Variant report

Variant	esv3348197
Chromosome Location	chr5:177884697-177885240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177876786..177879529-chr5:177883377..177886367,2	K562	blood:
2	chr5:177879706..177881386-chr5:177883345..177884930,2	K562	blood:
3	chr5:177881991..177885625-chr5:177886030..177888202,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370157841	chr5:177884712-177884713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571032744	chr5:177884734-177884735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573923100	chr5:177884736-177884737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537959713	chr5:177884739-177884740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542804987	chr5:177884767-177884768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4976777	chr5:177884787-177884788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs574361313	chr5:177884799-177884800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535384745	chr5:177884906-177884907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553488237	chr5:177884966-177884967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74627254	chr5:177884982-177884983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545763969	chr5:177884991-177884992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563967831	chr5:177885004-177885005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145274050	chr5:177885033-177885034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115639901	chr5:177885056-177885057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562595268	chr5:177885093-177885094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530131969	chr5:177885135-177885136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571761897	chr5:177885136-177885137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548604722	chr5:177885137-177885138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199640252	chr5:177885142-177885143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528012914	chr5:177885143-177885144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11748000	chr5:177885147-177885148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200545157	chr5:177885160-177885161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185147861	chr5:177885165-177885166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201513088	chr5:177885166-177885167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202112805	chr5:177885167-177885168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376482136	chr5:177885168-177885169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57195029	chr5:177885171-177885172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532777886	chr5:177885204-177885205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Thoracic aortic aneurysm	21092924	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
small cell lung cancer	20016488	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177856800-177887200	Weak transcription	Right Atrium	heart
2	chr5:177874600-177888200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:177877600-177894200	Weak transcription	Spleen	Spleen
4	chr5:177877800-177895400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:177878000-177888000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:177880800-177888000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:177881000-177887400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:177881600-177888000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:177881800-177887400	Weak transcription	Fetal Thymus	thymus
10	chr5:177882800-177887600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:177882800-177888000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:177885000-177887200	Weak transcription	Fetal Stomach	stomach
13	chr5:177885200-177886400	Enhancers	Dnd41	blood

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