Variant report

Variant	esv2222166
Chromosome Location	chr5:179522974-179523428
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	chr5:179520784..179524151-chr5:179524824..179530890,7	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560366971	chr5:179522987-179522988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115478691	chr5:179522996-179522997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564819539	chr5:179522997-179522998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563876806	chr5:179523023-179523024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190427508	chr5:179523116-179523117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113990743	chr5:179523121-179523122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371776539	chr5:179523122-179523123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148145746	chr5:179523160-179523161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200217040	chr5:179523171-179523172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201589340	chr5:179523180-179523181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201469977	chr5:179523181-179523182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113723765	chr5:179523183-179523184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10041471	chr5:179523187-179523188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10044890	chr5:179523197-179523198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191055654	chr5:179523201-179523202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182280144	chr5:179523205-179523206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185174216	chr5:179523206-179523207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189643878	chr5:179523213-179523214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183418222	chr5:179523214-179523215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557674051	chr5:179523228-179523229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193156224	chr5:179523248-179523249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183254195	chr5:179523262-179523263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567114919	chr5:179523281-179523282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534169713	chr5:179523285-179523286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188323329	chr5:179523309-179523310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191681682	chr5:179523311-179523312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184105939	chr5:179523364-179523365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538326387	chr5:179523368-179523369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556660710	chr5:179523376-179523377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574761189	chr5:179523377-179523378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535793615	chr5:179523391-179523392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553789668	chr5:179523395-179523396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572293762	chr5:179523397-179523398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545724784	chr5:179523401-179523402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179518400-179542800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:179519400-179523600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:179522000-179523000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:179523000-179524000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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