Variant report

Variant	nsv980954
Chromosome Location	chr5:62079527-62102370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:62080331..62084292-chr5:62086443..62088883,3	K562	blood:
2	chr5:62078011..62080327-chr5:62081236..62083654,2	K562	blood:
3	chr5:62078011..62080327-chr5:62081236..62083654,2	K562	blood:
4	chr5:62080331..62084292-chr5:62086443..62088883,3	K562	blood:

Extended variants
information (count: 275 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:275 , 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	rs578240359	chr5:62079536-62079537	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs574790693	chr5:62079540-62079541	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs921026	chr5:62079553-62079554	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369026152	chr5:62079554-62079555	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190065057	chr5:62079558-62079559	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs545498897	chr5:62079566-62079567	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs183028860	chr5:62079568-62079569	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572567115	chr5:62079601-62079602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147899828	chr5:62079606-62079607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562442325	chr5:62079654-62079655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs116780350	chr5:62079661-62079662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs568630085	chr5:62079778-62079779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2591798	chr5:62079787-62079788	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369129055	chr5:62079797-62079798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556123009	chr5:62083854-62083855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs531786741	chr5:62083862-62083863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs149652144	chr5:62083908-62083909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs114834685	chr5:62083909-62083910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557537683	chr5:62083970-62083971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs577668290	chr5:62083981-62083982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs144383937	chr5:62083988-62083989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs560294091	chr5:62084016-62084017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115916278	chr5:62084029-62084030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186364002	chr5:62084053-62084054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190893549	chr5:62084072-62084073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530786656	chr5:62084107-62084108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10058718	chr5:62084114-62084115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs4441834	chr5:62084193-62084194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58204958	chr5:62084195-62084196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185170	chr5:62084196-62084197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533455790	chr5:62084210-62084211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182770730	chr5:62084250-62084251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs251168	chr5:62084271-62084272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188058861	chr5:62084288-62084289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148780191	chr5:62084289-62084290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375236175	chr5:62084319-62084320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569589844	chr5:62084369-62084370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537793046	chr5:62084380-62084381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199766705	chr5:62084451-62084452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76365143	chr5:62084465-62084466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62375168	chr5:62084467-62084468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566219885	chr5:62084472-62084473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557741772	chr5:62084501-62084502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs903420	chr5:62084506-62084507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191028608	chr5:62084513-62084514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367839376	chr5:62084620-62084621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371979563	chr5:62084621-62084622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397713182	chr5:62084622-62084623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200879341	chr5:62084625-62084626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183223796	chr5:62084672-62084673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Non-small cell lung cancer	21829676	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
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	20729466	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
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:62078800-62079600	Enhancers	GM12878-XiMat	blood
2	chr5:62079000-62079600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr5:62079200-62079600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:62079400-62079600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:62079600-62079800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:62083800-62084000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:62084000-62086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:62086000-62086800	Enhancers	Liver	Liver
9	chr5:62086200-62087000	Enhancers	Ovary	ovary
10	chr5:62100200-62100800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:62100200-62101000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:62100200-62101200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:62100200-62101400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:62100400-62100800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr5:62100400-62100800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:62100400-62100800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr5:62100400-62100800	Active TSS	Pancreas	Pancrea
18	chr5:62100400-62101000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr5:62100400-62101000	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr5:62100400-62101200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:62100400-62101200	Active TSS	K562	blood
22	chr5:62100800-62101200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:62100800-62101200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:62100800-62101200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:62100800-62102200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr5:62101000-62101200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:62101000-62101400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:62101000-62101400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr5:62101200-62101400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:62101400-62102200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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