Variant report

Variant	esv2268153
Chromosome Location	chr5:124363645-124364371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529916952	chr5:124363659-124363660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548379750	chr5:124363673-124363674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560423314	chr5:124363746-124363747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373286809	chr5:124363761-124363762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183661082	chr5:124363796-124363797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547161082	chr5:124363850-124363851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571761388	chr5:124363851-124363852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138537552	chr5:124363858-124363859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564345522	chr5:124363859-124363860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550653754	chr5:124363869-124363870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188781122	chr5:124363875-124363876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559211725	chr5:124363911-124363912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56201628	chr5:124363947-124363948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192380892	chr5:124363968-124363969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370491672	chr5:124363993-124363994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55825334	chr5:124363994-124363995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56398207	chr5:124363997-124363998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573131350	chr5:124363999-124364000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374941739	chr5:124364085-124364086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534125356	chr5:124364126-124364127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558238223	chr5:124364170-124364171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370694598	chr5:124364175-124364176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375371510	chr5:124364178-124364179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560808791	chr5:124364298-124364299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10059682	chr5:124364315-124364316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367598497	chr5:124364321-124364322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182351257	chr5:124364348-124364349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124362400-124363800	Enhancers	Fetal Heart	heart
2	chr5:124363000-124368000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:124363000-124368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:124363400-124365000	Weak transcription	Pancreas	Pancrea
5	chr5:124363400-124367000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:124363400-124367800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:124363400-124367800	Weak transcription	Gastric	stomach
8	chr5:124363400-124377600	Weak transcription	Fetal Kidney	kidney
9	chr5:124363600-124364800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:124363600-124367600	Weak transcription	Adipose Nuclei	Adipose
11	chr5:124363600-124370000	Weak transcription	Stomach Mucosa	stomach
12	chr5:124363800-124365000	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links