Variant report

Variant	nsv964851
Chromosome Location	chr5:49945480-49952101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:49949575..49951807-chr5:49954503..49956971,2	MCF-7	breast:
2	chr5:49951637..49953470-chr5:49962458..49964484,2	MCF-7	breast:
3	chr5:49951146..49952897-chr5:49957210..49959408,2	MCF-7	breast:
4	chr5:49951519..49954288-chr5:49991653..49994102,2	MCF-7	breast:
5	chr5:49951565..49954104-chr5:49960060..49962047,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151883	chromatin interactions
ENSG00000271752	chromatin interactions

Extended variants
information (count: 238 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535850738	chr5:49945486-49945487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556102116	chr5:49945527-49945528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35659522	chr5:49945561-49945562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533721835	chr5:49945568-49945569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558937754	chr5:49945613-49945614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534922796	chr5:49945654-49945655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372639388	chr5:49945684-49945685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558302962	chr5:49945726-49945727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200124648	chr5:49945746-49945747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578094692	chr5:49945768-49945769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540902670	chr5:49945783-49945784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184974176	chr5:49945867-49945868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538069708	chr5:49945873-49945874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189105143	chr5:49945886-49945887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559235009	chr5:49945918-49945919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374399433	chr5:49945919-49945920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560549192	chr5:49945932-49945933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7705837	chr5:49945946-49945947	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs192793045	chr5:49946021-49946022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138576190	chr5:49946025-49946026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550298568	chr5:49946098-49946099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7728975	chr5:49946100-49946101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs117986337	chr5:49946116-49946117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549364663	chr5:49946118-49946119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566399446	chr5:49946124-49946125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12653725	chr5:49946128-49946129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568033611	chr5:49946149-49946150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558157009	chr5:49946150-49946151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533871363	chr5:49946161-49946162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553935889	chr5:49946173-49946174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185542044	chr5:49946200-49946201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572112047	chr5:49946203-49946204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537201072	chr5:49946288-49946289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556647470	chr5:49946305-49946306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573364489	chr5:49946342-49946343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149386309	chr5:49946358-49946359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147474325	chr5:49946361-49946362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552575008	chr5:49946365-49946366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570596453	chr5:49946407-49946408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572732854	chr5:49946460-49946461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139892933	chr5:49946492-49946493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539206021	chr5:49946510-49946511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565031795	chr5:49946524-49946525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189278813	chr5:49946586-49946587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544383241	chr5:49946592-49946593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181943197	chr5:49946608-49946609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558628595	chr5:49946620-49946621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529379089	chr5:49946658-49946659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143782694	chr5:49946661-49946662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147327989	chr5:49946751-49946752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49942400-49946000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:49944400-49946800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:49944400-49949200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:49944400-49949400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:49944400-49949600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:49944600-49949600	Weak transcription	Primary T cells from cord blood	blood
7	chr5:49944600-49949600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:49944600-49949800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:49944800-49946800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:49944800-49949400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:49944800-49949600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:49945000-49945600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:49945000-49949400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:49946000-49946200	Enhancers	Fetal Intestine Large	intestine
15	chr5:49946000-49946800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr5:49946000-49949000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:49946800-49949000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:49946800-49949400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:49946800-49949600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:49948000-49948200	Enhancers	Small Intestine	intestine
21	chr5:49948000-49948400	Enhancers	Fetal Intestine Large	intestine
22	chr5:49949000-49949400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:49949000-49951200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:49949200-49951800	Enhancers	Primary B cells from cord blood	blood
25	chr5:49949400-49950200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr5:49949400-49950200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:49949400-49950200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr5:49949400-49950200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:49949400-49950600	Enhancers	GM12878-XiMat	blood
30	chr5:49949400-49951200	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:49949400-49951200	Enhancers	Primary hematopoietic stem cells	blood
32	chr5:49949400-49951600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr5:49949600-49949800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr5:49949600-49950000	Enhancers	Primary T cells from cord blood	blood
35	chr5:49949600-49950000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr5:49949600-49950000	Enhancers	Thymus	Thymus
37	chr5:49949600-49950200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr5:49949600-49950200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:49949600-49951000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr5:49949600-49951000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:49949600-49952800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr5:49949800-49950000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr5:49949800-49950200	Enhancers	Fetal Thymus	thymus
44	chr5:49949800-49950400	Enhancers	Dnd41	blood
45	chr5:49949800-49951000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:49949800-49961600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr5:49950000-49950800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:49950000-49952000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:49950000-49959400	Weak transcription	Primary T cells from cord blood	blood
50	chr5:49950200-49950600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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