Variant report

Variant	esv3408058
Chromosome Location	chr3:86867962-86870760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182769069	chr3:86867997-86867998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375646849	chr3:86868052-86868053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36015800	chr3:86868107-86868108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140750987	chr3:86868113-86868114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201645695	chr3:86868147-86868148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548190356	chr3:86868151-86868152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112347422	chr3:86868152-86868153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367857389	chr3:86868165-86868166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35200001	chr3:86868166-86868167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189028456	chr3:86868203-86868204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144211817	chr3:86868235-86868236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147762348	chr3:86868257-86868258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2118190	chr3:86868274-86868275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374647936	chr3:86868278-86868279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141462264	chr3:86868282-86868283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556316023	chr3:86868289-86868290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368970621	chr3:86868312-86868313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552048386	chr3:86868316-86868317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562959582	chr3:86868382-86868383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2118189	chr3:86868408-86868409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2118188	chr3:86868436-86868437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147017481	chr3:86868470-86868471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202030128	chr3:86868472-86868473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12491420	chr3:86868486-86868487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527731366	chr3:86868504-86868505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541060423	chr3:86868514-86868515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554520371	chr3:86868529-86868530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531950427	chr3:86868582-86868583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564442418	chr3:86868611-86868612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558066996	chr3:86868633-86868634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571387894	chr3:86868641-86868642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576522024	chr3:86868643-86868644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78205627	chr3:86868658-86868659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78823454	chr3:86868662-86868663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200006071	chr3:86868663-86868664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193135268	chr3:86868674-86868675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185198442	chr3:86868703-86868704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189161450	chr3:86868707-86868708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368295097	chr3:86868761-86868762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542604182	chr3:86868781-86868782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376020087	chr3:86868787-86868788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71128166	chr3:86868796-86868797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11713186	chr3:86868797-86868798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184203750	chr3:86868817-86868818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11713216	chr3:86868825-86868826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11713224	chr3:86868880-86868881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370911216	chr3:86868889-86868890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373943499	chr3:86868890-86868891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188097364	chr3:86868908-86868909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180870711	chr3:86868926-86868927	Weak transcription	n/a	n/a	Overlapped CNVs	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86865400-86870000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:86866600-86871400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:86870000-86870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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