Variant report

Variant	esv3381859
Chromosome Location	chr3:89483912-89485760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530496172	chr3:89483971-89483972	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549068036	chr3:89484002-89484003	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181408483	chr3:89484029-89484030	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186421130	chr3:89484034-89484035	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546236810	chr3:89484062-89484063	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566012688	chr3:89484090-89484091	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572560178	chr3:89484109-89484110	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189255347	chr3:89484111-89484112	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180734003	chr3:89484113-89484114	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186465603	chr3:89484123-89484124	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539940493	chr3:89484152-89484153	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111695037	chr3:89484165-89484166	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570250606	chr3:89484205-89484206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373638614	chr3:89484228-89484229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190847587	chr3:89484239-89484240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1028013	chr3:89484268-89484269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs574088460	chr3:89484333-89484334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112355332	chr3:89484369-89484370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535012681	chr3:89484377-89484378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369351475	chr3:89484464-89484465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550835764	chr3:89484497-89484498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553430148	chr3:89484561-89484562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577975638	chr3:89484562-89484563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545345852	chr3:89484606-89484607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563295670	chr3:89484609-89484610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113612091	chr3:89484721-89484722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551617788	chr3:89484745-89484746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546570357	chr3:89484746-89484747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58654688	chr3:89484755-89484756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557036109	chr3:89484764-89484765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145497615	chr3:89484778-89484779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6772121	chr3:89484793-89484794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6783330	chr3:89484799-89484800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183361543	chr3:89484829-89484830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542498904	chr3:89484831-89484832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561035188	chr3:89484851-89484852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35918487	chr3:89484852-89484853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144995336	chr3:89484898-89484899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546174497	chr3:89484906-89484907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35904454	chr3:89484931-89484932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186946436	chr3:89484971-89484972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71621550	chr3:89484984-89484985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113956773	chr3:89484996-89484997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148673018	chr3:89485030-89485031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551661150	chr3:89485050-89485051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146399331	chr3:89485116-89485117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533353475	chr3:89485129-89485130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570108982	chr3:89485159-89485160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191781734	chr3:89485169-89485170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183124394	chr3:89485234-89485235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Obesity	21131291	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	20531469	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89460800-89521200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:89483000-89484200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:89483000-89484400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:89483400-89484000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:89483400-89484200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:89483600-89484000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:89483600-89484000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:89483600-89484000	Active TSS	Brain Angular Gyrus	brain
9	chr3:89483600-89484200	Active TSS	Fetal Lung	lung
10	chr3:89483600-89484400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:89483800-89484200	Active TSS	Brain Anterior Caudate	brain
12	chr3:89483800-89484200	Active TSS	Brain Hippocampus Middle	brain
13	chr3:89483800-89484200	Enhancers	NH-A	brain
14	chr3:89484000-89484200	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr3:89484000-89484200	Enhancers	Brain Substantia Nigra	brain
16	chr3:89484200-89489400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:89484200-89491600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:89484600-89489600	Weak transcription	Fetal Brain Male	brain

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