Variant report

Variant	esv3434776
Chromosome Location	chr6:131702620-131703100
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	chr6:131698297..131700688-chr6:131701676..131704606,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34488698	chr6:131702648-131702649	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397798045	chr6:131702672-131702673	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76971478	chr6:131702779-131702780	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58533896	chr6:131702787-131702788	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568827215	chr6:131702818-131702819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566317933	chr6:131702842-131702843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529971644	chr6:131702864-131702865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547957629	chr6:131702926-131702927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112590142	chr6:131702929-131702930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563676252	chr6:131702937-131702938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147160505	chr6:131702985-131702986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370379466	chr6:131703003-131703004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs536944365	chr6:131703014-131703015	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs558375508	chr6:131703032-131703033	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs7739655	chr6:131703056-131703057	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs537467175	chr6:131703058-131703059	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs58773205	chr6:131703060-131703061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140370831	chr6:131703084-131703085	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131687600-131705800	Weak transcription	Gastric	stomach
2	chr6:131689000-131705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:131690000-131711200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:131690200-131704400	Weak transcription	Primary T cells from cord blood	blood
5	chr6:131700800-131706400	Enhancers	HSMMtube	muscle
6	chr6:131701600-131702800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:131701600-131708800	Weak transcription	Osteobl	bone
8	chr6:131701800-131702800	Enhancers	Primary B cells from peripheral blood	blood
9	chr6:131701800-131705200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:131701800-131712400	Enhancers	Fetal Brain Male	brain
11	chr6:131702000-131703000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:131702000-131703000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr6:131702000-131703200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:131702000-131705000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:131702000-131705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:131702000-131705400	Enhancers	Fetal Muscle Leg	muscle
17	chr6:131702000-131705800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:131702200-131704000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:131702400-131702800	Enhancers	NHDF-Ad	bronchial
20	chr6:131702400-131703000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:131702400-131703000	Enhancers	Ovary	ovary
22	chr6:131702400-131703000	Enhancers	Spleen	Spleen
23	chr6:131702400-131703200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:131702400-131703200	Enhancers	Lung	lung
25	chr6:131702400-131704000	Enhancers	Brain Angular Gyrus	brain
26	chr6:131702400-131705000	Enhancers	Fetal Lung	lung
27	chr6:131702400-131705200	Enhancers	Fetal Brain Female	brain
28	chr6:131702400-131705800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:131702600-131702800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:131702600-131702800	Weak transcription	Aorta	Aorta
31	chr6:131702600-131703200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:131702600-131703200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:131702600-131703400	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:131702600-131703600	Weak transcription	Brain Germinal Matrix	brain
35	chr6:131702600-131704000	Enhancers	Fetal Stomach	stomach
36	chr6:131702600-131704200	Enhancers	Brain Hippocampus Middle	brain
37	chr6:131702600-131704200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:131702600-131704800	Weak transcription	HSMM	muscle
39	chr6:131702800-131703000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:131702800-131703000	Enhancers	Aorta	Aorta
41	chr6:131702800-131703000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr6:131702800-131703400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:131702800-131704800	Weak transcription	NHDF-Ad	bronchial
44	chr6:131702800-131705400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:131703000-131703200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:131703000-131703800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:131703000-131704000	Weak transcription	Spleen	Spleen
48	chr6:131703000-131704600	Enhancers	Psoas Muscle	Psoas

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