Variant report

Variant	esv2763463
Chromosome Location	chr5:70696116-70706061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 269 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576442381	chr5:70696128-70696129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543557658	chr5:70696146-70696147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146884588	chr5:70696163-70696164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376174190	chr5:70696185-70696186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562258778	chr5:70696218-70696219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574144927	chr5:70696230-70696231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184979265	chr5:70696282-70696283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559587805	chr5:70696287-70696288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369323755	chr5:70696356-70696357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143305664	chr5:70696362-70696363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550920568	chr5:70696432-70696433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563139303	chr5:70696463-70696464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530573407	chr5:70696477-70696478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71578765	chr5:70696481-70696482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548794158	chr5:70696488-70696489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567389264	chr5:70696491-70696492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71578766	chr5:70696602-70696603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71578767	chr5:70696617-70696618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534788966	chr5:70696657-70696658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546839723	chr5:70696658-70696659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71578768	chr5:70696663-70696664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553051768	chr5:70696813-70696814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71609267	chr5:70696890-70696891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577711176	chr5:70696909-70696910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71609268	chr5:70696937-70696938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71609269	chr5:70696947-70696948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148408934	chr5:70697007-70697008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190268312	chr5:70697022-70697023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576358302	chr5:70697047-70697048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142658452	chr5:70697060-70697061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555566430	chr5:70697066-70697067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573816010	chr5:70697078-70697079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541191137	chr5:70697084-70697085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71609270	chr5:70697087-70697088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71609271	chr5:70697100-70697101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191757394	chr5:70697118-70697119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10213992	chr5:70697244-70697245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545373394	chr5:70697270-70697271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184341994	chr5:70697312-70697313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188214508	chr5:70697322-70697323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542635871	chr5:70697336-70697337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114289217	chr5:70697388-70697389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373932150	chr5:70697496-70697497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528211865	chr5:70697588-70697589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546778512	chr5:70697605-70697606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571471349	chr5:70697644-70697645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563516723	chr5:70697716-70697717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376899128	chr5:70697742-70697743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550594152	chr5:70697757-70697758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569170011	chr5:70697832-70697833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70694800-70698400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:70694800-70698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:70694800-70698800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:70694800-70700200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:70698400-70699000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:70698600-70698800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:70698600-70699000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:70698600-70699000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:70698800-70699200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:70698800-70699400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:70698800-70700800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:70699000-70699600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:70699000-70700600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:70699200-70700800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:70699400-70699600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:70699600-70700000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:70699600-70707000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:70700000-70700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:70700200-70701800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:70700400-70700600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:70700600-70700800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:70700600-70701600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:70700800-70701200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:70700800-70702000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:70700800-70702000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:70700800-70702400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:70701200-70702400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:70701400-70701800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:70701600-70702000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:70701600-70702000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:70702000-70706800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:70702000-70717400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:70702400-70707200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:70702400-70717600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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