Variant report

Variant	nsv527374
Chromosome Location	chr5:80938095-80964452
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:80937480..80940256-chr5:80940937..80944282,3	K562	blood:
2	chr5:80940231..80942233-chr5:81040176..81042074,2	K562	blood:
3	chr5:80961823..80964261-chr5:80965222..80967772,3	K562	blood:
4	chr5:80934108..80935930-chr5:80938567..80940586,2	K562	blood:
5	chr5:80946322..80948172-chr5:80949841..80952303,2	K562	blood:
6	chr5:80937480..80940256-chr5:80940937..80944282,3	K562	blood:
7	chr5:80959308..80961024-chr5:81090290..81092398,2	K562	blood:
8	chr5:80961632..80964415-chr5:80970591..80972149,2	MCF-7	breast:
9	chr5:80946322..80948172-chr5:80949841..80952303,2	K562	blood:

No data

Extended variants
information (count: 877 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs863772	chr5:80938095-80938096	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544198383	chr5:80938183-80938184	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562357004	chr5:80938220-80938221	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16899013	chr5:80938264-80938265	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192313971	chr5:80938266-80938267	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74909845	chr5:80938343-80938344	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183279223	chr5:80938355-80938356	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571795700	chr5:80938470-80938471	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12521077	chr5:80938476-80938477	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs6897943	chr5:80938489-80938490	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547195083	chr5:80938506-80938507	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138313291	chr5:80938537-80938538	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537763829	chr5:80938555-80938556	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556099135	chr5:80938647-80938648	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571556620	chr5:80938653-80938654	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75875182	chr5:80938689-80938690	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553966616	chr5:80938708-80938709	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149570070	chr5:80938718-80938719	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543220380	chr5:80938736-80938737	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527334637	chr5:80938800-80938801	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111700194	chr5:80938840-80938841	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373132284	chr5:80938897-80938898	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544135182	chr5:80938924-80938925	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377351402	chr5:80938949-80938950	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562456734	chr5:80938985-80938986	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532787773	chr5:80938986-80938987	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370790177	chr5:80939009-80939010	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545027848	chr5:80939016-80939017	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559974862	chr5:80939029-80939030	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187343754	chr5:80939042-80939043	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548734752	chr5:80939067-80939068	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193000163	chr5:80939080-80939081	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531456564	chr5:80939112-80939113	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549807186	chr5:80939119-80939120	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571561444	chr5:80939187-80939188	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2921499	chr5:80939189-80939190	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536916454	chr5:80939195-80939196	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554168140	chr5:80939216-80939217	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539426588	chr5:80939220-80939221	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566009740	chr5:80939239-80939240	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7723702	chr5:80939245-80939246	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555157112	chr5:80939254-80939255	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184812353	chr5:80939287-80939288	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537688483	chr5:80939316-80939317	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558975785	chr5:80939334-80939335	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577499138	chr5:80939343-80939344	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71636282	chr5:80939352-80939353	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs71636283	chr5:80939358-80939359	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370305753	chr5:80939413-80939414	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373733028	chr5:80939414-80939415	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	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
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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Tetralogy of Fallot	22912587	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
2	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
4	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
5	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
6	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
9	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung
10	chr5:80920600-80946800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
12	chr5:80923000-80952800	Weak transcription	Fetal Intestine Large	intestine
13	chr5:80923200-80942000	Weak transcription	Fetal Intestine Small	intestine
14	chr5:80923200-80947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:80923200-80948400	Weak transcription	K562	blood
16	chr5:80923400-80938400	Weak transcription	HUVEC	blood vessel
17	chr5:80924200-80962800	Weak transcription	Ovary	ovary
18	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:80926200-80943200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:80926200-80943400	Weak transcription	Fetal Kidney	kidney
21	chr5:80926200-80947000	Weak transcription	Fetal Brain Male	brain
22	chr5:80928600-80943600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:80929600-80940200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:80930000-80940000	Weak transcription	GM12878-XiMat	blood
25	chr5:80930400-80947400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:80930800-80945000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:80930800-80953400	Weak transcription	Right Ventricle	heart
28	chr5:80931000-80952800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:80932200-80943600	Weak transcription	Fetal Brain Female	brain
30	chr5:80932200-80952000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:80932200-80952200	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:80932200-80952800	Weak transcription	Adipose Nuclei	Adipose
33	chr5:80932400-80942600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:80932400-80963000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:80932800-80940200	Weak transcription	Primary B cells from cord blood	blood
36	chr5:80932800-80947400	Weak transcription	Primary T cells from cord blood	blood
37	chr5:80933000-80938800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:80933000-80944200	Weak transcription	Thymus	Thymus
39	chr5:80933400-80938600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:80935000-80945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:80935200-80941800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:80935400-80938800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:80935400-80949400	Weak transcription	HSMMtube	muscle
44	chr5:80935600-80943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:80935600-80947600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:80935800-80939400	Weak transcription	NHLF	lung
47	chr5:80935800-80946800	Weak transcription	HSMM	muscle
48	chr5:80935800-80951800	Weak transcription	NHDF-Ad	bronchial
49	chr5:80936000-80943200	Weak transcription	Osteobl	bone
50	chr5:80936000-80951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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