Variant report

Variant	nsv965766
Chromosome Location	chr6:131603694-131605067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	AKAP7	hsa-miR-375	chr6:131604183-131604206
2	AKAP7	hsa-miR-375	chr6:131604029-131604050

Extended variants
information (count: 52 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375395132	chr6:131603757-131603758	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147099376	chr6:131603773-131603774	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570569683	chr6:131603774-131603775	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531194822	chr6:131603837-131603838	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192409869	chr6:131603858-131603859	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34455247	chr6:131603882-131603883	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9492891	chr6:131603942-131603943	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569544522	chr6:131604012-131604013	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536962621	chr6:131604026-131604027	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572930908	chr6:131604031-131604032	Enhancers Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
11	rs555161255	chr6:131604042-131604043	Enhancers Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
12	rs539970663	chr6:131604050-131604051	Enhancers Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
13	rs138532059	chr6:131604060-131604061	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80210521	chr6:131604112-131604113	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182310753	chr6:131604154-131604155	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535353045	chr6:131604164-131604165	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186621319	chr6:131604206-131604207	Enhancers Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
18	rs537826473	chr6:131604221-131604222	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556158440	chr6:131604223-131604224	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142024316	chr6:131604277-131604278	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374029990	chr6:131604298-131604299	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541728595	chr6:131604324-131604325	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3756774	chr6:131604326-131604327	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79946280	chr6:131604384-131604385	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150277088	chr6:131604397-131604398	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117216982	chr6:131604431-131604432	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114629896	chr6:131604443-131604444	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193003697	chr6:131604509-131604510	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369499528	chr6:131604532-131604533	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184777664	chr6:131604549-131604550	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549477738	chr6:131604729-131604730	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138363427	chr6:131604733-131604734	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189683019	chr6:131604738-131604739	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149247594	chr6:131604747-131604748	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529213034	chr6:131604759-131604760	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542501522	chr6:131604794-131604795	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539777353	chr6:131604807-131604808	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369636106	chr6:131604809-131604810	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6937607	chr6:131604844-131604845	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs534115450	chr6:131604870-131604871	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146212208	chr6:131604904-131604905	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530926010	chr6:131604917-131604918	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570827101	chr6:131604920-131604921	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538350122	chr6:131604930-131604931	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546245845	chr6:131604974-131604975	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67873624	chr6:131604975-131604976	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10684976	chr6:131604977-131604978	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192929796	chr6:131604998-131604999	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184414426	chr6:131605014-131605015	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200598542	chr6:131605051-131605052	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131571800-131614400	Weak transcription	Gastric	stomach
2	chr6:131572200-131613000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:131573600-131610400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:131580600-131606000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:131580800-131605000	Weak transcription	Fetal Heart	heart
6	chr6:131587400-131614400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:131590800-131610200	Weak transcription	Fetal Stomach	stomach
8	chr6:131591000-131614800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:131591400-131610600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:131597200-131613200	Weak transcription	Ovary	ovary
11	chr6:131601200-131612000	Weak transcription	HSMMtube	muscle
12	chr6:131601400-131604400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:131601600-131603800	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:131601600-131604200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:131601800-131604800	Weak transcription	Pancreas	Pancrea
16	chr6:131602400-131603800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:131602400-131603800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr6:131602400-131603800	Enhancers	Small Intestine	intestine
19	chr6:131602400-131607000	Enhancers	Fetal Intestine Large	intestine
20	chr6:131602600-131605200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:131602800-131605000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:131602800-131606400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr6:131602800-131612800	Weak transcription	HepG2	liver
24	chr6:131602800-131613200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:131603000-131603800	Enhancers	Brain Substantia Nigra	brain
26	chr6:131603000-131604000	Enhancers	Brain Angular Gyrus	brain
27	chr6:131603000-131604000	Enhancers	Brain Cingulate Gyrus	brain
28	chr6:131603000-131604400	Enhancers	Liver	Liver
29	chr6:131603000-131605000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:131603000-131605200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:131603000-131606000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:131603000-131606000	Weak transcription	Fetal Brain Female	brain
33	chr6:131603000-131606200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:131603200-131603800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:131603200-131603800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:131603200-131603800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:131603200-131604000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:131603200-131604000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr6:131603200-131604200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:131603200-131604200	Enhancers	Brain Hippocampus Middle	brain
41	chr6:131603200-131604800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:131603200-131604800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:131603200-131604800	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:131603200-131605000	Enhancers	Fetal Intestine Small	intestine
45	chr6:131603200-131605400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr6:131603200-131605600	Enhancers	Brain Anterior Caudate	brain
47	chr6:131603200-131606000	Weak transcription	Aorta	Aorta
48	chr6:131603200-131606400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr6:131603200-131606400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr6:131603200-131607800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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