Variant report

Variant	nsv599447
Chromosome Location	chr5:114117381-114143429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114139161..114139984-chr5:114369361..114370136,2	MCF-7	breast:
2	chr5:114125530..114126082-chr5:114137895..114138833,2	MCF-7	breast:
3	chr5:114133331..114134215-chr5:114369304..114370183,3	MCF-7	breast:
4	chr5:114125530..114126082-chr5:114137895..114138833,2	MCF-7	breast:
5	chr5:114138711..114139387-chr5:114369334..114369873,2	MCF-7	breast:
6	chr5:114139185..114139978-chr5:114404825..114405439,2	MCF-7	breast:

Extended variants
information (count: 245 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4705511	chr5:114117381-114117382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144919361	chr5:114117395-114117396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147963976	chr5:114117419-114117420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570068420	chr5:114117448-114117449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537046123	chr5:114117466-114117467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558851675	chr5:114117474-114117475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75873051	chr5:114117479-114117480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141732137	chr5:114117532-114117533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372633245	chr5:114117572-114117573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71653322	chr5:114117573-114117574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540830068	chr5:114117592-114117593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140832825	chr5:114117594-114117595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3221279	chr5:114117602-114117603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3985018	chr5:114117603-114117604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60726051	chr5:114117604-114117605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550387659	chr5:114117669-114117670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552718544	chr5:114117672-114117673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577408706	chr5:114117673-114117674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193150287	chr5:114117686-114117687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183560561	chr5:114117688-114117689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188287524	chr5:114117706-114117707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534690627	chr5:114117711-114117712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530577147	chr5:114117771-114117772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545474289	chr5:114117844-114117845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147091983	chr5:114117848-114117849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372654100	chr5:114117850-114117851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532651680	chr5:114117897-114117898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566519611	chr5:114117957-114117958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548032652	chr5:114117958-114117959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566243948	chr5:114117966-114117967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552825064	chr5:114118005-114118006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10075701	chr5:114118027-114118028	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372807009	chr5:114118035-114118036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570042235	chr5:114118060-114118061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537461617	chr5:114118067-114118068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376097548	chr5:114118099-114118100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79444908	chr5:114118118-114118119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558631842	chr5:114118158-114118159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147999756	chr5:114118160-114118161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370000998	chr5:114118176-114118177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534567890	chr5:114118195-114118196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552830418	chr5:114118300-114118301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10053783	chr5:114118315-114118316	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs180896949	chr5:114118333-114118334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185352086	chr5:114118348-114118349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575211703	chr5:114118405-114118406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545789837	chr5:114118426-114118427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563899449	chr5:114118434-114118435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112346863	chr5:114118436-114118437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541780718	chr5:114118464-114118465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114110200-114118400	Weak transcription	Adipose Nuclei	Adipose
2	chr5:114112800-114118000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:114117800-114118800	Enhancers	Fetal Muscle Leg	muscle
4	chr5:114118000-114118400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:114118400-114118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:114118400-114119000	Enhancers	Adipose Nuclei	Adipose
7	chr5:114118600-114119000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:114118600-114119000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:114119000-114119600	Weak transcription	Adipose Nuclei	Adipose
10	chr5:114119600-114120800	Enhancers	Adipose Nuclei	Adipose
11	chr5:114125400-114126000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:114129200-114129800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:114141600-114142200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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