Variant report

Variant	esv3368533
Chromosome Location	chr5:9163452-9165450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3797919	chr5:9163462-9163463	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550853005	chr5:9163472-9163473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564230369	chr5:9163484-9163485	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181278842	chr5:9163485-9163486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546224649	chr5:9163552-9163553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150409061	chr5:9163570-9163571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535408914	chr5:9163578-9163579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548858119	chr5:9163600-9163601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77385289	chr5:9163663-9163664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386685318	chr5:9163667-9163668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76599159	chr5:9163668-9163669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577280857	chr5:9163691-9163692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573673482	chr5:9163698-9163699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138117485	chr5:9163699-9163700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115955886	chr5:9163705-9163706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544218793	chr5:9163738-9163739	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562413700	chr5:9163826-9163827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs194161	chr5:9163846-9163847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544807260	chr5:9163867-9163868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75996182	chr5:9163883-9163884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187265423	chr5:9163927-9163928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546286128	chr5:9163932-9163933	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559759992	chr5:9163933-9163934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79208420	chr5:9163948-9163949	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370235919	chr5:9163971-9163972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548525596	chr5:9163978-9163979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569154057	chr5:9164010-9164011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537712602	chr5:9164024-9164025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539056463	chr5:9164027-9164028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551584141	chr5:9164099-9164100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529515874	chr5:9164151-9164152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553936164	chr5:9164184-9164185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28622227	chr5:9164206-9164207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571329975	chr5:9164234-9164235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539985442	chr5:9164237-9164238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553493818	chr5:9164238-9164239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566929912	chr5:9164243-9164244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555552267	chr5:9164245-9164246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs70943944	chr5:9164265-9164266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6875962	chr5:9164278-9164279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59698705	chr5:9164338-9164339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112166616	chr5:9164345-9164346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555443494	chr5:9164361-9164362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575928300	chr5:9164364-9164365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56372622	chr5:9164379-9164380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558376938	chr5:9164483-9164484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184186763	chr5:9164484-9164485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377027982	chr5:9164487-9164488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186742948	chr5:9164528-9164529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3797920	chr5:9164538-9164539	Weak transcription	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:41 , 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	chr5:9145600-9235400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:9151000-9169000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:9151200-9168800	Weak transcription	NH-A	brain
6	chr5:9152400-9171800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:9153800-9183400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:9154000-9226200	Weak transcription	Fetal Intestine Large	intestine
9	chr5:9154800-9170200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:9154800-9173400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:9154800-9176200	Weak transcription	Fetal Intestine Small	intestine
12	chr5:9154800-9176400	Weak transcription	Aorta	Aorta
13	chr5:9155000-9174200	Weak transcription	Liver	Liver
14	chr5:9156800-9166600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:9156800-9171400	Weak transcription	Fetal Stomach	stomach
16	chr5:9157200-9164600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:9157400-9167000	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:9157600-9176400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:9157800-9168200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:9158000-9165600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:9158000-9167400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:9160400-9165400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:9161000-9165600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:9161200-9164000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:9161200-9166200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:9162200-9172000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:9162800-9164000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:9162800-9164000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:9163200-9163800	Enhancers	Fetal Heart	heart
30	chr5:9163200-9163800	Enhancers	Fetal Kidney	kidney
31	chr5:9163800-9189200	Weak transcription	Fetal Heart	heart
32	chr5:9164000-9165600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:9164000-9165600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:9164000-9168800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:9164600-9170200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:9164800-9165600	Enhancers	Brain Germinal Matrix	brain
37	chr5:9164800-9166800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:9165000-9165200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr5:9165000-9166600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:9165200-9185000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:9165400-9167200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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