Variant report

Variant	nsv462192
Chromosome Location	chr5:59360341-59474215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59109270..59110448-chr5:59456834..59458031,13	MCF-7	breast:
2	chr5:59105881..59106438-chr5:59456944..59457607,2	MCF-7	breast:
3	chr5:59105406..59106391-chr5:59457337..59458134,2	MCF-7	breast:
4	chr5:59109249..59110168-chr5:59456847..59457829,3	MCF-7	breast:

Extended variants
information (count: 3318 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3318 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374128631	chr5:59362262-59362263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563651855	chr5:59362271-59362272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78782661	chr5:59362282-59362283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13173263	chr5:59362299-59362300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114418730	chr5:59362313-59362314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13190657	chr5:59362319-59362320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186775080	chr5:59362337-59362338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4508982	chr5:59362339-59362340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371702006	chr5:59362345-59362346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192458391	chr5:59362409-59362410	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375683944	chr5:59362419-59362420	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72295722	chr5:59362420-59362421	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570313027	chr5:59362430-59362431	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558126057	chr5:59362432-59362433	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544141189	chr5:59362453-59362454	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397936461	chr5:59362455-59362456	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141395901	chr5:59362458-59362459	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13177765	chr5:59362465-59362466	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs150830306	chr5:59362475-59362476	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374052342	chr5:59362510-59362511	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184866069	chr5:59362536-59362537	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34670550	chr5:59362557-59362558	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140562236	chr5:59362610-59362611	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552138637	chr5:59362611-59362612	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565959757	chr5:59362664-59362665	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534652215	chr5:59362676-59362677	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34932216	chr5:59362681-59362682	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34913883	chr5:59362692-59362693	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574574086	chr5:59362695-59362696	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189335904	chr5:59362785-59362786	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557508244	chr5:59362801-59362802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368513952	chr5:59362805-59362806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577271742	chr5:59362810-59362811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546225057	chr5:59362835-59362836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193027614	chr5:59362843-59362844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532420846	chr5:59362869-59362870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34570495	chr5:59362895-59362896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573465108	chr5:59362942-59362943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542184479	chr5:59362945-59362946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185230036	chr5:59362990-59362991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144525037	chr5:59363025-59363026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147820997	chr5:59363040-59363041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12187454	chr5:59363058-59363059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532121496	chr5:59363120-59363121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189725343	chr5:59363166-59363167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78613975	chr5:59372404-59372405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548944214	chr5:59372436-59372437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575540659	chr5:59372463-59372464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35464774	chr5:59372476-59372477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568945172	chr5:59372478-59372479	Enhancers	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
Autism	22495311	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
Acute myeloid leukemia	20729466	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
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

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59362200-59363200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr5:59362200-59363200	Enhancers	NH-A	brain
3	chr5:59362400-59362800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr5:59362600-59363200	Enhancers	Hela-S3	cervix
5	chr5:59372400-59372800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:59372400-59373200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:59372600-59373200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:59372600-59373200	ZNF genes & repeats	Spleen	Spleen
9	chr5:59373200-59373600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:59377600-59378000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr5:59378000-59378600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:59378600-59379000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:59378600-59380400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:59379000-59380600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:59379400-59380000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:59379600-59380000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:59380200-59382400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:59380600-59382400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:59382400-59385200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr5:59382600-59382800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
21	chr5:59385200-59397800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:59388000-59388400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:59388000-59388800	Enhancers	NH-A	brain
24	chr5:59388000-59389000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:59388000-59389200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:59388000-59389200	Enhancers	Hela-S3	cervix
27	chr5:59388200-59389000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:59388200-59389400	Enhancers	A549	lung
29	chr5:59388800-59389000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:59389000-59391000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:59391000-59391200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:59391200-59392000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:59392000-59392800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:59393400-59393800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:59393800-59394800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:59394600-59395200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:59394800-59395000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:59395200-59397000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:59396400-59399400	Enhancers	Hela-S3	cervix
40	chr5:59397000-59399600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:59397200-59397400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:59397200-59397600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:59397200-59397600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:59397200-59397600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:59397200-59398400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr5:59397400-59398800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:59397600-59398400	Enhancers	Brain Germinal Matrix	brain
48	chr5:59397600-59398600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:59397600-59398600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:59397800-59398400	Enhancers	Monocytes-CD14+_RO01746	blood

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