Variant report

Variant	esv3351197
Chromosome Location	chr3:86661311-86684370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 738 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546722067	chr3:86663031-86663032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564373070	chr3:86663034-86663035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531723058	chr3:86663037-86663038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550637099	chr3:86663042-86663043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568790317	chr3:86663110-86663111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529861133	chr3:86663138-86663139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148754026	chr3:86663196-86663197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182716934	chr3:86663216-86663217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187783649	chr3:86663263-86663264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77634720	chr3:86663302-86663303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538655074	chr3:86663317-86663318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115720759	chr3:86663339-86663340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4624560	chr3:86663358-86663359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142338870	chr3:86663444-86663445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375514262	chr3:86663453-86663454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115169799	chr3:86663457-86663458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558775949	chr3:86663462-86663463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572027302	chr3:86663483-86663484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542454517	chr3:86663506-86663507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193028313	chr3:86663527-86663528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182926609	chr3:86663570-86663571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151248197	chr3:86663581-86663582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534672175	chr3:86663587-86663588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531636355	chr3:86663601-86663602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60708941	chr3:86663616-86663617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78133503	chr3:86663628-86663629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397951322	chr3:86663629-86663630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554523299	chr3:86663632-86663633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111585568	chr3:86663640-86663641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543772548	chr3:86663651-86663652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562458403	chr3:86663670-86663671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187538504	chr3:86663675-86663676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548075286	chr3:86663676-86663677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537638773	chr3:86663677-86663678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192985567	chr3:86663680-86663681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6800791	chr3:86663690-86663691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370853732	chr3:86663702-86663703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201871646	chr3:86663716-86663717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573791611	chr3:86663728-86663729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570497323	chr3:86663729-86663730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543893052	chr3:86663757-86663758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537456986	chr3:86663760-86663761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549759711	chr3:86663789-86663790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568774777	chr3:86663790-86663791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6800896	chr3:86663800-86663801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554499622	chr3:86663808-86663809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553057760	chr3:86663860-86663861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7633311	chr3:86663891-86663892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs79421441	chr3:86663907-86663908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557994363	chr3:86663957-86663958	Enhancers	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86663000-86663200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:86663000-86663600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:86663000-86664200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:86663800-86664000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:86666400-86667000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:86666600-86667600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:86666800-86667400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr3:86667000-86668800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr3:86667600-86674400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:86673200-86673800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:86673400-86674200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:86674400-86674600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:86675400-86676600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:86675800-86676600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:86677600-86682200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:86678800-86681000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:86681600-86681800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:86681800-86682000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:86682000-86684000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:86682200-86685800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:86683200-86684000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:86683200-86685000	Enhancers	Brain Germinal Matrix	brain
23	chr3:86683400-86683600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr3:86683400-86683800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:86683600-86684000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:86684000-86685800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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