Variant report

Variant	esv3401319
Chromosome Location	chr5:70701746-70703744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188374173	chr5:70701746-70701747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535185426	chr5:70701749-70701750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111450673	chr5:70701761-70701762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372728674	chr5:70701775-70701776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571906326	chr5:70701798-70701799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192280045	chr5:70701806-70701807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184114977	chr5:70701809-70701810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375029442	chr5:70701825-70701826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538732642	chr5:70701840-70701841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546088166	chr5:70701873-70701874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143102226	chr5:70701894-70701895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544564442	chr5:70701906-70701907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs5005863	chr5:70701990-70701991	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542342264	chr5:70701999-70702000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187052391	chr5:70702016-70702017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7380012	chr5:70702050-70702051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191854808	chr5:70702083-70702084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564773609	chr5:70702098-70702099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531915557	chr5:70702308-70702309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114088597	chr5:70702364-70702365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567708950	chr5:70702446-70702447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535124778	chr5:70702456-70702457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547067262	chr5:70702551-70702552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565469708	chr5:70702648-70702649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184122783	chr5:70702693-70702694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189499429	chr5:70702706-70702707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576236956	chr5:70702717-70702718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62372727	chr5:70702820-70702821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573167347	chr5:70702830-70702831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540468377	chr5:70702856-70702857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182068149	chr5:70702861-70702862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545340907	chr5:70702961-70702962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185794650	chr5:70703009-70703010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574865419	chr5:70703039-70703040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565053802	chr5:70703117-70703118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542280664	chr5:70703124-70703125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188873941	chr5:70703155-70703156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543988536	chr5:70703423-70703424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562562074	chr5:70703424-70703425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546332347	chr5:70703443-70703444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200669212	chr5:70703515-70703516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564534515	chr5:70703533-70703534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529660603	chr5:70703536-70703537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376722640	chr5:70703579-70703580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550204252	chr5:70703583-70703584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562071660	chr5:70703586-70703587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540652380	chr5:70703632-70703633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528842017	chr5:70703633-70703634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547002878	chr5:70703638-70703639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565407547	chr5:70703654-70703655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Spinal muscular atrophy	21762474	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
Breast cancer	21785460	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70699600-70707000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:70700200-70701800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:70700800-70702000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:70700800-70702000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:70700800-70702400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:70701200-70702400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:70701400-70701800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:70701600-70702000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:70701600-70702000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:70702000-70706800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:70702000-70717400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:70702400-70707200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:70702400-70717600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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