Variant report

Variant	nsv968853
Chromosome Location	chr5:116012769-116014018
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	chr5:116013029..116014668-chr5:116015012..116017658,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147297955	chr5:116012814-116012815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558426127	chr5:116012815-116012816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184458310	chr5:116012869-116012870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530509494	chr5:116012912-116012913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138763459	chr5:116012953-116012954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570533311	chr5:116012967-116012968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533338821	chr5:116013005-116013006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142743782	chr5:116013037-116013038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2964666	chr5:116013043-116013044	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536184141	chr5:116013047-116013048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147359543	chr5:116013059-116013060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569315109	chr5:116013075-116013076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77256305	chr5:116013085-116013086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540915275	chr5:116013147-116013148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557941675	chr5:116013149-116013150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188841382	chr5:116013154-116013155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545663413	chr5:116013211-116013212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552775443	chr5:116013212-116013213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559664514	chr5:116013215-116013216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572795757	chr5:116013228-116013229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148395489	chr5:116013242-116013243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561654028	chr5:116013271-116013272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530377409	chr5:116013274-116013275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115624420	chr5:116013287-116013288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142706856	chr5:116013301-116013302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571574747	chr5:116013325-116013326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13183770	chr5:116013330-116013331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150578526	chr5:116013362-116013363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560715109	chr5:116013363-116013364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377743130	chr5:116013370-116013371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181432886	chr5:116013380-116013381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552241843	chr5:116013411-116013412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373683134	chr5:116013448-116013449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187455419	chr5:116013454-116013455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139571325	chr5:116013456-116013457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376687851	chr5:116013478-116013479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371151640	chr5:116013508-116013509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143130732	chr5:116013517-116013518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386691486	chr5:116013522-116013523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535520550	chr5:116013523-116013524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534349033	chr5:116013525-116013526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576465774	chr5:116013546-116013547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143429312	chr5:116013556-116013557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572658943	chr5:116013557-116013558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535271227	chr5:116013571-116013572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191816649	chr5:116013631-116013632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2933618	chr5:116013642-116013643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34653776	chr5:116013651-116013652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543851594	chr5:116013687-116013688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564140202	chr5:116013691-116013692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116003600-116013400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:116007400-116015800	Weak transcription	Pancreas	Pancrea
3	chr5:116008800-116016600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:116009000-116013000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:116010000-116017400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:116012200-116013600	Enhancers	HepG2	liver
7	chr5:116013000-116019600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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