Variant report

Variant	nsv967487
Chromosome Location	chr7:38452736-38456158
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	chr7:38452252..38454426-chr7:38686850..38688641,2	K562	blood:
2	chr7:38451973..38453487-chr7:38456143..38457740,2	K562	blood:

Variant related genes	Relation type
ENSG00000078053	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191243052	chr7:38452739-38452740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182163934	chr7:38452763-38452764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571070045	chr7:38452801-38452802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186799952	chr7:38452843-38452844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192388962	chr7:38452848-38452849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183341987	chr7:38452849-38452850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374087876	chr7:38452863-38452864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188963367	chr7:38452904-38452905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535471322	chr7:38452916-38452917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34008192	chr7:38452972-38452973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555778054	chr7:38452980-38452981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs398004447	chr7:38452981-38452982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572350048	chr7:38452995-38452996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs193067340	chr7:38453007-38453008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146504875	chr7:38453053-38453054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372875372	chr7:38453071-38453072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114300022	chr7:38453194-38453195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150195232	chr7:38453239-38453240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs58351046	chr7:38453248-38453249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113561732	chr7:38453282-38453283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570480215	chr7:38453321-38453322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544060396	chr7:38453337-38453338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116994578	chr7:38453368-38453369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529027891	chr7:38453429-38453430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370964394	chr7:38453438-38453439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141134986	chr7:38453447-38453448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116520445	chr7:38453478-38453479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144911540	chr7:38453517-38453518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185315918	chr7:38453522-38453523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146721106	chr7:38453531-38453532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374557630	chr7:38453583-38453584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530602826	chr7:38453587-38453588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368541080	chr7:38453623-38453624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550401031	chr7:38453630-38453631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73348864	chr7:38453676-38453677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535896365	chr7:38453689-38453690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140363002	chr7:38453699-38453700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116392591	chr7:38453763-38453764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76729501	chr7:38453816-38453817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558469754	chr7:38453832-38453833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189721110	chr7:38453835-38453836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537635227	chr7:38453923-38453924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542801336	chr7:38453929-38453930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574155100	chr7:38453940-38453941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577167467	chr7:38453949-38453950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554829492	chr7:38454007-38454008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191780920	chr7:38454029-38454030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544637196	chr7:38454049-38454050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374799961	chr7:38454057-38454058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113243929	chr7:38454058-38454059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38431600-38489000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:38439000-38483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:38444000-38468600	Weak transcription	Fetal Stomach	stomach
4	chr7:38444800-38467600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:38449400-38458000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:38449600-38454000	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:38450000-38457200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:38451000-38460400	Weak transcription	Aorta	Aorta
9	chr7:38451600-38452800	Enhancers	Fetal Heart	heart
10	chr7:38451600-38454200	Enhancers	Primary B cells from cord blood	blood
11	chr7:38451800-38454200	Enhancers	Primary T cells from cord blood	blood
12	chr7:38452000-38453000	Enhancers	Fetal Thymus	thymus
13	chr7:38452000-38454000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:38452000-38454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:38452000-38454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:38452000-38454200	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:38452200-38452800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:38452200-38453600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:38452200-38453600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:38452400-38453800	Enhancers	Dnd41	blood
21	chr7:38452600-38453600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:38452800-38453200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:38453200-38453800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:38453400-38453600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:38453600-38453800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:38454800-38455400	Enhancers	HUVEC	blood vessel
27	chr7:38454800-38456600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:38455400-38467400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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