Variant report

Variant	nsv10697
Chromosome Location	chr5:49885405-49887075
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	chr5:49735466..49737250-chr5:49884402..49886909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170571	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553423254	chr5:49885476-49885477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566763579	chr5:49885478-49885479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551808009	chr5:49885486-49885487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs386687878	chr5:49885583-49885584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185755930	chr5:49885602-49885603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559011874	chr5:49885659-49885660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575973892	chr5:49885678-49885679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544903006	chr5:49885685-49885686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555226609	chr5:49885700-49885701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575080820	chr5:49885701-49885702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191063469	chr5:49885732-49885733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183703137	chr5:49885768-49885769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576765075	chr5:49885769-49885770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563971071	chr5:49885775-49885776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545755042	chr5:49885796-49885797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34705234	chr5:49885816-49885817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4101529	chr5:49885818-49885819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs62365312	chr5:49885836-49885837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548076844	chr5:49885847-49885848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6861022	chr5:49885888-49885889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187506389	chr5:49885890-49885891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546783965	chr5:49885942-49885943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566930899	chr5:49885954-49885955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115569256	chr5:49885987-49885988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200265223	chr5:49886127-49886128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs58024967	chr5:49886128-49886129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149962368	chr5:49886129-49886130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs397746900	chr5:49886133-49886134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201901752	chr5:49886181-49886182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60226866	chr5:49886200-49886201	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538583523	chr5:49886219-49886220	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555289912	chr5:49886234-49886235	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575094742	chr5:49886252-49886253	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534355849	chr5:49886267-49886268	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553606537	chr5:49886275-49886276	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576836411	chr5:49886339-49886340	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546181637	chr5:49886344-49886345	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545559440	chr5:49886355-49886356	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565704054	chr5:49886362-49886363	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183181671	chr5:49886368-49886369	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187170979	chr5:49886381-49886382	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149911759	chr5:49886393-49886394	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547697575	chr5:49886439-49886440	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561605191	chr5:49886497-49886498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557777004	chr5:49886520-49886521	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371246797	chr5:49886567-49886568	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs576240712	chr5:49886569-49886570	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527518623	chr5:49886597-49886598	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs13159553	chr5:49886600-49886601	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs564108298	chr5:49886632-49886633	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49876800-49891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:49884800-49886400	Weak transcription	NHEK	skin
3	chr5:49884800-49886800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr5:49884800-49888200	Weak transcription	HMEC	breast
5	chr5:49885200-49886400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:49885600-49887000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:49885600-49887400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:49885600-49888600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:49885600-49888800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:49885600-49889000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:49885600-49890600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:49885600-49890600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr5:49885600-49891400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:49885600-49891400	Enhancers	Dnd41	blood
15	chr5:49885600-49891800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:49885800-49891400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:49885800-49891800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:49886200-49887400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:49886200-49887400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:49886200-49887600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:49886200-49890200	Enhancers	Primary T cells from cord blood	blood
22	chr5:49886200-49890200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr5:49886200-49890400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:49886200-49890600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr5:49886200-49891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:49886200-49891400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:49886400-49886600	Enhancers	NHEK	skin
28	chr5:49886400-49887000	Enhancers	Primary hematopoietic stem cells	blood
29	chr5:49886400-49887200	Enhancers	Osteobl	bone
30	chr5:49886400-49887400	Enhancers	Hela-S3	cervix
31	chr5:49886400-49888600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:49886400-49890800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:49886600-49886800	Enhancers	NHDF-Ad	bronchial
34	chr5:49886600-49887000	Weak transcription	NHEK	skin
35	chr5:49886800-49888400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:49887000-49887200	Enhancers	NHEK	skin
37	chr5:49887000-49887400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:49887000-49888600	Weak transcription	NHDF-Ad	bronchial
39	chr5:49887000-49890200	Weak transcription	Primary hematopoietic stem cells	blood

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