Variant report

Variant	nsv892223
Chromosome Location	chr9:8258921-8318948
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-141-3p	chr9:8314250-8314271
2	PTPRD	hsa-miR-200a-3p	chr9:8316890-8316913
3	PTPRD	hsa-miR-200a-3p	chr9:8314256-8314249
4	PTPRD	hsa-miR-141-3p	chr9:8314256-8314249
5	PTPRD	hsa-miR-200a-3p	chr9:8314250-8314271
6	PTPRD	hsa-miR-1	chr9:8315182-8315176

Extended variants
information (count: 2612 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:2612 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7048696	chr9:8258921-8258922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs77073806	chr9:8258922-8258923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529966293	chr9:8258924-8258925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562804718	chr9:8258964-8258965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184499815	chr9:8258974-8258975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146981993	chr9:8258987-8258988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569208013	chr9:8259041-8259042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536267657	chr9:8259047-8259048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554828021	chr9:8259057-8259058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556820221	chr9:8259059-8259060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7035222	chr9:8259072-8259073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558684147	chr9:8259114-8259115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375525668	chr9:8259150-8259151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577367284	chr9:8259191-8259192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7024478	chr9:8259192-8259193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534717825	chr9:8259201-8259202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140872369	chr9:8259204-8259205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187780066	chr9:8259206-8259207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150160064	chr9:8259220-8259221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527627999	chr9:8259228-8259229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546131222	chr9:8259232-8259233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564229094	chr9:8259255-8259256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531430271	chr9:8259287-8259288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34236288	chr9:8259339-8259340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs111803088	chr9:8259365-8259366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530084177	chr9:8259366-8259367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138151294	chr9:8259367-8259368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191317255	chr9:8259369-8259370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7024730	chr9:8259370-8259371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537605413	chr9:8259397-8259398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117148043	chr9:8259432-8259433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184976608	chr9:8259440-8259441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556200145	chr9:8259459-8259460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574492186	chr9:8259461-8259462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79524012	chr9:8259467-8259468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574364259	chr9:8259474-8259475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553764622	chr9:8259485-8259486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149125383	chr9:8259499-8259500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546093055	chr9:8259500-8259501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145079287	chr9:8259514-8259515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189310849	chr9:8259517-8259518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543282264	chr9:8259562-8259563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538829211	chr9:8259593-8259594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562997170	chr9:8259601-8259602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138859957	chr9:8259607-8259608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548279363	chr9:8259608-8259609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111306953	chr9:8259634-8259635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560087169	chr9:8259657-8259658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527693380	chr9:8259670-8259671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552435437	chr9:8259671-8259672	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:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8251800-8263000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:8255000-8267800	Weak transcription	Pancreas	Pancrea
3	chr9:8257000-8259000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:8258400-8261000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:8258600-8262600	Weak transcription	Fetal Heart	heart
6	chr9:8259000-8259200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:8259000-8259400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:8259200-8263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:8259400-8261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:8260200-8261600	Weak transcription	Ovary	ovary
11	chr9:8260600-8261800	Enhancers	Fetal Intestine Small	intestine
12	chr9:8260600-8266000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:8260800-8261200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr9:8261000-8262200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:8261400-8261600	Weak transcription	Fetal Stomach	stomach
16	chr9:8261400-8261800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr9:8261400-8262000	Enhancers	Primary B cells from peripheral blood	blood
18	chr9:8261400-8262000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr9:8261400-8262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:8261400-8263400	Enhancers	Fetal Thymus	thymus
21	chr9:8261400-8263400	Enhancers	Thymus	Thymus
22	chr9:8261600-8261800	Enhancers	Fetal Stomach	stomach
23	chr9:8261600-8261800	Enhancers	Dnd41	blood
24	chr9:8261600-8262000	Enhancers	Fetal Lung	lung
25	chr9:8261600-8262200	Enhancers	Primary B cells from cord blood	blood
26	chr9:8261600-8263200	Enhancers	Ovary	ovary
27	chr9:8261600-8263600	Enhancers	Colon Smooth Muscle	Colon
28	chr9:8261800-8262000	Enhancers	Placenta	Placenta
29	chr9:8261800-8262400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:8261800-8262800	Weak transcription	Fetal Intestine Small	intestine
31	chr9:8261800-8262800	Weak transcription	Fetal Stomach	stomach
32	chr9:8261800-8263000	Weak transcription	Dnd41	blood
33	chr9:8262000-8262400	Weak transcription	Fetal Lung	lung
34	chr9:8262000-8263000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr9:8262000-8263400	Enhancers	Psoas Muscle	Psoas
36	chr9:8262200-8262400	Enhancers	Placenta	Placenta
37	chr9:8262200-8262400	Enhancers	Lung	lung
38	chr9:8262200-8262600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:8262400-8262800	Enhancers	Fetal Lung	lung
40	chr9:8262400-8263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:8262600-8263400	Enhancers	Fetal Muscle Leg	muscle
42	chr9:8262600-8263600	Enhancers	Fetal Heart	heart
43	chr9:8262600-8263800	Enhancers	Stomach Smooth Muscle	stomach
44	chr9:8262600-8265800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:8262800-8263200	Enhancers	Adipose Nuclei	Adipose
46	chr9:8262800-8263200	Flanking Active TSS	Fetal Lung	lung
47	chr9:8262800-8263200	Enhancers	Rectal Smooth Muscle	rectum
48	chr9:8262800-8263400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:8262800-8263400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:8262800-8263400	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links