Variant report

Variant	esv3335603
Chromosome Location	chr5:9399902-9401900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17256926	chr5:9399928-9399929	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556859806	chr5:9400024-9400025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs60500303	chr5:9400037-9400038	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146742005	chr5:9400061-9400062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs139328085	chr5:9400066-9400067	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2696366	chr5:9400072-9400073	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541484982	chr5:9400077-9400078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576484477	chr5:9400088-9400089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369027523	chr5:9400117-9400118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561753234	chr5:9400118-9400119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376020888	chr5:9400129-9400130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs530507784	chr5:9400155-9400156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543800806	chr5:9400185-9400186	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs550692528	chr5:9400217-9400218	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186669064	chr5:9400229-9400230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs535452909	chr5:9400248-9400249	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191329433	chr5:9400282-9400283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs35824054	chr5:9400294-9400295	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs373150958	chr5:9400396-9400397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs377678578	chr5:9400411-9400412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568474562	chr5:9400428-9400429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2696367	chr5:9400508-9400509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557076772	chr5:9400532-9400533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2950651	chr5:9400534-9400535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184614893	chr5:9400548-9400549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148078550	chr5:9400561-9400562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552822437	chr5:9400569-9400570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572781407	chr5:9400573-9400574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188736541	chr5:9400596-9400597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9885406	chr5:9400613-9400614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113897289	chr5:9400622-9400623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573310568	chr5:9400641-9400642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1209593	chr5:9400730-9400731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377454110	chr5:9400764-9400765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542143849	chr5:9400777-9400778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561519011	chr5:9400783-9400784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575243130	chr5:9400840-9400841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1195000	chr5:9400842-9400843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149922342	chr5:9400865-9400866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532718806	chr5:9400869-9400870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540831367	chr5:9400870-9400871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200504197	chr5:9400880-9400881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546441820	chr5:9400921-9400922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560015889	chr5:9400971-9400972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78147291	chr5:9400972-9400973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548901972	chr5:9400977-9400978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560122080	chr5:9401029-9401030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568358618	chr5:9401054-9401055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530934521	chr5:9401071-9401072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145279386	chr5:9401074-9401075	Weak 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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9373200-9409400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:9374800-9418600	Weak transcription	Aorta	Aorta
3	chr5:9379000-9434800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:9379000-9436200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:9380200-9429800	Weak transcription	Ovary	ovary
6	chr5:9380400-9418600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:9380400-9418800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:9380600-9419400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:9387000-9418800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:9390200-9419200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:9391600-9403800	Weak transcription	Pancreas	Pancrea
12	chr5:9392200-9419000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:9394600-9409400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:9394800-9408000	Weak transcription	Left Ventricle	heart
15	chr5:9395800-9450200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:9396000-9403400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:9397000-9419400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:9398600-9402000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:9398600-9416200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:9398600-9435600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:9399200-9407800	Weak transcription	Fetal Heart	heart
22	chr5:9399800-9400400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr5:9400400-9402400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:9401200-9403400	Enhancers	Liver	Liver

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