Variant report

Variant	nsv1002605
Chromosome Location	chr3:89413038-89453045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:89448319..89450761-chr3:89456485..89459410,2	MCF-7	breast:
2	chr3:89435683..89438107-chr3:89442264..89444057,2	MCF-7	breast:
3	chr3:89425184..89427715-chr3:89431081..89433096,2	MCF-7	breast:
4	chr3:89435683..89438107-chr3:89442264..89444057,2	MCF-7	breast:
5	chr3:89425184..89427715-chr3:89431081..89433096,2	MCF-7	breast:

Extended variants
information (count: 1740 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1740 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74563965	chr3:89413106-89413107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541909426	chr3:89413139-89413140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555417163	chr3:89413157-89413158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573878904	chr3:89413165-89413166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575474402	chr3:89413175-89413176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73846157	chr3:89413181-89413182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79230363	chr3:89413223-89413224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556959689	chr3:89413226-89413227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544400708	chr3:89413311-89413312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577183707	chr3:89413357-89413358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561896054	chr3:89413387-89413388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189064602	chr3:89413408-89413409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181656435	chr3:89413423-89413424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563022977	chr3:89413436-89413437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564804332	chr3:89413467-89413468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533419893	chr3:89413480-89413481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146736653	chr3:89413488-89413489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550345316	chr3:89413598-89413599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562093748	chr3:89413633-89413634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186658755	chr3:89413636-89413637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529599016	chr3:89413752-89413753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548074713	chr3:89413764-89413765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566097688	chr3:89413809-89413810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191054002	chr3:89413820-89413821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544562938	chr3:89413822-89413823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139888442	chr3:89413837-89413838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551937552	chr3:89413838-89413839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76163296	chr3:89413876-89413877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75082823	chr3:89413908-89413909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564362171	chr3:89413932-89413933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111379229	chr3:89413934-89413935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372673674	chr3:89413953-89413954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573716114	chr3:89414036-89414037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139400658	chr3:89414093-89414094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144174647	chr3:89414138-89414139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77373730	chr3:89414159-89414160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544590140	chr3:89414196-89414197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563089067	chr3:89414259-89414260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180956400	chr3:89414319-89414320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79198811	chr3:89414350-89414351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562321966	chr3:89414452-89414453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529435241	chr3:89414453-89414454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548135285	chr3:89414495-89414496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560070338	chr3:89414509-89414510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144869983	chr3:89414533-89414534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185127466	chr3:89414540-89414541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142740309	chr3:89414543-89414544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17801001	chr3:89414555-89414556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs76088701	chr3:89414577-89414578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77426352	chr3:89414582-89414583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	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

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89392600-89417400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:89404400-89417600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:89410400-89421200	Weak transcription	Fetal Brain Female	brain
4	chr3:89410600-89414000	Enhancers	Fetal Lung	lung
5	chr3:89412600-89413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:89412600-89413400	Enhancers	Fetal Muscle Leg	muscle
7	chr3:89413200-89413600	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:89413400-89413800	Enhancers	Ovary	ovary
9	chr3:89413400-89415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:89414000-89418000	Weak transcription	Fetal Lung	lung
11	chr3:89415800-89417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:89417200-89417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:89417200-89418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:89417400-89417800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:89417600-89417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:89417600-89418000	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr3:89417800-89433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:89418000-89418200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:89418000-89421000	Weak transcription	Brain Germinal Matrix	brain
20	chr3:89420800-89422800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:89421000-89421600	Enhancers	Brain Germinal Matrix	brain
22	chr3:89421000-89422800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:89421200-89421600	Enhancers	Fetal Brain Female	brain
24	chr3:89421200-89421600	Enhancers	NH-A	brain
25	chr3:89421200-89421800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:89421200-89422400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:89421400-89421800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:89421400-89421800	Enhancers	Osteobl	bone
29	chr3:89421400-89422200	Enhancers	NHDF-Ad	bronchial
30	chr3:89421400-89422400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:89421600-89422000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:89421600-89422000	Weak transcription	Brain Germinal Matrix	brain
33	chr3:89421600-89422200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:89421600-89423600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:89421800-89422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:89421800-89422600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:89422000-89422200	Enhancers	Brain Germinal Matrix	brain
38	chr3:89422000-89428400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:89422200-89424400	Weak transcription	Brain Germinal Matrix	brain
40	chr3:89422400-89422800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:89422600-89422800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:89422600-89423000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr3:89422600-89423000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:89422800-89425800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:89422800-89426000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:89422800-89429000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:89423000-89427200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:89423000-89427600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:89424200-89425000	Enhancers	Fetal Heart	heart
50	chr3:89424400-89425200	Enhancers	Brain Germinal Matrix	brain

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