Variant report

Variant	esv3343037
Chromosome Location	chr5:9162399-9162798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72741931	chr5:9162482-9162483	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72643789	chr5:9162494-9162495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3034740	chr5:9162495-9162496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370215909	chr5:9162515-9162516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4702610	chr5:9162516-9162517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201190472	chr5:9162517-9162518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34651058	chr5:9162518-9162519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35120433	chr5:9162520-9162521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72151722	chr5:9162523-9162524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4702611	chr5:9162524-9162525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201564163	chr5:9162526-9162527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4702612	chr5:9162532-9162533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190466968	chr5:9162534-9162535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200628086	chr5:9162568-9162569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs63749550	chr5:9162578-9162579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140387010	chr5:9162583-9162584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374737331	chr5:9162585-9162586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201634144	chr5:9162586-9162587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200018542	chr5:9162596-9162597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370012288	chr5:9162597-9162598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201039634	chr5:9162604-9162605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114859006	chr5:9162608-9162609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374678230	chr5:9162610-9162611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373862702	chr5:9162618-9162619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181644622	chr5:9162619-9162620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376261077	chr5:9162620-9162621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185098964	chr5:9162627-9162628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369923055	chr5:9162630-9162631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372173719	chr5:9162636-9162637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375668336	chr5:9162650-9162651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369463421	chr5:9162652-9162653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201253805	chr5:9162662-9162663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372998697	chr5:9162664-9162665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370069824	chr5:9162673-9162674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377491783	chr5:9162675-9162676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201870096	chr5:9162676-9162677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376550842	chr5:9162677-9162678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199900895	chr5:9162678-9162679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111891877	chr5:9162685-9162686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2387816	chr5:9162686-9162687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370982773	chr5:9162697-9162698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143558117	chr5:9162698-9162699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202124226	chr5:9162699-9162700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113578268	chr5:9162701-9162702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200444662	chr5:9162703-9162704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550645738	chr5:9162774-9162775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9136800-9176400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:9136800-9189000	Weak transcription	Pancreas	Pancrea
3	chr5:9145400-9163200	Weak transcription	Fetal Kidney	kidney
4	chr5:9145600-9235400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:9151000-9169000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:9151200-9168800	Weak transcription	NH-A	brain
7	chr5:9152400-9171800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:9153800-9183400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:9154000-9226200	Weak transcription	Fetal Intestine Large	intestine
10	chr5:9154800-9170200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:9154800-9173400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:9154800-9176200	Weak transcription	Fetal Intestine Small	intestine
13	chr5:9154800-9176400	Weak transcription	Aorta	Aorta
14	chr5:9155000-9174200	Weak transcription	Liver	Liver
15	chr5:9156800-9166600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:9156800-9171400	Weak transcription	Fetal Stomach	stomach
17	chr5:9157200-9164600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:9157400-9167000	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:9157600-9176400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:9157800-9168200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:9158000-9162800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:9158000-9165600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:9158000-9167400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:9159200-9163200	Weak transcription	Fetal Heart	heart
25	chr5:9159600-9162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:9160400-9165400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:9161000-9165600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:9161200-9164000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:9161200-9166200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:9162200-9172000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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