Variant report

Variant	nsv967257
Chromosome Location	chr3:90054927-90058506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182474436	chr3:90054930-90054931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571621915	chr3:90055059-90055060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186606299	chr3:90055068-90055069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550870567	chr3:90055094-90055095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568798711	chr3:90055111-90055112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536071387	chr3:90055126-90055127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138742752	chr3:90055162-90055163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79705686	chr3:90055223-90055224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533898773	chr3:90055231-90055232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376211749	chr3:90055247-90055248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558322548	chr3:90055263-90055264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576795266	chr3:90055265-90055266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543827565	chr3:90055296-90055297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557720370	chr3:90055325-90055326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575984930	chr3:90055370-90055371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112809418	chr3:90055437-90055438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192547636	chr3:90055457-90055458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369456305	chr3:90055461-90055462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184772679	chr3:90055484-90055485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551871143	chr3:90055490-90055491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549689525	chr3:90055493-90055494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371025101	chr3:90055538-90055539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573432130	chr3:90055721-90055722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116085484	chr3:90055760-90055761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565202712	chr3:90055788-90055789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532575962	chr3:90055811-90055812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187583947	chr3:90055850-90055851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192954235	chr3:90055868-90055869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185214944	chr3:90055913-90055914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555679976	chr3:90055932-90055933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548041785	chr3:90055976-90055977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566333586	chr3:90056080-90056081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143979159	chr3:90056114-90056115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189747477	chr3:90056122-90056123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201002797	chr3:90056125-90056126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115343718	chr3:90056274-90056275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556190451	chr3:90056282-90056283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576046076	chr3:90056292-90056293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1464463	chr3:90056380-90056381	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs555252830	chr3:90056385-90056386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181107956	chr3:90056411-90056412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11128080	chr3:90056453-90056454	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs540457516	chr3:90056472-90056473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565409235	chr3:90056486-90056487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568257008	chr3:90056502-90056503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577265819	chr3:90056537-90056538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544241688	chr3:90056563-90056564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562552418	chr3:90056577-90056578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144353925	chr3:90056587-90056588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548101526	chr3:90056598-90056599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Soft tissue tumor	16732325	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
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90053000-90056800	Weak transcription	Fetal Heart	heart
2	chr3:90053800-90056400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr3:90053800-90056800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:90053800-90056800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:90054200-90056800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:90056200-90058000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:90056200-90058000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:90056400-90056800	Enhancers	HSMM	muscle
9	chr3:90056400-90056800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr3:90056400-90057200	Enhancers	Fetal Lung	lung
11	chr3:90056400-90057600	Enhancers	Fetal Brain Male	brain
12	chr3:90056400-90058000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:90056400-90058400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:90056600-90057000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:90056600-90058000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:90056600-90058000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr3:90056800-90057000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:90056800-90057000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:90056800-90057000	Flanking Active TSS	HSMM	muscle
20	chr3:90056800-90057200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:90056800-90057200	Enhancers	HSMMtube	muscle
22	chr3:90056800-90057400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:90056800-90057400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:90056800-90057400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:90056800-90057400	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:90056800-90057600	Enhancers	NHDF-Ad	bronchial
27	chr3:90056800-90057800	Enhancers	Fetal Stomach	stomach
28	chr3:90056800-90058000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr3:90056800-90058200	Enhancers	Fetal Heart	heart
30	chr3:90057000-90057200	Enhancers	Aorta	Aorta
31	chr3:90057000-90057200	Enhancers	HSMM	muscle
32	chr3:90057000-90057400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:90057000-90057400	Active TSS	Stomach Smooth Muscle	stomach
34	chr3:90057000-90057600	Enhancers	Stomach Mucosa	stomach
35	chr3:90057000-90057800	Enhancers	Fetal Brain Female	brain
36	chr3:90057000-90057800	Enhancers	Ovary	ovary
37	chr3:90057000-90058200	Enhancers	Colon Smooth Muscle	Colon
38	chr3:90057000-90058400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:90057200-90057400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:90057200-90057400	Flanking Active TSS	HSMM	muscle
41	chr3:90057200-90057600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:90057200-90057600	Flanking Active TSS	Fetal Lung	lung
43	chr3:90057200-90057600	Flanking Active TSS	HSMMtube	muscle
44	chr3:90057200-90059400	Weak transcription	Aorta	Aorta
45	chr3:90057400-90058800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:90057400-90058800	Enhancers	HSMM	muscle
47	chr3:90057400-90059200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:90057400-90059600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:90057400-90064400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:90057600-90057800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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