915400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:120911000-120912600	Enhancers	Fetal Brain Female	brain
6	chr6:120911400-120911600	Enhancers	Fetal Brain Male	brain
7	chr6:120911600-120912400	Weak transcription	Fetal Brain Male	brain
8	chr6:120912000-120913200	Enhancers	Brain Germinal Matrix	brain
9	chr6:120912400-120913600	Enhancers	Fetal Brain Male	brain
10	chr6:120912600-120915200	Weak transcription	Fetal Brain Female	brain
11	chr6:120913200-120914200	Weak transcription	Brain Germinal Matrix	brain
12	chr6:120914200-120914400	Enhancers	Brain Germinal Matrix	brain
13	chr6:120915200-120915400	Enhancers	Fetal Brain Female	brain
14	chr6:120915400-120917400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:120916200-120916600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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