Variant report

Variant	nsv980719
Chromosome Location	chr5:120366364-120366995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151259931	chr5:120366366-120366367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1422605	chr5:120366397-120366398	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546508768	chr5:120366424-120366425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571169942	chr5:120366435-120366436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140440005	chr5:120366460-120366461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76505325	chr5:120366494-120366495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150018051	chr5:120366496-120366497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536787741	chr5:120366526-120366527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114130253	chr5:120366555-120366556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573490766	chr5:120366577-120366578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537924963	chr5:120366581-120366582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534349441	chr5:120366591-120366592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145234432	chr5:120366608-120366609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577656244	chr5:120366687-120366688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544566045	chr5:120366690-120366691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563328806	chr5:120366702-120366703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77293394	chr5:120366706-120366707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113135365	chr5:120366710-120366711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542731818	chr5:120366711-120366712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77344590	chr5:120366719-120366720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560617848	chr5:120366763-120366764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200705428	chr5:120366794-120366795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528283318	chr5:120366827-120366828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75631419	chr5:120366888-120366889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193032356	chr5:120366920-120366921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577564316	chr5:120366926-120366927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532477454	chr5:120366929-120366930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185367824	chr5:120366977-120366978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138765614	chr5:120366987-120366988	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120361600-120368400	Enhancers	Dnd41	blood
2	chr5:120365200-120367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:120365600-120367000	Enhancers	NHDF-Ad	bronchial
4	chr5:120366000-120366800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:120366800-120367000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:120366800-120367200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:120366800-120367600	Enhancers	Fetal Heart	heart
8	chr5:120366800-120367600	Enhancers	Fetal Muscle Leg	muscle
9	chr5:120366800-120367800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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