Variant report

Variant	esv3363022
Chromosome Location	chr5:9154560-9154979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376715419	chr5:9154567-9154568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150848736	chr5:9154586-9154587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192481849	chr5:9154588-9154589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372816448	chr5:9154593-9154594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183885183	chr5:9154596-9154597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149803731	chr5:9154604-9154605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201297356	chr5:9154610-9154611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200939180	chr5:9154617-9154618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368090483	chr5:9154635-9154636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146836181	chr5:9154650-9154651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369476094	chr5:9154655-9154656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1806151	chr5:9154659-9154660	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373284907	chr5:9154663-9154664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377487102	chr5:9154665-9154666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372049311	chr5:9154667-9154668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527351946	chr5:9154683-9154684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370980340	chr5:9154708-9154709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375389733	chr5:9154718-9154719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145853006	chr5:9154719-9154720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200164050	chr5:9154737-9154738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373923556	chr5:9154744-9154745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138503384	chr5:9154774-9154775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530052137	chr5:9154777-9154778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138343991	chr5:9154783-9154784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200292451	chr5:9154784-9154785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369201156	chr5:9154798-9154799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1806150	chr5:9154803-9154804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147235999	chr5:9154807-9154808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375164033	chr5:9154823-9154824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552046287	chr5:9154846-9154847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571716167	chr5:9154867-9154868	Weak transcription Strong transcription Enhancers	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9134400-9156600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:9136800-9176400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:9136800-9189000	Weak transcription	Pancreas	Pancrea
4	chr5:9143600-9161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:9145000-9158000	Weak transcription	Esophagus	oesophagus
6	chr5:9145200-9157200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:9145200-9160800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:9145400-9163200	Weak transcription	Fetal Kidney	kidney
9	chr5:9145600-9235400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:9148600-9155600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:9150400-9156000	Weak transcription	Dnd41	blood
12	chr5:9151000-9169000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:9151200-9156400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:9151200-9168800	Weak transcription	NH-A	brain
15	chr5:9151600-9157800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:9151800-9154800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:9152000-9155200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr5:9152000-9155200	Strong transcription	Fetal Muscle Leg	muscle
19	chr5:9152000-9155400	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:9152200-9154800	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr5:9152400-9155400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:9152400-9155600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:9152400-9156400	Weak transcription	Spleen	Spleen
24	chr5:9152400-9156600	Weak transcription	Left Ventricle	heart
25	chr5:9152400-9171800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:9152600-9155200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:9152600-9156200	Weak transcription	NHDF-Ad	bronchial
28	chr5:9152600-9156200	Weak transcription	NHLF	lung
29	chr5:9152600-9157600	Weak transcription	Right Ventricle	heart
30	chr5:9153000-9155000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:9153400-9155000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:9153600-9154800	Strong transcription	Fetal Intestine Small	intestine
33	chr5:9153600-9155200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:9153600-9157800	Weak transcription	Fetal Heart	heart
35	chr5:9153800-9155400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:9153800-9183400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:9154000-9226200	Weak transcription	Fetal Intestine Large	intestine
38	chr5:9154200-9155400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:9154400-9154800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:9154400-9154800	Strong transcription	Aorta	Aorta
41	chr5:9154400-9154800	Strong transcription	Fetal Stomach	stomach
42	chr5:9154400-9155000	Strong transcription	Liver	Liver
43	chr5:9154400-9155000	Strong transcription	Brain Hippocampus Middle	brain
44	chr5:9154800-9155800	Enhancers	Ovary	ovary
45	chr5:9154800-9156400	Weak transcription	Fetal Stomach	stomach
46	chr5:9154800-9160200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:9154800-9170200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr5:9154800-9173400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:9154800-9176200	Weak transcription	Fetal Intestine Small	intestine
50	chr5:9154800-9176400	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links