Variant report

Variant	esv2421732
Chromosome Location	chr5:41571309-41583279
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	chr5:41580372..41581911-chr5:41585183..41587101,2	K562	blood:

Extended variants
information (count: 345 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs633407	chr5:41571309-41571310	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141783928	chr5:41571319-41571320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552658686	chr5:41571370-41571371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs570527907	chr5:41571371-41571372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538050680	chr5:41571395-41571396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7722506	chr5:41571414-41571415	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568351791	chr5:41571439-41571440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184928887	chr5:41571440-41571441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189762808	chr5:41571461-41571462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573659393	chr5:41571507-41571508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146565792	chr5:41571514-41571515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs677170	chr5:41571518-41571519	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150795810	chr5:41571568-41571569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557854262	chr5:41571576-41571577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs577318998	chr5:41571582-41571583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs676746	chr5:41571596-41571597	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562790109	chr5:41571606-41571607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs621609	chr5:41571642-41571643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542153201	chr5:41571655-41571656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560084840	chr5:41571698-41571699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34038951	chr5:41571711-41571712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181879467	chr5:41571761-41571762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527708668	chr5:41571769-41571770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113486823	chr5:41571778-41571779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368228411	chr5:41571780-41571781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139200783	chr5:41571789-41571790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531752452	chr5:41571818-41571819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6862536	chr5:41571825-41571826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568288019	chr5:41571856-41571857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546831631	chr5:41571873-41571874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535731235	chr5:41571902-41571903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566643752	chr5:41571905-41571906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192222748	chr5:41571908-41571909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149972505	chr5:41571952-41571953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181922467	chr5:41571966-41571967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs620185	chr5:41571967-41571968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569730705	chr5:41571977-41571978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144242133	chr5:41571993-41571994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572430108	chr5:41572002-41572003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556324076	chr5:41572034-41572035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs674512	chr5:41572075-41572076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs140787043	chr5:41572096-41572097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184973231	chr5:41572141-41572142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs36123986	chr5:41572168-41572169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572311771	chr5:41572199-41572200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546167477	chr5:41572290-41572291	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs673538	chr5:41572294-41572295	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531807301	chr5:41572302-41572303	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs28504578	chr5:41572303-41572304	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs561831046	chr5:41572312-41572313	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41570800-41571600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:41571600-41572200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:41572200-41572400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:41572400-41572800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:41572800-41573000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:41573000-41574200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:41574200-41575000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:41575000-41575400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:41575000-41576200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:41575000-41576200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:41575200-41576000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:41575200-41576000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:41575200-41576000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:41575200-41576000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:41575200-41576200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:41575200-41576400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:41575400-41576000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:41575400-41576000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:41575400-41576000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:41575400-41576200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:41575400-41576200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:41575400-41576400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:41576200-41577800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:41577800-41578400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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