Variant report

Variant	nsv979775
Chromosome Location	chr3:89232947-89234326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117686597	chr3:89233035-89233036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562167369	chr3:89233060-89233061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574145315	chr3:89233102-89233103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541337414	chr3:89233148-89233149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566009758	chr3:89233154-89233155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561133881	chr3:89233162-89233163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181036006	chr3:89233163-89233164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149797728	chr3:89233180-89233181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184404785	chr3:89233209-89233210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145763696	chr3:89233218-89233219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565051354	chr3:89233271-89233272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370111004	chr3:89233319-89233320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536751707	chr3:89233344-89233345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190487768	chr3:89233440-89233441	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs563156768	chr3:89233500-89233501	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs376358074	chr3:89233507-89233508	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs530886355	chr3:89233559-89233560	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs140320930	chr3:89233563-89233564	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs567364240	chr3:89233574-89233575	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs534775052	chr3:89233575-89233576	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs548757512	chr3:89233596-89233597	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs570303843	chr3:89233652-89233653	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs546919595	chr3:89233719-89233720	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs571563010	chr3:89233723-89233724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs145472305	chr3:89233822-89233823	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs556975025	chr3:89233869-89233870	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs146509937	chr3:89233875-89233876	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs75332194	chr3:89233876-89233877	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs554611619	chr3:89233901-89233902	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs574157047	chr3:89233914-89233915	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs541225737	chr3:89233944-89233945	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs71322858	chr3:89233979-89233980	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577898261	chr3:89233983-89233984	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs182264190	chr3:89233988-89233989	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs538229621	chr3:89234033-89234034	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs563553554	chr3:89234054-89234055	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs530897979	chr3:89234104-89234105	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs143202624	chr3:89234132-89234133	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs148190714	chr3:89234148-89234149	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs7430987	chr3:89234210-89234211	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546807216	chr3:89234284-89234285	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs186149132	chr3:89234289-89234290	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs72921746	chr3:89234291-89234292	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89221600-89233400	Weak transcription	Gastric	stomach
2	chr3:89222600-89233600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:89227200-89235800	Weak transcription	Fetal Brain Female	brain
4	chr3:89229400-89233800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:89229400-89234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:89229800-89233400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:89229800-89233800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:89229800-89233800	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:89230000-89233200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:89230000-89233400	Weak transcription	Fetal Lung	lung
11	chr3:89230000-89234000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:89230200-89233400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:89230200-89233600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:89230800-89233200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:89231200-89233200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:89231200-89233200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:89231400-89234600	Weak transcription	Fetal Brain Male	brain
18	chr3:89232400-89234000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:89232600-89233000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:89232600-89235000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:89233000-89235000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:89233200-89233400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:89233200-89235000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:89233200-89235000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:89233200-89235200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:89233400-89233600	Enhancers	Gastric	stomach
27	chr3:89233400-89233800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:89233400-89234200	Enhancers	Brain Substantia Nigra	brain
29	chr3:89233400-89234200	Enhancers	Fetal Lung	lung
30	chr3:89233400-89234400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:89233400-89235000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:89233400-89235200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr3:89233400-89235200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr3:89233600-89234000	Enhancers	Brain Germinal Matrix	brain
35	chr3:89233600-89234800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:89233800-89234000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:89233800-89234200	Enhancers	Brain Hippocampus Middle	brain
38	chr3:89233800-89234200	Enhancers	Stomach Smooth Muscle	stomach
39	chr3:89233800-89234800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:89233800-89236200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:89234000-89234200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:89234000-89234800	Weak transcription	Brain Germinal Matrix	brain
43	chr3:89234000-89235200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:89234200-89234600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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