Variant report

Variant	nsv968918
Chromosome Location	chr5:60057231-60058760
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	chr5:59928143..59930570-chr5:60056842..60058406,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185650865	chr5:60057244-60057245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373865180	chr5:60057263-60057264	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535846731	chr5:60057275-60057276	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188565723	chr5:60057282-60057283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6449495	chr5:60057287-60057288	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544848655	chr5:60057377-60057378	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373704754	chr5:60057399-60057400	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369894338	chr5:60057499-60057500	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578085293	chr5:60057520-60057521	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560477455	chr5:60057521-60057522	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6871928	chr5:60057526-60057527	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559139966	chr5:60057552-60057553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192003897	chr5:60057560-60057561	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547776414	chr5:60057571-60057572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184117390	chr5:60057629-60057630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571748980	chr5:60057660-60057661	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113069507	chr5:60057696-60057697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112159307	chr5:60057706-60057707	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17388949	chr5:60057718-60057719	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs550659752	chr5:60057719-60057720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111708011	chr5:60057746-60057747	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202021755	chr5:60057758-60057759	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570634770	chr5:60057761-60057762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368467770	chr5:60057770-60057771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539209939	chr5:60057777-60057778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372130847	chr5:60057781-60057782	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147419589	chr5:60057783-60057784	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138212650	chr5:60057784-60057785	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78738898	chr5:60057788-60057789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75170654	chr5:60057791-60057792	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368246554	chr5:60057809-60057810	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188405855	chr5:60057818-60057819	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111545786	chr5:60057824-60057825	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112329271	chr5:60057825-60057826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111370039	chr5:60057826-60057827	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7733069	chr5:60057836-60057837	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536294702	chr5:60057852-60057853	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6894261	chr5:60057873-60057874	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180922423	chr5:60057875-60057876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558130430	chr5:60057885-60057886	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578128536	chr5:60057891-60057892	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184120875	chr5:60057915-60057916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1563522	chr5:60057932-60057933	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7713586	chr5:60057993-60057994	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570069864	chr5:60057995-60057996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572497793	chr5:60057999-60058000	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77263118	chr5:60058040-60058041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112691410	chr5:60058058-60058059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558746082	chr5:60058074-60058075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147198849	chr5:60058082-60058083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Cancer	21272361	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60040800-60066600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:60044800-60081600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:60044800-60098000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:60045200-60065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:60045200-60084400	Weak transcription	Brain Angular Gyrus	brain
6	chr5:60046000-60061000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:60046200-60065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:60056600-60058000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:60057000-60057600	Strong transcription	Fetal Intestine Large	intestine
10	chr5:60057600-60061200	Weak transcription	Fetal Intestine Large	intestine
11	chr5:60057600-60092200	Weak transcription	Brain Anterior Caudate	brain
12	chr5:60057600-60093200	Weak transcription	Pancreas	Pancrea
13	chr5:60057800-60074800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:60058000-60066200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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