Variant report

Variant	nsv964860
Chromosome Location	chr5:61510512-61548253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61539494..61542163-chr5:61560247..61562435,2	K562	blood:
2	chr5:61519364..61519935-chr5:61649639..61650264,2	MCF-7	breast:
3	chr5:61501169..61503856-chr5:61511488..61513182,2	K562	blood:
4	chr5:61520015..61520644-chr5:61649667..61650292,2	MCF-7	breast:
5	chr5:61541758..61543641-chr5:61554002..61556238,2	K562	blood:
6	chr5:61507042..61508881-chr5:61509033..61511948,2	K562	blood:
7	chr5:61513831..61515618-chr5:61821739..61824122,2	K562	blood:
8	chr5:61539663..61541258-chr5:61560288..61563274,2	K562	blood:

No data

Extended variants
information (count: 1452 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1452 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138636420	chr5:61510516-61510517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143364482	chr5:61510583-61510584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36005888	chr5:61510627-61510628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565181183	chr5:61510629-61510630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13167065	chr5:61510636-61510637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540460543	chr5:61510664-61510665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527451979	chr5:61510726-61510727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74948671	chr5:61510846-61510847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71617422	chr5:61510917-61510918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71617423	chr5:61510920-61510921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13167514	chr5:61510933-61510934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398084157	chr5:61510953-61510954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs66815855	chr5:61510957-61510958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60879508	chr5:61510959-61510960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199864261	chr5:61510960-61510961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550406016	chr5:61511227-61511228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs140094858	chr5:61511239-61511240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572428671	chr5:61511292-61511293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535185310	chr5:61511379-61511380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs554900733	chr5:61511394-61511395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150024333	chr5:61511395-61511396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs543592710	chr5:61511420-61511421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs115243843	chr5:61511434-61511435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs115669620	chr5:61511453-61511454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs148752166	chr5:61511502-61511503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562462552	chr5:61511505-61511506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs142320049	chr5:61511534-61511535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs57935172	chr5:61511666-61511667	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547544288	chr5:61511682-61511683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560974754	chr5:61511685-61511686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577143828	chr5:61511703-61511704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529790321	chr5:61511707-61511708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78268696	chr5:61511708-61511709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs548472801	chr5:61511736-61511737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs114779254	chr5:61511755-61511756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs569417906	chr5:61511774-61511775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs566799854	chr5:61511840-61511841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372234617	chr5:61511861-61511862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs144818709	chr5:61511862-61511863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559410723	chr5:61511863-61511864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs534009844	chr5:61511870-61511871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs55842202	chr5:61511871-61511872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs551772217	chr5:61511912-61511913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115651427	chr5:61511955-61511956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs146800839	chr5:61511967-61511968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs552440694	chr5:61512003-61512004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374699663	chr5:61512014-61512015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191963006	chr5:61512079-61512080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183234224	chr5:61512086-61512087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369048250	chr5:61512105-61512106	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61510400-61511000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:61511200-61512000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:61512000-61517800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:61513600-61514400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:61514200-61515000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:61515400-61515800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:61517400-61518400	Enhancers	Fetal Intestine Small	intestine
8	chr5:61517400-61519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:61517600-61518000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
10	chr5:61517600-61518200	Enhancers	Fetal Intestine Large	intestine
11	chr5:61517600-61518600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:61517800-61518000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:61517800-61518000	Enhancers	K562	blood
14	chr5:61517800-61518000	Enhancers	NHDF-Ad	bronchial
15	chr5:61517800-61518000	Enhancers	Osteobl	bone
16	chr5:61517800-61518200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:61517800-61519200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:61518000-61518200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:61518000-61518200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:61518000-61519200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:61518200-61518400	Enhancers	HepG2	liver
22	chr5:61518200-61518600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:61518200-61518800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:61518400-61519600	Weak transcription	Fetal Intestine Small	intestine
25	chr5:61518400-61519800	Weak transcription	K562	blood
26	chr5:61518600-61518800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:61518600-61519400	Enhancers	Osteobl	bone
28	chr5:61518600-61519800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:61518800-61519000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:61518800-61519400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:61519000-61519200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:61519000-61519200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:61519000-61519400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr5:61519000-61520000	Weak transcription	HepG2	liver
35	chr5:61519200-61519400	Enhancers	Primary B cells from peripheral blood	blood
36	chr5:61519200-61519800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:61519200-61520000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:61519200-61520000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:61519200-61520200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:61519400-61519600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr5:61519400-61519800	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr5:61519400-61519800	Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr5:61519400-61519800	Active TSS	Primary B cells from peripheral blood	blood
44	chr5:61519400-61519800	Active TSS	Primary T cells fromperipheralblood	blood
45	chr5:61519400-61519800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:61519400-61519800	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:61519400-61519800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:61519400-61519800	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr5:61519400-61519800	Active TSS	Adipose Nuclei	Adipose
50	chr5:61519400-61519800	Active TSS	Brain Hippocampus Middle	brain

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