Variant report

Variant	nsv980974
Chromosome Location	chr5:59133592-59138445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150306922	chr5:59133597-59133598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138317401	chr5:59133611-59133612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552455461	chr5:59133622-59133623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372559660	chr5:59133631-59133632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74427412	chr5:59133693-59133694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375592615	chr5:59133739-59133740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183014061	chr5:59133743-59133744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540225540	chr5:59133776-59133777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565046712	chr5:59133828-59133829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532421089	chr5:59133857-59133858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574895490	chr5:59133875-59133876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73761004	chr5:59133884-59133885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186676396	chr5:59133967-59133968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546269182	chr5:59133983-59133984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556341900	chr5:59133988-59133989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191563369	chr5:59134054-59134055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149211051	chr5:59134077-59134078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184828008	chr5:59134079-59134080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553241564	chr5:59134108-59134109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571743348	chr5:59134174-59134175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550810590	chr5:59134216-59134217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373972329	chr5:59134248-59134249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540601773	chr5:59134359-59134360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560694999	chr5:59134389-59134390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188081083	chr5:59134393-59134394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562735494	chr5:59134429-59134430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538224152	chr5:59134439-59134440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543110915	chr5:59134479-59134480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143402028	chr5:59134512-59134513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10514882	chr5:59134525-59134526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552546960	chr5:59134597-59134598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548844565	chr5:59134598-59134599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541791859	chr5:59134652-59134653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567025227	chr5:59134688-59134689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565967992	chr5:59134690-59134691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561665891	chr5:59134728-59134729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139204355	chr5:59134747-59134748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568319883	chr5:59134818-59134819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537553669	chr5:59134841-59134842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192886118	chr5:59134901-59134902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552162686	chr5:59134903-59134904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571065359	chr5:59134919-59134920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs171745	chr5:59134993-59134994	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185127778	chr5:59135012-59135013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556426283	chr5:59135037-59135038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57742530	chr5:59135068-59135069	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190007123	chr5:59135134-59135135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55978420	chr5:59135183-59135184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574306222	chr5:59135210-59135211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543553159	chr5:59135242-59135243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59110400-59139000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:59128000-59136000	Enhancers	Hela-S3	cervix
3	chr5:59128200-59160400	Weak transcription	Aorta	Aorta
4	chr5:59129600-59135200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:59129600-59135800	Weak transcription	HSMM	muscle
6	chr5:59129800-59143000	Weak transcription	Fetal Brain Male	brain
7	chr5:59130200-59135800	Weak transcription	HSMMtube	muscle
8	chr5:59132400-59135600	Weak transcription	NH-A	brain
9	chr5:59133000-59135200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:59134000-59135000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:59134200-59134600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:59134200-59135600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:59134600-59141400	Weak transcription	Primary B cells from cord blood	blood
14	chr5:59135200-59137200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:59135200-59139600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:59135400-59136000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:59135400-59137000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:59135600-59137800	Enhancers	NH-A	brain
19	chr5:59135800-59136600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:59135800-59136600	Enhancers	HSMMtube	muscle
21	chr5:59135800-59136800	Enhancers	HSMM	muscle
22	chr5:59136000-59136600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:59136000-59136600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:59136000-59137000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:59136000-59137200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:59136000-59137200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:59136000-59137200	Flanking Active TSS	Hela-S3	cervix
28	chr5:59136000-59137400	Enhancers	NHLF	lung
29	chr5:59136200-59136600	Enhancers	Fetal Lung	lung
30	chr5:59136200-59136800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:59136200-59136800	Enhancers	Small Intestine	intestine
32	chr5:59136200-59137000	Bivalent Enhancer	HUVEC	blood vessel
33	chr5:59136400-59137200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:59136400-59138000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:59136400-59138400	Enhancers	NHEK	skin
36	chr5:59136600-59137400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:59136600-59139000	Weak transcription	HSMMtube	muscle
38	chr5:59136600-59139400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:59136800-59137200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:59136800-59137200	Weak transcription	Small Intestine	intestine
41	chr5:59136800-59139000	Weak transcription	HSMM	muscle
42	chr5:59137000-59137600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:59137000-59138200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr5:59137200-59138000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:59137200-59138000	Enhancers	Small Intestine	intestine
46	chr5:59137200-59139000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:59137200-59139000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:59137200-59143400	Enhancers	Hela-S3	cervix
49	chr5:59137400-59137800	Weak transcription	NHLF	lung
50	chr5:59137400-59138000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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