Variant report

Variant	nsv1010365
Chromosome Location	chr3:88904410-88950411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 318 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528616239	chr3:88912022-88912023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140719366	chr3:88912037-88912038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180916265	chr3:88912068-88912069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532888826	chr3:88912081-88912082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28523924	chr3:88912087-88912088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1483485	chr3:88912109-88912110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569271786	chr3:88912127-88912128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530985461	chr3:88912150-88912151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552098706	chr3:88912206-88912207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74719788	chr3:88912250-88912251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563885468	chr3:88912267-88912268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4301012	chr3:88912283-88912284	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35316336	chr3:88912286-88912287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546689240	chr3:88912305-88912306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1483486	chr3:88912331-88912332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558761508	chr3:88912374-88912375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577039670	chr3:88912405-88912406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184608542	chr3:88912427-88912428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373694939	chr3:88912442-88912443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556199102	chr3:88912443-88912444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574345751	chr3:88912452-88912453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541428824	chr3:88912457-88912458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149791758	chr3:88912460-88912461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527425772	chr3:88912469-88912470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565360563	chr3:88912479-88912480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527917384	chr3:88912491-88912492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190755243	chr3:88912502-88912503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548028624	chr3:88912517-88912518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373368493	chr3:88912525-88912526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565504839	chr3:88912589-88912590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1483487	chr3:88912601-88912602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181680433	chr3:88912649-88912650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187136042	chr3:88912653-88912654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144742329	chr3:88912659-88912660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548640227	chr3:88912687-88912688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530421025	chr3:88912711-88912712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566966618	chr3:88912770-88912771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72929836	chr3:88912812-88912813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569078478	chr3:88912868-88912869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570589856	chr3:88912882-88912883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550905986	chr3:88912911-88912912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556376214	chr3:88912919-88912920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539305567	chr3:88912948-88912949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574402304	chr3:88912980-88912981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535073733	chr3:88913005-88913006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191170605	chr3:88913073-88913074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571788459	chr3:88913151-88913152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528580029	chr3:88913172-88913173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199829479	chr3:88913173-88913174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199677359	chr3:88913182-88913183	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88912000-88913200	Enhancers	Osteobl	bone
2	chr3:88912200-88913000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:88912200-88913000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:88912600-88913000	Enhancers	NH-A	brain
5	chr3:88917400-88917800	Enhancers	Fetal Heart	heart
6	chr3:88925800-88926200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:88925800-88926200	Enhancers	HMEC	breast
8	chr3:88925800-88926400	Enhancers	NHEK	skin
9	chr3:88926200-88928800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:88926200-88928800	Weak transcription	HMEC	breast
11	chr3:88926400-88928600	Weak transcription	NHEK	skin
12	chr3:88928600-88929200	Enhancers	NHEK	skin
13	chr3:88928800-88929200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:88928800-88929400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:88928800-88929400	Enhancers	HMEC	breast
16	chr3:88945000-88945200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:88946400-88946600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:88946600-88947200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:88946600-88947200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:88946800-88947400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:88947400-88948400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:88948400-88948600	Enhancers	Cortex derived primary cultured neurospheres	brain

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