Variant report

Variant	nsv819124
Chromosome Location	chr5:49989212-49993721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:49991654..49993183-chr5:49998534..50000135,2	MCF-7	breast:
2	chr5:49989186..49991048-chr5:49992537..49995314,2	MCF-7	breast:
3	chr5:49951519..49954288-chr5:49991653..49994102,2	MCF-7	breast:
4	chr5:49989186..49991048-chr5:49992537..49995314,2	MCF-7	breast:
5	chr5:49991835..49994360-chr5:50001240..50003912,3	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552225432	chr5:49989216-49989217	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576125120	chr5:49989271-49989272	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572062879	chr5:49989293-49989294	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72753763	chr5:49989299-49989300	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111973260	chr5:49989326-49989327	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537866304	chr5:49989357-49989358	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554230357	chr5:49989391-49989392	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35956568	chr5:49989408-49989409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397883970	chr5:49989412-49989413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201369036	chr5:49989413-49989414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574682126	chr5:49989450-49989451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371359154	chr5:49989467-49989468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533834871	chr5:49989501-49989502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201713074	chr5:49989537-49989538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192984067	chr5:49989560-49989561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151098996	chr5:49989602-49989603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114635694	chr5:49989670-49989671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12055210	chr5:49989701-49989702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs7726225	chr5:49989733-49989734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs183980197	chr5:49989775-49989776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544597043	chr5:49989793-49989794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561122313	chr5:49989812-49989813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547364298	chr5:49989828-49989829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188373110	chr5:49989837-49989838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547297666	chr5:49989892-49989893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139845409	chr5:49989906-49989907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571900826	chr5:49989929-49989930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191734875	chr5:49990124-49990125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566506000	chr5:49990211-49990212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367833175	chr5:49990246-49990247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6862899	chr5:49990295-49990296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370240572	chr5:49990306-49990307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6862932	chr5:49990339-49990340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537499814	chr5:49990345-49990346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183513476	chr5:49990367-49990368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567711045	chr5:49990418-49990419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533870595	chr5:49990443-49990444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144922305	chr5:49990453-49990454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563990070	chr5:49990469-49990470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532979626	chr5:49990505-49990506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553628779	chr5:49990562-49990563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570386214	chr5:49990583-49990584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555671694	chr5:49990639-49990640	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140896406	chr5:49990646-49990647	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556037521	chr5:49990732-49990733	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189269749	chr5:49990742-49990743	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544369688	chr5:49990790-49990791	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72753764	chr5:49990840-49990841	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10043477	chr5:49990875-49990876	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs569735767	chr5:49990881-49990882	Weak transcription Enhancers Genic 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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49968800-49990400	Weak transcription	Small Intestine	intestine
2	chr5:49976800-50000000	Weak transcription	Fetal Stomach	stomach
3	chr5:49977800-49990600	Weak transcription	Pancreas	Pancrea
4	chr5:49978200-49995000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:49979000-49995200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:49979400-50006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:49980800-49995000	Weak transcription	Thymus	Thymus
8	chr5:49981400-49992600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:49982600-49992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:49982800-49997000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:49983000-49998800	Weak transcription	Lung	lung
12	chr5:49983200-49994200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr5:49983400-50006800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:49986000-50006600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:49986800-49989800	Weak transcription	Fetal Intestine Large	intestine
16	chr5:49987000-49989400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:49987200-49989800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:49987200-49993200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:49987200-49994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:49987400-49989400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:49987400-49994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:49987400-49995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:49987600-49990600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:49987600-49991000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:49987600-49991800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:49987600-49995000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:49987600-50001600	Weak transcription	Dnd41	blood
28	chr5:49987800-49990000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:49987800-49990200	Enhancers	GM12878-XiMat	blood
30	chr5:49987800-49990600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:49987800-49995000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:49987800-49998200	Weak transcription	Primary B cells from cord blood	blood
33	chr5:49987800-49998800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:49988000-49989600	Enhancers	Primary T cells from cord blood	blood
35	chr5:49988000-49995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:49988200-49992400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr5:49988400-49989400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:49988400-49991200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:49988600-49991400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr5:49988800-49989400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:49989000-49989400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr5:49989000-49991000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:49989000-49997600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:49989200-49990000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr5:49989200-49990200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:49989200-49990400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:49989200-49998000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:49989400-49989600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr5:49989400-49990400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr5:49989400-49990600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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