Variant report

Variant	esv3358822
Chromosome Location	chr5:68871796-68882594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542399694	chr5:68871836-68871837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560677545	chr5:68871844-68871845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558948482	chr5:68873294-68873295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546616910	chr5:68873706-68873707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571166619	chr5:68873740-68873741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79086191	chr5:68874513-68874514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62374265	chr5:68874943-68874944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371659095	chr5:68875616-68875617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532087382	chr5:68875639-68875640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376202089	chr5:68875651-68875652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551310033	chr5:68875685-68875686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569554753	chr5:68875686-68875687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536862328	chr5:68875690-68875691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201271819	chr5:68875691-68875692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555195802	chr5:68875710-68875711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566994828	chr5:68875735-68875736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534044325	chr5:68875943-68875944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs162955	chr5:68875960-68875961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558961930	chr5:68875987-68875988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577188485	chr5:68876581-68876582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3106290	chr5:68876635-68876636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551145669	chr5:68876641-68876642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544166608	chr5:68876687-68876688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556872520	chr5:68876711-68876712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199887403	chr5:68876910-68876911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75829006	chr5:68877091-68877092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575174041	chr5:68877286-68877287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542461231	chr5:68877301-68877302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs257509	chr5:68877335-68877336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199857838	chr5:68878277-68878278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113108396	chr5:68878284-68878285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528252649	chr5:68878285-68878286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539957586	chr5:68878286-68878287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113076805	chr5:68878768-68878769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564967144	chr5:68880512-68880513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532042612	chr5:68880571-68880572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5012305	chr5:68880729-68880730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs483294	chr5:68880827-68880828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377112207	chr5:68882560-68882561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68857000-68878200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:68857000-68883400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:68869200-68879000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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