Variant report

Variant	esv3388277
Chromosome Location	chr3:89202462-89205460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151001581	chr3:89202464-89202465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551236195	chr3:89202483-89202484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569596162	chr3:89202506-89202507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536684057	chr3:89202553-89202554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555061698	chr3:89202594-89202595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572352922	chr3:89202601-89202602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114945280	chr3:89202646-89202647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62274620	chr3:89202669-89202670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572090619	chr3:89202682-89202683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554356475	chr3:89202705-89202706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540990134	chr3:89202721-89202722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572646885	chr3:89202851-89202852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540016150	chr3:89202854-89202855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558523749	chr3:89202890-89202891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576798397	chr3:89202897-89202898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531928068	chr3:89202901-89202902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543844987	chr3:89202927-89202928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550521813	chr3:89202944-89202945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562471230	chr3:89202964-89202965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142298935	chr3:89203044-89203045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574090986	chr3:89203081-89203082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114241077	chr3:89203135-89203136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144548422	chr3:89203167-89203168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370808566	chr3:89203180-89203181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114805552	chr3:89203183-89203184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551147593	chr3:89203267-89203268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563285597	chr3:89203275-89203276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113615125	chr3:89203276-89203277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13077331	chr3:89203277-89203278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183749071	chr3:89203288-89203289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567115793	chr3:89203307-89203308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534735038	chr3:89203323-89203324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546405542	chr3:89203326-89203327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376150346	chr3:89203356-89203357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189603532	chr3:89203367-89203368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28396603	chr3:89203407-89203408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372456096	chr3:89203411-89203412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143956104	chr3:89203412-89203413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201419941	chr3:89203419-89203420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548988216	chr3:89203420-89203421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6804206	chr3:89203424-89203425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141168731	chr3:89203428-89203429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576812219	chr3:89203430-89203431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537306221	chr3:89203431-89203432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555749203	chr3:89203435-89203436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561020476	chr3:89203436-89203437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573924497	chr3:89203459-89203460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541396690	chr3:89203468-89203469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9809731	chr3:89203469-89203470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs62274621	chr3:89203482-89203483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89193600-89205800	Weak transcription	Fetal Brain Female	brain
2	chr3:89203000-89203200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:89204000-89205000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:89204200-89204800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:89204600-89204800	Enhancers	Brain Angular Gyrus	brain
6	chr3:89204600-89206000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:89204800-89205200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr3:89204800-89205400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:89204800-89207200	Enhancers	Fetal Lung	lung
10	chr3:89205000-89205400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:89205000-89205400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:89205000-89205400	Active TSS	Brain Anterior Caudate	brain
13	chr3:89205000-89205400	Active TSS	Brain Hippocampus Middle	brain
14	chr3:89205000-89205400	Active TSS	Right Atrium	heart
15	chr3:89205000-89205400	Active TSS	NHDF-Ad	bronchial
16	chr3:89205000-89205400	Active TSS	Osteobl	bone
17	chr3:89205000-89205600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:89205000-89205600	Active TSS	Brain Substantia Nigra	brain
19	chr3:89205000-89205600	Active TSS	Stomach Smooth Muscle	stomach
20	chr3:89205200-89205400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr3:89205200-89205600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr3:89205400-89205800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:89205400-89205800	Enhancers	Brain Hippocampus Middle	brain
24	chr3:89205400-89206200	Weak transcription	Brain Anterior Caudate	brain

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