Variant report

Variant	nsv597072
Chromosome Location	chr5:9423834-9438566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 606 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17258120	chr5:9423834-9423835	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185668449	chr5:9423857-9423858	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148476837	chr5:9423923-9423924	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547761242	chr5:9423932-9423933	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142642690	chr5:9423965-9423966	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190436434	chr5:9423995-9423996	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs118006401	chr5:9424082-9424083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34956997	chr5:9424104-9424105	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4702625	chr5:9424130-9424131	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs532152479	chr5:9424131-9424132	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551789450	chr5:9424246-9424247	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199716679	chr5:9424286-9424287	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200858436	chr5:9424296-9424297	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146483978	chr5:9424318-9424319	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534644804	chr5:9424339-9424340	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111788250	chr5:9424344-9424345	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567975807	chr5:9424373-9424374	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537117303	chr5:9424414-9424415	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140967497	chr5:9424473-9424474	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78387218	chr5:9424476-9424477	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547477894	chr5:9424493-9424494	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559237156	chr5:9424500-9424501	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182626702	chr5:9424508-9424509	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80076589	chr5:9424551-9424552	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145056888	chr5:9424598-9424599	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530061869	chr5:9424609-9424610	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543826401	chr5:9424618-9424619	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563425805	chr5:9424636-9424637	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62343772	chr5:9424661-9424662	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202173959	chr5:9424667-9424668	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555703045	chr5:9424670-9424671	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555201564	chr5:9424673-9424674	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377214299	chr5:9424686-9424687	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374824230	chr5:9424695-9424696	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577572338	chr5:9424719-9424720	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571414076	chr5:9424750-9424751	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565539345	chr5:9424751-9424752	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528345266	chr5:9424757-9424758	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187632555	chr5:9424783-9424784	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112724950	chr5:9424789-9424790	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7724626	chr5:9424801-9424802	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs536622619	chr5:9424886-9424887	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113619595	chr5:9424968-9424969	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557030540	chr5:9424976-9424977	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13152886	chr5:9424977-9424978	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs193222451	chr5:9424998-9424999	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539589666	chr5:9425004-9425005	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559148534	chr5:9425082-9425083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572693846	chr5:9425088-9425089	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146808010	chr5:9425096-9425097	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9379000-9434800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:9379000-9436200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:9380200-9429800	Weak transcription	Ovary	ovary
4	chr5:9395800-9450200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:9398600-9435600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:9411000-9430400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:9411800-9426800	Weak transcription	Fetal Intestine Large	intestine
8	chr5:9417800-9438600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:9419200-9424800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:9419400-9430000	Weak transcription	Colonic Mucosa	Colon
11	chr5:9419600-9431600	Weak transcription	Pancreas	Pancrea
12	chr5:9419800-9424600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:9419800-9424800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:9419800-9425400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:9419800-9430600	Weak transcription	Esophagus	oesophagus
16	chr5:9420400-9429600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:9420400-9429800	Weak transcription	Fetal Stomach	stomach
18	chr5:9420600-9430000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:9421000-9429800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:9421400-9431600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:9421600-9425200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:9422200-9424400	Enhancers	Fetal Lung	lung
23	chr5:9422400-9425200	Weak transcription	Fetal Kidney	kidney
24	chr5:9422400-9431400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:9422800-9437000	Weak transcription	Aorta	Aorta
26	chr5:9423200-9424000	Enhancers	Left Ventricle	heart
27	chr5:9423200-9424400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:9423200-9424600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:9423200-9424800	Enhancers	NHDF-Ad	bronchial
30	chr5:9423200-9425200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:9423400-9424200	Enhancers	Osteobl	bone
32	chr5:9423400-9426600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:9423400-9431800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:9423600-9424000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr5:9423600-9424400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:9423600-9424400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:9423800-9424200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:9423800-9424200	Enhancers	Fetal Muscle Leg	muscle
39	chr5:9423800-9424200	Weak transcription	NHLF	lung
40	chr5:9423800-9424400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:9423800-9424400	Enhancers	Fetal Heart	heart
42	chr5:9423800-9424600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:9423800-9430600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:9423800-9431400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:9424000-9427200	Weak transcription	Left Ventricle	heart
46	chr5:9424000-9431400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:9424200-9424400	Enhancers	NHLF	lung
48	chr5:9424200-9430600	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:9424400-9424800	Weak transcription	Fetal Heart	heart
50	chr5:9424400-9425400	Weak transcription	Fetal Lung	lung

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