Variant report

Variant	esv3360123
Chromosome Location	chr5:9188434-9188889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCT5-25	chr5:9188660-9188992	NONHSAT100335

Extended variants
information (count: 22 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528590157	chr5:9188471-9188472	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376935323	chr5:9188473-9188474	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113681686	chr5:9188577-9188578	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35561658	chr5:9188585-9188586	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116483642	chr5:9188593-9188594	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187855531	chr5:9188607-9188608	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71611364	chr5:9188614-9188615	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12515855	chr5:9188641-9188642	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140378323	chr5:9188676-9188677	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs566280466	chr5:9188691-9188692	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs192491417	chr5:9188728-9188729	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555131421	chr5:9188730-9188731	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs183899257	chr5:9188731-9188732	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs537406606	chr5:9188767-9188768	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs532332525	chr5:9188784-9188785	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs143551427	chr5:9188833-9188834	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs148023096	chr5:9188839-9188840	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs369698040	chr5:9188881-9188882	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs149644849	chr5:9188883-9188884	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs72416909	chr5:9188884-9188885	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs60059279	chr5:9188887-9188888	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs200160152	chr5:9188888-9188889	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9136800-9189000	Weak transcription	Pancreas	Pancrea
2	chr5:9145600-9235400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:9154000-9226200	Weak transcription	Fetal Intestine Large	intestine
4	chr5:9163800-9189200	Weak transcription	Fetal Heart	heart
5	chr5:9169800-9202800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:9171000-9192000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:9174800-9188600	Weak transcription	Right Ventricle	heart
8	chr5:9175400-9208400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:9175600-9227400	Weak transcription	Colonic Mucosa	Colon
10	chr5:9176400-9196400	Weak transcription	Ovary	ovary
11	chr5:9177400-9189200	Weak transcription	Aorta	Aorta
12	chr5:9177800-9189000	Weak transcription	Liver	Liver
13	chr5:9178000-9189800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:9178200-9188600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:9183400-9191400	Weak transcription	Brain Angular Gyrus	brain
16	chr5:9183800-9188600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:9183800-9188600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:9183800-9189000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:9183800-9189000	Weak transcription	Fetal Intestine Small	intestine
20	chr5:9183800-9189000	Weak transcription	Fetal Stomach	stomach
21	chr5:9183800-9190200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:9183800-9190400	Weak transcription	Esophagus	oesophagus
23	chr5:9184000-9188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:9184000-9188600	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:9184000-9189000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:9184000-9191400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:9184600-9194800	Weak transcription	Fetal Kidney	kidney
28	chr5:9185000-9194600	Weak transcription	Fetal Lung	lung
29	chr5:9185200-9188600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:9185200-9189000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:9185200-9191600	Weak transcription	Gastric	stomach
32	chr5:9185400-9264600	Weak transcription	Left Ventricle	heart
33	chr5:9187600-9188600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:9187600-9189200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:9187600-9189400	Enhancers	NHDF-Ad	bronchial
36	chr5:9187800-9188600	Enhancers	NHLF	lung
37	chr5:9187800-9188800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:9187800-9188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:9187800-9189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:9187800-9189200	Enhancers	NH-A	brain
41	chr5:9187800-9189400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:9187800-9189400	Enhancers	Dnd41	blood
43	chr5:9188000-9188800	Enhancers	HMEC	breast
44	chr5:9188000-9189400	Enhancers	Osteobl	bone
45	chr5:9188000-9191000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:9188000-9192400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:9188000-9194600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:9188200-9188600	Enhancers	NHEK	skin
49	chr5:9188200-9189200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:9188200-9190800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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