Variant report

Variant	nsv590923
Chromosome Location	chr3:89336417-89417171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:89350735..89353187-chr3:89378356..89381194,2	MCF-7	breast:
2	chr3:89374362..89376361-chr3:89384187..89386718,2	MCF-7	breast:
3	chr3:89363341..89364322-chr3:89553265..89554099,2	MCF-7	breast:
4	chr3:89363361..89364089-chr3:89576940..89577502,2	MCF-7	breast:
5	chr3:89362727..89364940-chr3:89377326..89380080,2	MCF-7	breast:
6	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:
7	chr3:89374362..89376361-chr3:89384187..89386718,2	MCF-7	breast:
8	chr3:89363840..89366727-chr3:89369296..89370950,2	MCF-7	breast:
9	chr3:89362727..89364940-chr3:89377326..89380080,2	MCF-7	breast:
10	chr3:89350735..89353187-chr3:89378356..89381194,2	MCF-7	breast:
11	chr3:89363840..89366727-chr3:89369296..89370950,2	MCF-7	breast:
12	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:

No data

Extended variants
information (count: 2111 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2111 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116302947	chr3:89347405-89347406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150397444	chr3:89347415-89347416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181732247	chr3:89347464-89347465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529050558	chr3:89347468-89347469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528679510	chr3:89347517-89347518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13069116	chr3:89347523-89347524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535402543	chr3:89347533-89347534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550638296	chr3:89347562-89347563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186245017	chr3:89347632-89347633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190634117	chr3:89347665-89347666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568909755	chr3:89347732-89347733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182807262	chr3:89347736-89347737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533741313	chr3:89349009-89349010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537056869	chr3:89349027-89349028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555294795	chr3:89349028-89349029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375577497	chr3:89349036-89349037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145148643	chr3:89349069-89349070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541478696	chr3:89349084-89349085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562896666	chr3:89349089-89349090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555202314	chr3:89349118-89349119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559316990	chr3:89349119-89349120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573638124	chr3:89349149-89349150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182882793	chr3:89349150-89349151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545019177	chr3:89349177-89349178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544196908	chr3:89349301-89349302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556311534	chr3:89349338-89349339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563567240	chr3:89349355-89349356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530787903	chr3:89349381-89349382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535283224	chr3:89349465-89349466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34831949	chr3:89349467-89349468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532100057	chr3:89349510-89349511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368189030	chr3:89349538-89349539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545137502	chr3:89349543-89349544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549004875	chr3:89349584-89349585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9809011	chr3:89349617-89349618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs369754094	chr3:89349623-89349624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35097484	chr3:89349665-89349666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528190629	chr3:89349675-89349676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527842759	chr3:89349703-89349704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566170177	chr3:89349707-89349708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533570112	chr3:89349726-89349727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551518556	chr3:89349773-89349774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138779498	chr3:89349777-89349778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77501718	chr3:89349804-89349805	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187433206	chr3:89349814-89349815	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs9866945	chr3:89349818-89349819	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs561560691	chr3:89349859-89349860	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534834304	chr3:89349906-89349907	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs553425465	chr3:89349909-89349910	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs142810995	chr3:89349915-89349916	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Obesity	19966786	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89347400-89347800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr3:89349000-89350600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:89349200-89350600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr3:89349600-89349800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:89349600-89349800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:89349600-89349800	Enhancers	NHDF-Ad	bronchial
7	chr3:89349600-89349800	Enhancers	Osteobl	bone
8	chr3:89349600-89350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:89349600-89350200	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:89349600-89350200	Enhancers	Dnd41	blood
11	chr3:89349600-89350200	Enhancers	NH-A	brain
12	chr3:89349600-89350200	Enhancers	NHLF	lung
13	chr3:89349800-89350200	Flanking Active TSS	NHDF-Ad	bronchial
14	chr3:89349800-89350200	Flanking Active TSS	Osteobl	bone
15	chr3:89349800-89350400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:89349800-89350800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:89349800-89350800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:89349800-89350800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:89350000-89350400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:89350000-89350800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:89350200-89350800	Enhancers	NHDF-Ad	bronchial
22	chr3:89350200-89351200	Enhancers	Osteobl	bone
23	chr3:89350200-89352800	Weak transcription	NHLF	lung
24	chr3:89350400-89350600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:89350600-89350800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:89350800-89351600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:89350800-89351600	Weak transcription	NHDF-Ad	bronchial
28	chr3:89350800-89351800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:89350800-89352600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:89350800-89359200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:89351200-89353000	Weak transcription	Osteobl	bone
32	chr3:89351600-89351800	Enhancers	NHDF-Ad	bronchial
33	chr3:89351600-89352800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:89351800-89352800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:89351800-89353400	Weak transcription	NHDF-Ad	bronchial
36	chr3:89352600-89353600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:89352800-89353400	Enhancers	NHLF	lung
38	chr3:89352800-89353800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:89352800-89353800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:89353000-89353800	Enhancers	Osteobl	bone
41	chr3:89353400-89353600	Enhancers	NHDF-Ad	bronchial
42	chr3:89353800-89355400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:89353800-89355400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:89355400-89356400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:89355400-89357000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:89356400-89359000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:89357200-89358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:89357800-89358000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:89359000-89359600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:89359200-89359400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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