Variant report

Variant	nsv966656
Chromosome Location	chr6:121458378-121463465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121452531..121454187-chr6:121456361..121459088,2	K562	blood:
2	chr6:121459351..121460146-chr6:121508572..121509211,2	MCF-7	breast:

Extended variants
information (count: 184 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs375010600	chr6:121458378-121458379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150055397	chr6:121458388-121458389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57850926	chr6:121458423-121458424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532763028	chr6:121458428-121458429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145431899	chr6:121458479-121458480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538661210	chr6:121458483-121458484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559253688	chr6:121458588-121458589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372252362	chr6:121458625-121458626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75483799	chr6:121458641-121458642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115755990	chr6:121458665-121458666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73768927	chr6:121458698-121458699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34334628	chr6:121458709-121458710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28712278	chr6:121458715-121458716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577548976	chr6:121458728-121458729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73768928	chr6:121458730-121458731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374503799	chr6:121458769-121458770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568848909	chr6:121458771-121458772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188266199	chr6:121458776-121458777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192792205	chr6:121458799-121458800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576777751	chr6:121458832-121458833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545805241	chr6:121458936-121458937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74663826	chr6:121458940-121458941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143540486	chr6:121458942-121458943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs976611	chr6:121458944-121458945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374776761	chr6:121458948-121458949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184433178	chr6:121458970-121458971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111602902	chr6:121458980-121458981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549874013	chr6:121458989-121458990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2860139	chr6:121458990-121458991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188415726	chr6:121459004-121459005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192446061	chr6:121459010-121459011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548319288	chr6:121459064-121459065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566340543	chr6:121459068-121459069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6926756	chr6:121459125-121459126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114144540	chr6:121459127-121459128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555256854	chr6:121459140-121459141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568530414	chr6:121459154-121459155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78916036	chr6:121459248-121459249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184993898	chr6:121459251-121459252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188915972	chr6:121459302-121459303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113819944	chr6:121459316-121459317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545791098	chr6:121459417-121459418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552979945	chr6:121459483-121459484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572289951	chr6:121459524-121459525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371234811	chr6:121459549-121459550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181935640	chr6:121459569-121459570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6911478	chr6:121459624-121459625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186968663	chr6:121459653-121459654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146794323	chr6:121459676-121459677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543682469	chr6:121459692-121459693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121446800-121464600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:121447000-121463200	Weak transcription	Ovary	ovary
3	chr6:121447200-121463000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:121447200-121463200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:121447200-121465000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:121447200-121473800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:121447200-121474200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:121447200-121475000	Weak transcription	Primary B cells from cord blood	blood
9	chr6:121447400-121474200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:121447600-121473200	Weak transcription	Primary T cells from cord blood	blood
11	chr6:121447800-121465000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:121459400-121464400	Weak transcription	HSMM	muscle
13	chr6:121460600-121463200	Weak transcription	Fetal Stomach	stomach
14	chr6:121462000-121462200	Weak transcription	Dnd41	blood
15	chr6:121462400-121464200	ZNF genes & repeats	Dnd41	blood
16	chr6:121462600-121463200	Weak transcription	Gastric	stomach
17	chr6:121462800-121463600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:121463000-121463200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr6:121463000-121463200	Weak transcription	Aorta	Aorta
20	chr6:121463200-121463400	ZNF genes & repeats	Fetal Stomach	stomach
21	chr6:121463200-121463400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
22	chr6:121463200-121463600	ZNF genes & repeats	Gastric	stomach
23	chr6:121463200-121463600	ZNF genes & repeats	Ovary	ovary
24	chr6:121463400-121469600	Weak transcription	Fetal Stomach	stomach

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