Variant report

Variant	nsv525314
Chromosome Location	chr3:89031440-89051475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 866 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9851247	chr3:89031440-89031441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181146712	chr3:89031441-89031442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184263313	chr3:89031494-89031495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576590064	chr3:89031514-89031515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114288212	chr3:89031547-89031548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570010842	chr3:89031554-89031555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537334127	chr3:89031585-89031586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549033569	chr3:89031600-89031601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79908974	chr3:89031640-89031641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534731008	chr3:89031679-89031680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188212609	chr3:89031685-89031686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181003494	chr3:89031701-89031702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77650797	chr3:89031787-89031788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141739479	chr3:89031806-89031807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186399999	chr3:89031808-89031809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545607012	chr3:89031814-89031815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563996362	chr3:89031855-89031856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559061562	chr3:89031867-89031868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576366013	chr3:89031901-89031902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543689118	chr3:89031943-89031944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13087216	chr3:89031956-89031957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192487945	chr3:89031965-89031966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541523306	chr3:89031999-89032000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74877176	chr3:89032047-89032048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145496470	chr3:89032079-89032080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148050198	chr3:89032089-89032090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62271116	chr3:89032094-89032095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530848844	chr3:89032108-89032109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59678400	chr3:89032183-89032184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567281815	chr3:89032217-89032218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150502769	chr3:89032255-89032256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115849416	chr3:89032257-89032258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571297707	chr3:89032269-89032270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113861273	chr3:89032356-89032357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376659912	chr3:89032385-89032386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557960344	chr3:89032391-89032392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186797331	chr3:89032404-89032405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537360570	chr3:89032461-89032462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369647399	chr3:89032469-89032470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555598437	chr3:89032485-89032486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573979996	chr3:89032511-89032512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573278505	chr3:89032540-89032541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541113444	chr3:89032542-89032543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147372940	chr3:89032569-89032570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578062267	chr3:89032580-89032581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545461452	chr3:89032591-89032592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139608087	chr3:89032663-89032664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530683706	chr3:89032692-89032693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191640661	chr3:89032734-89032735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535371046	chr3:89032735-89032736	Weak transcription	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89031400-89035600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:89032800-89033800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:89032800-89034400	Enhancers	NHEK	skin
4	chr3:89033000-89034400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:89033000-89034400	Enhancers	Fetal Heart	heart
6	chr3:89033400-89035000	Enhancers	HMEC	breast
7	chr3:89033600-89033800	Enhancers	NH-A	brain
8	chr3:89033600-89034200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:89033800-89034200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:89033800-89036200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:89034000-89034200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:89034000-89036200	Weak transcription	NH-A	brain
13	chr3:89034200-89034400	Enhancers	Osteobl	bone
14	chr3:89034200-89035600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:89034400-89035600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:89034400-89035600	Weak transcription	NHEK	skin
17	chr3:89034400-89036600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:89034400-89037600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:89034600-89035600	Weak transcription	Osteobl	bone
20	chr3:89035000-89036200	Weak transcription	HMEC	breast
21	chr3:89035600-89036200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:89035600-89036600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:89035600-89036600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:89035600-89037800	Enhancers	Osteobl	bone
25	chr3:89035600-89038800	Enhancers	NHEK	skin
26	chr3:89035800-89036600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:89036200-89036400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr3:89036200-89036400	Enhancers	NH-A	brain
29	chr3:89036200-89036600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:89036200-89036600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:89036200-89036600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:89036200-89036600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:89036200-89036600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:89036200-89036600	Enhancers	NHDF-Ad	bronchial
35	chr3:89036200-89038800	Enhancers	HMEC	breast
36	chr3:89036400-89036600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:89036400-89036800	Weak transcription	NH-A	brain
38	chr3:89036400-89037000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:89036400-89037400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:89036600-89037400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:89036600-89037600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:89036600-89037600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:89036600-89037800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:89036600-89037800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:89036800-89037800	Enhancers	NH-A	brain
46	chr3:89037000-89038000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:89037400-89037600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:89037400-89038600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr3:89037600-89038800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:89037600-89038800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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