Variant report

Variant	nsv822173
Chromosome Location	chr3:88481649-88482646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568139679	chr3:88481673-88481674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12107227	chr3:88481708-88481709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553819732	chr3:88481721-88481722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145580253	chr3:88481723-88481724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577981327	chr3:88481768-88481769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539724868	chr3:88481773-88481774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557766701	chr3:88481776-88481777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116215330	chr3:88481805-88481806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13069971	chr3:88481918-88481919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376059845	chr3:88481943-88481944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs66930226	chr3:88481993-88481994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543239606	chr3:88482022-88482023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563023542	chr3:88482037-88482038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77932813	chr3:88482055-88482056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77482520	chr3:88482062-88482063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560123161	chr3:88482070-88482071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184731049	chr3:88482076-88482077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546463000	chr3:88482081-88482082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552879509	chr3:88482111-88482112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187924682	chr3:88482121-88482122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542961612	chr3:88482133-88482134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192112578	chr3:88482145-88482146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9837036	chr3:88482152-88482153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185464267	chr3:88482223-88482224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9874586	chr3:88482294-88482295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs199557278	chr3:88482304-88482305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535555827	chr3:88482312-88482313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12107308	chr3:88482353-88482354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565729052	chr3:88482399-88482400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189471527	chr3:88482412-88482413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11456954	chr3:88482419-88482420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200512604	chr3:88482423-88482424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558069733	chr3:88482432-88482433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576232262	chr3:88482463-88482464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368888273	chr3:88482587-88482588	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88476600-88482000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:88482000-88482600	Enhancers	Primary B cells from cord blood	blood
3	chr3:88482600-88483000	Enhancers	GM12878-XiMat	blood
4	chr3:88482600-88483400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr3:88482600-88483600	Enhancers	Dnd41	blood

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