Variant report

Variant	nsv518601
Chromosome Location	chr3:86831077-86832039
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	chr3:86825807..86828195-chr3:86829675..86832159,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1437055	chr3:86831077-86831078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539350415	chr3:86831102-86831103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532745980	chr3:86831136-86831137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531571716	chr3:86831188-86831189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557624727	chr3:86831241-86831242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183801394	chr3:86831259-86831260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376650968	chr3:86831280-86831281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9815450	chr3:86831354-86831355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557261607	chr3:86831398-86831399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200535220	chr3:86831406-86831407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543195652	chr3:86831416-86831417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571367947	chr3:86831606-86831607	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574108967	chr3:86831625-86831626	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs140055787	chr3:86831627-86831628	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79753138	chr3:86831631-86831632	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs34909185	chr3:86831656-86831657	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540731232	chr3:86831678-86831679	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559307256	chr3:86831685-86831686	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4855173	chr3:86831707-86831708	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545756783	chr3:86831740-86831741	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4855174	chr3:86831752-86831753	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531159210	chr3:86831756-86831757	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549576862	chr3:86831773-86831774	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145534261	chr3:86831801-86831802	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114548545	chr3:86831827-86831828	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546731097	chr3:86831890-86831891	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35625787	chr3:86831931-86831932	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189298997	chr3:86831950-86831951	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538635794	chr3:86831965-86831966	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78837784	chr3:86832035-86832036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6779214	chr3:86832039-86832040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86830800-86832000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:86831000-86831600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:86831600-86831800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:86831600-86832000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:86831600-86832000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:86831600-86832000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:86831600-86832200	Enhancers	Fetal Lung	lung
8	chr3:86831800-86834400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:86832000-86834400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:86832000-86835000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:86832000-86836200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:86832000-86842400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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