Variant report

Variant	esv3327154
Chromosome Location	chr3:86565462-86568660
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	chr3:86558263..86561216-chr3:86563016..86565954,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575830356	chr3:86567963-86567964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192361703	chr3:86568010-86568011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536170749	chr3:86568015-86568016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183286910	chr3:86568035-86568036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544917969	chr3:86568051-86568052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572660562	chr3:86568052-86568053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533739682	chr3:86568090-86568091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558341013	chr3:86568107-86568108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371360939	chr3:86568135-86568136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186897704	chr3:86568139-86568140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141055886	chr3:86568163-86568164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562529207	chr3:86568174-86568175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11925417	chr3:86568184-86568185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113413677	chr3:86568202-86568203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9863183	chr3:86568229-86568230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs36095487	chr3:86568240-86568241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540435481	chr3:86568325-86568326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560778464	chr3:86568387-86568388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114786526	chr3:86568410-86568411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552761534	chr3:86568435-86568436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564393284	chr3:86568440-86568441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531867627	chr3:86568504-86568505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113516969	chr3:86568508-86568509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144904348	chr3:86568528-86568529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536133850	chr3:86568535-86568536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548032359	chr3:86568558-86568559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566449786	chr3:86568571-86568572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533712992	chr3:86568574-86568575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74563978	chr3:86568603-86568604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576839579	chr3:86568607-86568608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140546395	chr3:86568631-86568632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555874121	chr3:86568639-86568640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574442855	chr3:86568660-86568661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Acute lymphoblastic leukemia	18458336	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86567800-86568600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:86568600-86569800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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