Variant report

Variant	nsv520982
Chromosome Location	chr3:89072526-89076055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1390704	chr3:89072526-89072527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181053026	chr3:89072597-89072598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186094399	chr3:89072622-89072623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559084623	chr3:89072646-89072647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530229288	chr3:89072653-89072654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191815244	chr3:89072657-89072658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77190189	chr3:89072660-89072661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527701665	chr3:89072687-89072688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552514205	chr3:89072698-89072699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60924671	chr3:89072700-89072701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148790420	chr3:89072710-89072711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183414439	chr3:89072720-89072721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187413615	chr3:89072725-89072726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142228749	chr3:89072746-89072747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75199717	chr3:89072757-89072758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535623389	chr3:89072776-89072777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190738998	chr3:89072792-89072793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115603266	chr3:89072879-89072880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368307724	chr3:89072881-89072882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142467152	chr3:89072882-89072883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539067460	chr3:89072888-89072889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557696972	chr3:89072913-89072914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575939724	chr3:89072916-89072917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543551078	chr3:89072929-89072930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386663302	chr3:89072930-89072931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202229689	chr3:89072932-89072933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545232026	chr3:89072993-89072994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555025656	chr3:89073002-89073003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151335461	chr3:89073007-89073008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574729194	chr3:89073025-89073026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80234030	chr3:89073042-89073043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140435897	chr3:89073057-89073058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527938861	chr3:89073076-89073077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545884592	chr3:89073107-89073108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528389939	chr3:89073156-89073157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564542267	chr3:89073192-89073193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531602482	chr3:89073257-89073258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182625865	chr3:89073283-89073284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9811385	chr3:89073323-89073324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529115540	chr3:89073361-89073362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12714728	chr3:89073485-89073486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188144960	chr3:89073487-89073488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539763432	chr3:89073560-89073561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573041977	chr3:89073561-89073562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551384217	chr3:89073588-89073589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540696376	chr3:89073637-89073638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6807861	chr3:89073677-89073678	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146564753	chr3:89073686-89073687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555061320	chr3:89073705-89073706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573376476	chr3:89073749-89073750	Weak transcription Enhancers	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89069000-89074400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:89071200-89073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:89071200-89073800	Weak transcription	NH-A	brain
4	chr3:89071800-89073200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:89071800-89073800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:89071800-89073800	Weak transcription	NHDF-Ad	bronchial
7	chr3:89071800-89074000	Weak transcription	Osteobl	bone
8	chr3:89071800-89074200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:89071800-89074200	Weak transcription	HMEC	breast
10	chr3:89072000-89073600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:89072000-89073800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:89073200-89074400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:89073600-89074000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:89073800-89074000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:89073800-89074200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:89073800-89074200	Enhancers	NH-A	brain
17	chr3:89073800-89074200	Enhancers	NHDF-Ad	bronchial
18	chr3:89073800-89074400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:89073800-89074600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:89074000-89074200	Enhancers	Osteobl	bone
21	chr3:89074000-89074400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:89074000-89074600	Enhancers	Brain Germinal Matrix	brain
23	chr3:89074000-89074800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:89074000-89074800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:89074200-89074400	Flanking Active TSS	Osteobl	bone
26	chr3:89074200-89074600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:89074200-89074600	Active TSS	Brain Substantia Nigra	brain
28	chr3:89074200-89074600	Enhancers	HMEC	breast
29	chr3:89074200-89074600	Active TSS	NH-A	brain
30	chr3:89074200-89074600	Active TSS	NHDF-Ad	bronchial
31	chr3:89074200-89074800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:89074400-89074800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:89074400-89074800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:89074400-89074800	Active TSS	Osteobl	bone
35	chr3:89074400-89075400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:89074400-89075800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:89074600-89074800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:89074600-89074800	Enhancers	Brain Substantia Nigra	brain
39	chr3:89074600-89074800	Enhancers	NH-A	brain
40	chr3:89074600-89074800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr3:89074600-89075400	Weak transcription	HMEC	breast
42	chr3:89074800-89075000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:89074800-89075000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:89074800-89075200	Enhancers	Osteobl	bone
45	chr3:89075000-89075400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:89075400-89075600	Enhancers	HMEC	breast
47	chr3:89075400-89076000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:89075600-89075800	Enhancers	Cortex derived primary cultured neurospheres	brain

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