Variant report

Variant	nsv966633
Chromosome Location	chr6:71468993-71474876
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	chr6:71459093..71461708-chr6:71469200..71471792,2	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs555816548	chr6:71469007-71469008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77277460	chr6:71469020-71469021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144268259	chr6:71469039-71469040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116912111	chr6:71469072-71469073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369411302	chr6:71469073-71469074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551921571	chr6:71469085-71469086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571743057	chr6:71469098-71469099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146129784	chr6:71469111-71469112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554123030	chr6:71469129-71469130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143243299	chr6:71469171-71469172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528819153	chr6:71469174-71469175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573896216	chr6:71469191-71469192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576745183	chr6:71469245-71469246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536546938	chr6:71469259-71469260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555991249	chr6:71469274-71469275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575837872	chr6:71469284-71469285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553893500	chr6:71469290-71469291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192030912	chr6:71469319-71469320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140112577	chr6:71469347-71469348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551943014	chr6:71469402-71469403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572085154	chr6:71469420-71469421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540703788	chr6:71469427-71469428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571700600	chr6:71469464-71469465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143910636	chr6:71469501-71469502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529606280	chr6:71469557-71469558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543353449	chr6:71469614-71469615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563142247	chr6:71469637-71469638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531964963	chr6:71469684-71469685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7753170	chr6:71469694-71469695	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571806314	chr6:71469704-71469705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386702513	chr6:71469748-71469749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527779534	chr6:71469776-71469777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573064793	chr6:71469781-71469782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183512938	chr6:71469840-71469841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188412614	chr6:71469907-71469908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191622505	chr6:71469953-71469954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371151299	chr6:71469968-71469969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540185709	chr6:71469974-71469975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111895488	chr6:71470005-71470006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140603750	chr6:71470010-71470011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545945095	chr6:71470011-71470012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577147388	chr6:71470044-71470045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373799234	chr6:71470129-71470130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149677752	chr6:71470140-71470141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538473776	chr6:71470195-71470196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544319221	chr6:71470207-71470208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376756462	chr6:71470325-71470326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558313827	chr6:71470327-71470328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186733038	chr6:71470382-71470383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541117221	chr6:71470450-71470451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Gastrointestinal stromal cancer	20818650	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
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71428200-71476400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:71435800-71477600	Weak transcription	HSMM	muscle
3	chr6:71436200-71470200	Weak transcription	NHDF-Ad	bronchial
4	chr6:71438400-71474000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:71439600-71474800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:71440400-71488800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:71441800-71474200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:71443200-71488800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:71444800-71523600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:71445200-71482200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:71445600-71474000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:71447800-71500600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:71451400-71483200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:71451800-71473600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:71451800-71474800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:71451800-71480200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:71451800-71481000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:71451800-71488200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:71451800-71488400	Weak transcription	Pancreas	Pancrea
20	chr6:71452000-71473600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:71452600-71473400	Weak transcription	Primary T cells from cord blood	blood
22	chr6:71453000-71489800	Weak transcription	Psoas Muscle	Psoas
23	chr6:71460200-71480200	Weak transcription	Fetal Intestine Large	intestine
24	chr6:71461400-71481000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:71462400-71474000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:71463200-71492600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:71463400-71488200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:71464400-71473600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:71464800-71474600	Weak transcription	Fetal Thymus	thymus
30	chr6:71465800-71488200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:71466200-71474400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr6:71466200-71476400	Weak transcription	Fetal Brain Female	brain
33	chr6:71466200-71485800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:71466200-71488400	Weak transcription	Aorta	Aorta
35	chr6:71466400-71473600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:71466400-71473600	Weak transcription	Adipose Nuclei	Adipose
37	chr6:71466400-71473800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:71466400-71473800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:71466400-71473800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:71466400-71476800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:71466400-71480200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:71466400-71481600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:71466400-71483400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:71466400-71487600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:71466400-71493200	Weak transcription	Dnd41	blood
46	chr6:71466400-71494800	Weak transcription	Small Intestine	intestine
47	chr6:71466400-71508800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:71466600-71471600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:71466600-71473000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:71466600-71473400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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