Variant report

Variant	nsv892224
Chromosome Location	chr9:8263737-8338431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location
1	PTPRD	hsa-miR-200a-3p	chr9:8314250-8314271
2	PTPRD	hsa-miR-1	chr9:8315182-8315176
3	PTPRD	hsa-miR-200a-3p	chr9:8316890-8316913
4	PTPRD	hsa-miR-200a-3p	chr9:8314256-8314249
5	PTPRD	hsa-miR-141-3p	chr9:8314250-8314271
6	PTPRD	hsa-miR-141-3p	chr9:8314256-8314249

Extended variants
information (count: 3740 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:3740 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10815812	chr9:8263737-8263738	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139593504	chr9:8263739-8263740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574550184	chr9:8263793-8263794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185721817	chr9:8263794-8263795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190202845	chr9:8263797-8263798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527700516	chr9:8263799-8263800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546163076	chr9:8263804-8263805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376175952	chr9:8263821-8263822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564828710	chr9:8263872-8263873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531937986	chr9:8263887-8263888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182413726	chr9:8263888-8263889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61367847	chr9:8263919-8263920	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546293374	chr9:8263939-8263940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57836230	chr9:8263959-8263960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186687425	chr9:8263965-8263966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528951163	chr9:8263979-8263980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149715985	chr9:8263987-8263988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565509168	chr9:8264009-8264010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539457300	chr9:8264011-8264012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557748283	chr9:8264021-8264022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569981835	chr9:8264027-8264028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536955271	chr9:8264038-8264039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10815813	chr9:8264148-8264149	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573518954	chr9:8264152-8264153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191304264	chr9:8264175-8264176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533695947	chr9:8264188-8264189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10815814	chr9:8264200-8264201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184109898	chr9:8264218-8264219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10976892	chr9:8264250-8264251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs79159056	chr9:8264291-8264292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10976893	chr9:8264347-8264348	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556465332	chr9:8264358-8264359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561074357	chr9:8264367-8264368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140382636	chr9:8264471-8264472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566491417	chr9:8264507-8264508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144134706	chr9:8264508-8264509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10976894	chr9:8264515-8264516	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530153985	chr9:8264524-8264525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117784395	chr9:8264542-8264543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376764245	chr9:8264558-8264559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543476824	chr9:8264605-8264606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188612384	chr9:8264606-8264607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10976895	chr9:8264661-8264662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10976896	chr9:8264662-8264663	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569311579	chr9:8264687-8264688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540327439	chr9:8264696-8264697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146791161	chr9:8264716-8264717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193156763	chr9:8264742-8264743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567108270	chr9:8264763-8264764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116537007	chr9:8264779-8264780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8255000-8267800	Weak transcription	Pancreas	Pancrea
2	chr9:8260600-8266000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:8262600-8263800	Enhancers	Stomach Smooth Muscle	stomach
4	chr9:8262600-8265800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:8262800-8264400	Enhancers	Fetal Intestine Small	intestine
6	chr9:8263000-8263800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:8263000-8263800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:8263200-8263800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:8263200-8265000	Enhancers	Fetal Lung	lung
10	chr9:8263200-8265400	Weak transcription	Ovary	ovary
11	chr9:8263400-8267000	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:8263400-8267800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:8263400-8267800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:8263400-8267800	Weak transcription	Psoas Muscle	Psoas
15	chr9:8263600-8266400	Weak transcription	Fetal Heart	heart
16	chr9:8263600-8267200	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:8263600-8267600	Weak transcription	Fetal Stomach	stomach
18	chr9:8263600-8268800	Weak transcription	Stomach Mucosa	stomach
19	chr9:8263800-8267800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:8264400-8274800	Weak transcription	Fetal Intestine Small	intestine
21	chr9:8265000-8265400	Flanking Active TSS	Fetal Lung	lung
22	chr9:8265200-8265400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:8265200-8265800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:8265400-8265600	Enhancers	Ovary	ovary
25	chr9:8265400-8270600	Enhancers	Fetal Lung	lung
26	chr9:8265600-8266000	Weak transcription	Ovary	ovary
27	chr9:8266000-8269000	Enhancers	Ovary	ovary
28	chr9:8266200-8266400	Enhancers	Small Intestine	intestine
29	chr9:8266400-8267000	Enhancers	Fetal Heart	heart
30	chr9:8266600-8266800	Enhancers	Aorta	Aorta
31	chr9:8266800-8268800	Weak transcription	Aorta	Aorta
32	chr9:8267000-8267200	Enhancers	Fetal Muscle Leg	muscle
33	chr9:8267200-8267600	Weak transcription	Fetal Muscle Leg	muscle
34	chr9:8267200-8268600	Enhancers	Colon Smooth Muscle	Colon
35	chr9:8267600-8268600	Enhancers	Fetal Stomach	stomach
36	chr9:8267600-8268800	Enhancers	Fetal Muscle Leg	muscle
37	chr9:8267600-8269800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:8267800-8268600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:8267800-8269200	Enhancers	Pancreas	Pancrea
40	chr9:8267800-8269200	Enhancers	Stomach Smooth Muscle	stomach
41	chr9:8267800-8269800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:8267800-8269800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:8267800-8269800	Enhancers	Psoas Muscle	Psoas
44	chr9:8268400-8269200	Bivalent Enhancer	Small Intestine	intestine
45	chr9:8268800-8269000	Enhancers	Aorta	Aorta
46	chr9:8268800-8271000	Enhancers	Stomach Mucosa	stomach
47	chr9:8269400-8271000	Enhancers	HepG2	liver
48	chr9:8269600-8270000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr9:8271000-8275000	Weak transcription	Stomach Mucosa	stomach
50	chr9:8274600-8276000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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