Variant report

Variant	esv3451041
Chromosome Location	chr5:179348763-179349277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179344667..179348658-chr5:179348694..179351891,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559619730	chr5:179348793-179348794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566416887	chr5:179348866-179348867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370617308	chr5:179348867-179348868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530549550	chr5:179348889-179348890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553697394	chr5:179348911-179348912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572247071	chr5:179348913-179348914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545677783	chr5:179348938-179348939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34628274	chr5:179348942-179348943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550881262	chr5:179349008-179349009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567889660	chr5:179349010-179349011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536542335	chr5:179349041-179349042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115554473	chr5:179349064-179349065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144081956	chr5:179349114-179349115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561620099	chr5:179349153-179349154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530334891	chr5:179349192-179349193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73340208	chr5:179349205-179349206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190229722	chr5:179349211-179349212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73340210	chr5:179349249-179349250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552476457	chr5:179349256-179349257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372360072	chr5:179349263-179349264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146479689	chr5:179349270-179349271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179335800-179358200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:179336000-179349000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr5:179336000-179361000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:179344600-179381600	Weak transcription	Fetal Brain Male	brain
5	chr5:179344800-179350400	Weak transcription	Primary B cells from cord blood	blood
6	chr5:179344800-179350400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:179344800-179351400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:179345000-179350200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:179345000-179350400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:179346800-179353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:179347000-179349200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:179347000-179350400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:179347000-179353800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:179347200-179349000	Weak transcription	Fetal Stomach	stomach
15	chr5:179347200-179381000	Weak transcription	Brain Angular Gyrus	brain
16	chr5:179347400-179358200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:179347400-179372000	Weak transcription	Brain Germinal Matrix	brain
18	chr5:179347600-179352800	Weak transcription	Fetal Brain Female	brain

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