Variant report

Variant	esv3415914
Chromosome Location	chr3:85418980-85421319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531774956	chr3:85419003-85419004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373598988	chr3:85419008-85419009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550668591	chr3:85419055-85419056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568834996	chr3:85419059-85419060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530392447	chr3:85419092-85419093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540540570	chr3:85419109-85419110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529725447	chr3:85419119-85419120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571391866	chr3:85419122-85419123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548197147	chr3:85419144-85419145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566817841	chr3:85419159-85419160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529216707	chr3:85419160-85419161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367732315	chr3:85419177-85419178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560272769	chr3:85419182-85419183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11929389	chr3:85419209-85419210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs57611991	chr3:85419288-85419289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187667309	chr3:85419292-85419293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574822917	chr3:85419314-85419315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374206384	chr3:85419363-85419364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368027968	chr3:85419365-85419366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72332082	chr3:85419366-85419367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560916838	chr3:85419368-85419369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146435057	chr3:85419389-85419390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3086129	chr3:85419409-85419410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542250949	chr3:85419429-85419430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552394316	chr3:85419439-85419440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569318609	chr3:85419485-85419486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572063856	chr3:85419554-85419555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140717279	chr3:85419572-85419573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71108282	chr3:85419581-85419582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190857402	chr3:85419603-85419604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546100600	chr3:85419618-85419619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564406794	chr3:85419636-85419637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113324006	chr3:85419644-85419645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531958152	chr3:85419658-85419659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12107478	chr3:85419678-85419679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370409938	chr3:85419685-85419686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73134731	chr3:85419726-85419727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529747143	chr3:85419747-85419748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548259927	chr3:85419787-85419788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374370123	chr3:85419790-85419791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185182592	chr3:85419837-85419838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549268536	chr3:85419852-85419853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139331082	chr3:85419854-85419855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376471472	chr3:85419880-85419881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570634353	chr3:85419902-85419903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369650023	chr3:85419914-85419915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190340393	chr3:85419930-85419931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183372424	chr3:85419945-85419946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372786915	chr3:85419951-85419952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117692762	chr3:85419991-85419992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21858162	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
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85416200-85450200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85420400-85420600	Enhancers	Brain Angular Gyrus	brain

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