Variant report

Variant	nsv519704
Chromosome Location	chr5:9343913-9343999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:9343940..9346581-chr5:9348697..9351232,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1205725	chr5:9343913-9343914	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147892790	chr5:9343917-9343918	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573638535	chr5:9343925-9343926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs200239991	chr5:9343936-9343937	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1205724	chr5:9343999-9344000	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Lung adenocarcinoma	17982442	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9308800-9346600	Weak transcription	Ovary	ovary
2	chr5:9331200-9346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:9332600-9349000	Weak transcription	Right Ventricle	heart
4	chr5:9332800-9346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:9332800-9346200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:9332800-9346600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:9332800-9348000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:9332800-9372400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:9333000-9346400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:9335200-9345000	Weak transcription	Left Ventricle	heart
11	chr5:9335800-9346200	Weak transcription	Fetal Stomach	stomach
12	chr5:9337000-9348600	Weak transcription	Liver	Liver
13	chr5:9337200-9347400	Weak transcription	Fetal Intestine Large	intestine
14	chr5:9338200-9348200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:9339200-9346200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:9340600-9356600	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:9341000-9346400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:9341200-9346200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:9341200-9348800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:9341600-9346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:9341600-9348800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:9342400-9344000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:9342400-9344200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:9342600-9344200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:9342600-9347000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr5:9342600-9354600	Weak transcription	Pancreas	Pancrea
27	chr5:9342800-9344000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:9342800-9344200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:9342800-9344200	Enhancers	Osteobl	bone
30	chr5:9343000-9345800	Enhancers	Fetal Heart	heart
31	chr5:9343200-9344000	Enhancers	NHLF	lung
32	chr5:9343200-9345200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:9343400-9344000	Flanking Active TSS	NHEK	skin
34	chr5:9343400-9344200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:9343600-9345400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:9343600-9347800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:9343800-9344000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:9343800-9344000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:9343800-9344000	Flanking Active TSS	HMEC	breast
40	chr5:9343800-9344200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:9343800-9345600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:9343800-9347200	Weak transcription	NHDF-Ad	bronchial
43	chr5:9343800-9348000	Weak transcription	NH-A	brain
44	chr5:9343800-9348200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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