Variant report

Variant	nsv965012
Chromosome Location	chr5:49973410-49975820
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	chr5:49973996..49976524-chr5:49985360..49987243,2	MCF-7	breast:
2	chr5:49970649..49973265-chr5:49975299..49977722,2	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186639211	chr5:49973449-49973450	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs550654176	chr5:49973457-49973458	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369778760	chr5:49973463-49973464	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373076851	chr5:49973539-49973540	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544776137	chr5:49973543-49973544	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs191993797	chr5:49973584-49973585	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530506662	chr5:49973613-49973614	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550921571	chr5:49973663-49973664	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs117110787	chr5:49973682-49973683	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559535775	chr5:49973696-49973697	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548075251	chr5:49973758-49973759	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs34570578	chr5:49973770-49973771	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529983900	chr5:49973812-49973813	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546827667	chr5:49973854-49973855	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182629334	chr5:49973859-49973860	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562432716	chr5:49973879-49973880	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185869395	chr5:49973974-49973975	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189844138	chr5:49974031-49974032	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs7723361	chr5:49974032-49974033	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571648641	chr5:49974049-49974050	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537022318	chr5:49974050-49974051	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs556906934	chr5:49974095-49974096	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12514550	chr5:49974176-49974177	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542870687	chr5:49974177-49974178	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs373664745	chr5:49974218-49974219	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144618724	chr5:49974275-49974276	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113166709	chr5:49974304-49974305	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548185671	chr5:49974315-49974316	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs73752754	chr5:49974365-49974366	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530778373	chr5:49974381-49974382	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545125605	chr5:49974424-49974425	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs564809520	chr5:49974425-49974426	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs530593309	chr5:49974429-49974430	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544242582	chr5:49974442-49974443	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs531033360	chr5:49974454-49974455	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560828090	chr5:49974465-49974466	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs193041774	chr5:49974507-49974508	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546573333	chr5:49974513-49974514	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs560335035	chr5:49974527-49974528	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs56670602	chr5:49974605-49974606	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs551879380	chr5:49974632-49974633	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184156362	chr5:49974634-49974635	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs188301770	chr5:49974724-49974725	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs193194636	chr5:49974727-49974728	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567320395	chr5:49974739-49974740	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570884678	chr5:49974766-49974767	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs536591722	chr5:49974767-49974768	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs4600082	chr5:49974783-49974784	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112032045	chr5:49974819-49974820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183977042	chr5:49974849-49974850	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49964400-49975400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:49964400-49977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:49964400-49982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:49964400-49983400	Weak transcription	Esophagus	oesophagus
5	chr5:49964800-49976200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:49964800-49976600	Weak transcription	NHDF-Ad	bronchial
7	chr5:49964800-49977600	Weak transcription	Brain Anterior Caudate	brain
8	chr5:49964800-49977800	Weak transcription	Fetal Brain Male	brain
9	chr5:49965600-49976400	Weak transcription	HMEC	breast
10	chr5:49965800-49973800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:49965800-49976000	Weak transcription	Fetal Lung	lung
12	chr5:49965800-49976000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:49965800-49982000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:49965800-49983600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:49966000-49975400	Weak transcription	NHEK	skin
16	chr5:49968400-49974600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:49968400-49977600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:49968600-49976000	Weak transcription	Fetal Stomach	stomach
19	chr5:49968800-49974600	Weak transcription	Spleen	Spleen
20	chr5:49968800-49975600	Weak transcription	Primary B cells from cord blood	blood
21	chr5:49968800-49990400	Weak transcription	Small Intestine	intestine
22	chr5:49969000-49980400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:49969400-49974400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:49970200-49974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:49970200-49974400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:49970200-49977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:49970400-49974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:49970400-49976200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:49970400-49976200	Weak transcription	Osteobl	bone
30	chr5:49970400-49977800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:49970400-49979800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:49970600-49974200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:49970600-49982600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:49970600-49982600	Weak transcription	Aorta	Aorta
35	chr5:49970800-49976400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:49970800-49978000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr5:49970800-49979800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:49971200-49975800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:49971400-49975000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:49971400-49980200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr5:49971600-49975400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr5:49971600-49978600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr5:49971600-49982000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:49972000-49978200	Enhancers	Primary T cells from cord blood	blood
45	chr5:49972200-49975600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:49972600-49973600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:49972600-49973600	Enhancers	Dnd41	blood
48	chr5:49972600-49974600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:49972600-49980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:49973000-49973600	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links