Variant report

Variant	nsv967035
Chromosome Location	chr3:88237883-88238968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554838469	chr3:88237915-88237916	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs398106138	chr3:88237924-88237925	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368885247	chr3:88237938-88237939	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528944589	chr3:88237992-88237993	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185127942	chr3:88238159-88238160	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146263649	chr3:88238193-88238194	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577390795	chr3:88238249-88238250	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs6551293	chr3:88238295-88238296	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs545454962	chr3:88238321-88238322	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs563657047	chr3:88238350-88238351	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530920400	chr3:88238389-88238390	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531079365	chr3:88238395-88238396	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs35846654	chr3:88238403-88238404	Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549151272	chr3:88238469-88238470	Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376063521	chr3:88238506-88238507	Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567930879	chr3:88238520-88238521	Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528751157	chr3:88238521-88238522	Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs547327417	chr3:88238527-88238528	Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190009531	chr3:88238556-88238557	Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538885007	chr3:88238558-88238559	Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs139424497	chr3:88238560-88238561	Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192912776	chr3:88238621-88238622	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142307428	chr3:88238632-88238633	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554096259	chr3:88238664-88238665	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs572514976	chr3:88238740-88238741	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs184948146	chr3:88238769-88238770	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533799271	chr3:88238778-88238779	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs558445833	chr3:88238783-88238784	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188235958	chr3:88238822-88238823	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544111484	chr3:88238825-88238826	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563795948	chr3:88238873-88238874	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575698519	chr3:88238899-88238900	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs180982107	chr3:88238905-88238906	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561228307	chr3:88238915-88238916	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs185405276	chr3:88238930-88238931	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547287445	chr3:88238933-88238934	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565606109	chr3:88238949-88238950	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73846813	chr3:88238953-88238954	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88237600-88238000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:88237600-88238000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:88237600-88238000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:88237600-88238000	Enhancers	Brain Cingulate Gyrus	brain
5	chr3:88237600-88238000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr3:88237600-88238000	Enhancers	Placenta	Placenta
7	chr3:88237600-88238000	Active TSS	HSMMtube	muscle
8	chr3:88237600-88238200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:88237600-88238200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:88237600-88238200	Active TSS	Brain Substantia Nigra	brain
11	chr3:88237600-88238200	Flanking Active TSS	HepG2	liver
12	chr3:88237600-88238400	Active TSS	Brain Hippocampus Middle	brain
13	chr3:88237600-88238400	Enhancers	NHDF-Ad	bronchial
14	chr3:88237600-88238800	Active TSS	A549	lung
15	chr3:88237600-88244000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:88238000-88238200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:88238000-88238200	Flanking Active TSS	HSMMtube	muscle
18	chr3:88238000-88238400	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr3:88238000-88238600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:88238000-88239000	Active TSS	K562	blood
21	chr3:88238200-88238400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:88238200-88238400	Enhancers	HSMM	muscle
23	chr3:88238200-88238600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:88238200-88238600	Bivalent/Poised TSS	HepG2	liver
25	chr3:88238200-88238800	Active TSS	Placenta	Placenta
26	chr3:88238400-88238600	Enhancers	Brain Hippocampus Middle	brain
27	chr3:88238400-88239000	Enhancers	Brain Cingulate Gyrus	brain
28	chr3:88238600-88239000	Active TSS	HepG2	liver
29	chr3:88238800-88239000	Enhancers	Placenta	Placenta

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