Variant report

Variant	nsv819667
Chromosome Location	chr5:37545019-37547142
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	chr5:37543508..37545182-chr5:37552537..37554107,2	K562	blood:
2	chr5:37541266..37543534-chr5:37545440..37547559,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372806602	chr5:37545039-37545040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199639228	chr5:37545162-37545163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185716260	chr5:37545198-37545199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148546067	chr5:37545310-37545311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376092860	chr5:37545338-37545339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142856185	chr5:37545356-37545357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560185954	chr5:37545367-37545368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572346851	chr5:37545406-37545407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545663852	chr5:37545412-37545413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564334644	chr5:37545458-37545459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529385084	chr5:37545534-37545535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188962340	chr5:37545540-37545541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564139729	chr5:37545552-37545553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74396669	chr5:37545564-37545565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113470000	chr5:37545643-37545644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111588191	chr5:37545649-37545650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181273320	chr5:37545688-37545689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs654327	chr5:37545693-37545694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186734590	chr5:37545770-37545771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140032312	chr5:37545774-37545775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535054973	chr5:37545904-37545905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369645568	chr5:37545918-37545919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6881383	chr5:37545999-37546000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570248577	chr5:37546020-37546021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190725096	chr5:37546036-37546037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555846097	chr5:37546068-37546069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567864459	chr5:37546106-37546107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143451647	chr5:37546113-37546114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553766042	chr5:37546194-37546195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572225730	chr5:37546222-37546223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568150779	chr5:37546224-37546225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546100282	chr5:37546233-37546234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557627033	chr5:37546314-37546315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576307232	chr5:37546320-37546321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182965847	chr5:37546330-37546331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112853854	chr5:37546335-37546336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114083853	chr5:37546364-37546365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374684971	chr5:37546370-37546371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562152811	chr5:37546382-37546383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185399870	chr5:37546390-37546391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190899879	chr5:37546447-37546448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548338254	chr5:37546463-37546464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183401940	chr5:37546474-37546475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376545793	chr5:37546477-37546478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187366042	chr5:37546519-37546520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557058298	chr5:37546570-37546571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193199808	chr5:37546595-37546596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576894953	chr5:37546606-37546607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570106748	chr5:37546608-37546609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150804998	chr5:37546619-37546620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37489000-37548400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr5:37519800-37553600	Weak transcription	Left Ventricle	heart
3	chr5:37523800-37553400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:37533400-37546000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:37534200-37546000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:37534400-37550000	Weak transcription	Primary B cells from cord blood	blood
7	chr5:37534400-37551400	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:37534400-37552200	Weak transcription	Fetal Stomach	stomach
9	chr5:37534400-37552600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:37534400-37554600	Weak transcription	Aorta	Aorta
11	chr5:37534400-37554800	Weak transcription	Lung	lung
12	chr5:37534400-37561600	Weak transcription	HSMMtube	muscle
13	chr5:37534400-37567800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:37534400-37573000	Weak transcription	Primary T cells from cord blood	blood
15	chr5:37534800-37554600	Weak transcription	Fetal Intestine Small	intestine
16	chr5:37539200-37548800	Weak transcription	HSMM	muscle
17	chr5:37539600-37552200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:37539800-37550000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:37540000-37621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:37541800-37552200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:37543200-37554000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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