Variant report

Variant	nsv597961
Chromosome Location	chr5:45187918-45193745
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	chr5:45189744..45191464-chr5:45191625..45193258,2	MCF-7	breast:
2	chr5:45189744..45191464-chr5:45191625..45193258,2	MCF-7	breast:

Extended variants
information (count: 197 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4566805	chr5:45187918-45187919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377111657	chr5:45187953-45187954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138417556	chr5:45187972-45187973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554700126	chr5:45187997-45187998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4493682	chr5:45188024-45188025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs191578484	chr5:45188052-45188053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532643016	chr5:45188059-45188060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568170906	chr5:45188151-45188152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111349510	chr5:45188174-45188175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536457444	chr5:45188192-45188193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552937658	chr5:45188213-45188214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75856200	chr5:45188230-45188231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538590741	chr5:45188239-45188240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558854956	chr5:45188245-45188246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575331746	chr5:45188261-45188262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530458125	chr5:45188289-45188290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149299897	chr5:45188290-45188291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183837927	chr5:45188317-45188318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144528721	chr5:45188364-45188365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77469364	chr5:45188425-45188426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374468962	chr5:45188483-45188484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560552852	chr5:45188504-45188505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532727509	chr5:45188536-45188537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74497619	chr5:45188547-45188548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116682123	chr5:45188566-45188567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148065609	chr5:45188582-45188583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548138602	chr5:45188599-45188600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188331944	chr5:45188618-45188619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193026615	chr5:45188641-45188642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534060010	chr5:45188655-45188656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556998290	chr5:45188720-45188721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575280410	chr5:45188749-45188750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114393296	chr5:45188822-45188823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369994225	chr5:45188840-45188841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578015855	chr5:45188842-45188843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76666574	chr5:45188890-45188891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558891831	chr5:45188907-45188908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190519416	chr5:45188925-45188926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542578254	chr5:45188956-45188957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191487230	chr5:45188993-45188994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554653719	chr5:45189038-45189039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537595967	chr5:45189073-45189074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146070551	chr5:45189074-45189075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369815762	chr5:45189084-45189085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557067786	chr5:45189103-45189104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539990139	chr5:45189111-45189112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528324258	chr5:45189113-45189114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140018289	chr5:45189173-45189174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143749033	chr5:45189204-45189205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546332457	chr5:45189209-45189210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	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
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
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45182400-45192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:45184400-45192600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:45189200-45189400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:45189600-45190000	Enhancers	Liver	Liver
5	chr5:45192400-45193200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:45192400-45193400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:45192400-45193400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:45192600-45193400	Enhancers	HUES64 Cell Line	embryonic stem cell

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