Variant report

Variant	nsv980640
Chromosome Location	chr5:43586630-43587841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43583187..43587985-chr5:43588221..43595020,7	K562	blood:
2	chr5:43585747..43587255-chr5:43604652..43606274,2	K562	blood:
3	chr5:43556013..43559876-chr5:43586120..43588801,3	K562	blood:
4	chr5:43555203..43556754-chr5:43587792..43589517,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172239	chromatin interactions
ENSG00000249286	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571447654	chr5:43586695-43586696	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs185296038	chr5:43586725-43586726	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556851941	chr5:43586730-43586731	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373895047	chr5:43586770-43586771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573569432	chr5:43586799-43586800	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112201703	chr5:43586817-43586818	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552906584	chr5:43586821-43586822	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192098214	chr5:43586822-43586823	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs545528194	chr5:43586855-43586856	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147908077	chr5:43586911-43586912	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185027952	chr5:43586954-43586955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568474337	chr5:43587145-43587146	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112436880	chr5:43587146-43587147	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530378481	chr5:43587205-43587206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540918748	chr5:43587230-43587231	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115600729	chr5:43587232-43587233	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528053584	chr5:43587282-43587283	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189361711	chr5:43587300-43587301	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs571219486	chr5:43587314-43587315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs141680162	chr5:43587333-43587334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550313058	chr5:43587379-43587380	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567230492	chr5:43587438-43587439	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs7705166	chr5:43587448-43587449	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs35212482	chr5:43587486-43587487	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs552842664	chr5:43587512-43587513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112566252	chr5:43587537-43587538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs538623759	chr5:43587564-43587565	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs1049702	chr5:43587578-43587579	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs180934241	chr5:43587597-43587598	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370911210	chr5:43587611-43587612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12654258	chr5:43587678-43587679	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113787437	chr5:43587696-43587697	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555243019	chr5:43587705-43587706	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs568698389	chr5:43587734-43587735	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575083125	chr5:43587768-43587769	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540955400	chr5:43587779-43587780	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560607311	chr5:43587783-43587784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs35999035	chr5:43587784-43587785	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528104475	chr5:43587789-43587790	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544649710	chr5:43587818-43587819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs115648704	chr5:43587828-43587829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	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
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43565400-43601800	Weak transcription	Fetal Thymus	thymus
2	chr5:43566200-43590400	Weak transcription	Thymus	Thymus
3	chr5:43567400-43602000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:43568000-43601800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:43568000-43602400	Weak transcription	Pancreas	Pancrea
6	chr5:43568600-43601800	Weak transcription	Fetal Brain Female	brain
7	chr5:43569000-43601400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:43569200-43591800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:43570200-43601800	Weak transcription	Right Ventricle	heart
10	chr5:43572000-43591800	Weak transcription	Aorta	Aorta
11	chr5:43572000-43602400	Weak transcription	Ovary	ovary
12	chr5:43573000-43601800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:43573000-43601800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:43574000-43601800	Weak transcription	Brain Anterior Caudate	brain
15	chr5:43574400-43600800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:43575000-43589200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:43575000-43592400	Weak transcription	Brain Germinal Matrix	brain
18	chr5:43575000-43601400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:43575800-43590800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:43575800-43592800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:43576400-43601400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:43576800-43591600	Weak transcription	GM12878-XiMat	blood
23	chr5:43577200-43601800	Weak transcription	Fetal Stomach	stomach
24	chr5:43577600-43601600	Weak transcription	Primary B cells from cord blood	blood
25	chr5:43579400-43601800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:43582000-43600600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:43582400-43601800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:43582800-43597800	Weak transcription	Liver	Liver
29	chr5:43582800-43601800	Weak transcription	Fetal Intestine Large	intestine
30	chr5:43583000-43591000	Weak transcription	Left Ventricle	heart
31	chr5:43583000-43599800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:43583200-43592200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:43583400-43601600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:43583400-43601800	Weak transcription	Fetal Lung	lung
35	chr5:43583600-43591800	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:43583600-43600600	Weak transcription	Dnd41	blood
37	chr5:43583800-43601800	Weak transcription	Primary T cells from cord blood	blood
38	chr5:43585000-43586800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:43585000-43600600	Weak transcription	K562	blood
40	chr5:43585400-43589000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:43585600-43591800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:43585600-43598200	Weak transcription	Psoas Muscle	Psoas
43	chr5:43585600-43599800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:43586400-43586800	Weak transcription	Fetal Heart	heart
45	chr5:43586800-43587000	Enhancers	Fetal Heart	heart
46	chr5:43586800-43587000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:43587000-43587400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:43587000-43588200	Weak transcription	Fetal Intestine Small	intestine
49	chr5:43587000-43591400	Weak transcription	Fetal Heart	heart
50	chr5:43587400-43587600	Enhancers	Skeletal Muscle Female	skeletal muscle

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