Variant report

Variant	nsv965013
Chromosome Location	chr5:49975820-49980983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:49976617..49978344-chr5:49983964..49986828,2	MCF-7	breast:
2	chr5:49965470..49967570-chr5:49976528..49979367,2	MCF-7	breast:
3	chr5:49979801..49982370-chr5:49986606..49988193,2	MCF-7	breast:
4	chr5:49973996..49976524-chr5:49985360..49987243,2	MCF-7	breast:
5	chr5:49970649..49973265-chr5:49975299..49977722,2	MCF-7	breast:

Extended variants
information (count: 189 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs375413478	chr5:49975827-49975828	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs544328094	chr5:49975845-49975846	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs561068408	chr5:49975889-49975890	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530177942	chr5:49975963-49975964	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546689746	chr5:49975965-49975966	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs566814252	chr5:49975982-49975983	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs28505342	chr5:49976072-49976073	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs13170746	chr5:49976089-49976090	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375586787	chr5:49976133-49976134	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569505648	chr5:49976147-49976148	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538417953	chr5:49976158-49976159	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182746904	chr5:49976184-49976185	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs146007422	chr5:49976193-49976194	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs533845002	chr5:49976206-49976207	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185859820	chr5:49976293-49976294	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569143810	chr5:49976339-49976340	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576768647	chr5:49976342-49976343	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545814798	chr5:49976420-49976421	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576616891	chr5:49976454-49976455	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs556018229	chr5:49976464-49976465	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112295517	chr5:49976614-49976615	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115541523	chr5:49976661-49976662	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543637126	chr5:49976699-49976700	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191153894	chr5:49976721-49976722	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374202155	chr5:49976737-49976738	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376661117	chr5:49976762-49976763	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529836376	chr5:49976787-49976788	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540720536	chr5:49976797-49976798	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6894874	chr5:49976823-49976824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183827062	chr5:49976835-49976836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11750241	chr5:49976837-49976838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs11739828	chr5:49976902-49976903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs189242568	chr5:49976995-49976996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532004858	chr5:49977029-49977030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548809435	chr5:49977046-49977047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572908096	chr5:49977080-49977081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192500178	chr5:49977092-49977093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368317382	chr5:49977110-49977111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568592734	chr5:49977118-49977119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536160218	chr5:49977124-49977125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533696101	chr5:49977138-49977139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553817071	chr5:49977171-49977172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182737970	chr5:49977181-49977182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539068746	chr5:49977207-49977208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146318926	chr5:49977246-49977247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575944017	chr5:49977259-49977260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541677799	chr5:49977260-49977261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527237072	chr5:49977308-49977309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574387075	chr5:49977453-49977454	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs34155543	chr5:49977454-49977455	Weak transcription Enhancers Active TSS	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:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49964400-49977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:49964400-49982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:49964400-49983400	Weak transcription	Esophagus	oesophagus
4	chr5:49964800-49976200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:49964800-49976600	Weak transcription	NHDF-Ad	bronchial
6	chr5:49964800-49977600	Weak transcription	Brain Anterior Caudate	brain
7	chr5:49964800-49977800	Weak transcription	Fetal Brain Male	brain
8	chr5:49965600-49976400	Weak transcription	HMEC	breast
9	chr5:49965800-49976000	Weak transcription	Fetal Lung	lung
10	chr5:49965800-49976000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:49965800-49982000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:49965800-49983600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:49968400-49977600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:49968600-49976000	Weak transcription	Fetal Stomach	stomach
15	chr5:49968800-49990400	Weak transcription	Small Intestine	intestine
16	chr5:49969000-49980400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:49970200-49977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:49970400-49976200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:49970400-49976200	Weak transcription	Osteobl	bone
20	chr5:49970400-49977800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:49970400-49979800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:49970600-49982600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:49970600-49982600	Weak transcription	Aorta	Aorta
24	chr5:49970800-49976400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:49970800-49978000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:49970800-49979800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:49971400-49980200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr5:49971600-49978600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr5:49971600-49982000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:49972000-49978200	Enhancers	Primary T cells from cord blood	blood
31	chr5:49972600-49980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:49973200-49976600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr5:49973200-49976800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:49973200-49979200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:49973400-49976600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:49973600-49976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:49974000-49976600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:49974200-49976400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:49974200-49977000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:49974200-49979400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:49974400-49976000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr5:49974400-49976200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:49974600-49976600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:49974600-49977200	Enhancers	Dnd41	blood
45	chr5:49974600-49978200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:49975000-49976000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr5:49975000-49979000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:49975200-49976600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:49975200-49980600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:49975400-49976000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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