Variant report

Variant	esv3337718
Chromosome Location	chr9:8301001-8318939
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	chr9:8314256-8314249
2	PTPRD	hsa-miR-200a-3p	chr9:8314250-8314271
3	PTPRD	hsa-miR-141-3p	chr9:8314250-8314271
4	PTPRD	hsa-miR-200a-3p	chr9:8314256-8314249
5	PTPRD	hsa-miR-1	chr9:8315182-8315176
6	PTPRD	hsa-miR-200a-3p	chr9:8316890-8316913

Extended variants
information (count: 577 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145945499	chr9:8301204-8301205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538383055	chr9:8301205-8301206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556385098	chr9:8301248-8301249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568403912	chr9:8301265-8301266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10976928	chr9:8301307-8301308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554419754	chr9:8301341-8301342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541634016	chr9:8301412-8301413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572435435	chr9:8301414-8301415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558551658	chr9:8301435-8301436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545975658	chr9:8301440-8301441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201444950	chr9:8301463-8301464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1500311	chr9:8301495-8301496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561643058	chr9:8301520-8301521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573550910	chr9:8301560-8301561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10976929	chr9:8301561-8301562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559668343	chr9:8301564-8301565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75437817	chr9:8301574-8301575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369680351	chr9:8304402-8304403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563265620	chr9:8304407-8304408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566940025	chr9:8304412-8304413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558988742	chr9:8304417-8304418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12338879	chr9:8304425-8304426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184796765	chr9:8304427-8304428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544930518	chr9:8304496-8304497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138390387	chr9:8304500-8304501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575005372	chr9:8304501-8304502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532122916	chr9:8304507-8304508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575696627	chr9:8304522-8304523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553121957	chr9:8304530-8304531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4742481	chr9:8304560-8304561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527345108	chr9:8304565-8304566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545397306	chr9:8304586-8304587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564154458	chr9:8304589-8304590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151248304	chr9:8309217-8309218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143204602	chr9:8309253-8309254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60915003	chr9:8309254-8309255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397940182	chr9:8309256-8309257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557847993	chr9:8309282-8309283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56964282	chr9:8309297-8309298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140465525	chr9:8309315-8309316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545783920	chr9:8309328-8309329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557511409	chr9:8309332-8309333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145731681	chr9:8309342-8309343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372383518	chr9:8309345-8309346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61523941	chr9:8309392-8309393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146571360	chr9:8309399-8309400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369843741	chr9:8309421-8309422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3843579	chr9:8309450-8309451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs35189506	chr9:8309479-8309480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578146608	chr9:8309485-8309486	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8301200-8301600	Enhancers	HUVEC	blood vessel
2	chr9:8301400-8301600	Enhancers	Fetal Lung	lung
3	chr9:8304400-8304600	Enhancers	Pancreas	Pancrea
4	chr9:8309200-8315600	Weak transcription	Fetal Kidney	kidney
5	chr9:8310200-8310800	ZNF genes & repeats	Fetal Brain Male	brain
6	chr9:8310400-8310800	ZNF genes & repeats	Fetal Brain Female	brain
7	chr9:8310600-8310800	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr9:8310600-8310800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
9	chr9:8310600-8311000	ZNF genes & repeats	Fetal Lung	lung
10	chr9:8310800-8313000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:8310800-8318600	Weak transcription	Fetal Brain Male	brain
12	chr9:8310800-8321800	Weak transcription	Fetal Brain Female	brain
13	chr9:8310800-8323000	Weak transcription	Brain Germinal Matrix	brain
14	chr9:8311000-8312800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:8311000-8313200	Weak transcription	Fetal Lung	lung
16	chr9:8311000-8319600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:8311200-8315200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:8311200-8318600	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:8311200-8322600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:8312200-8322600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:8312200-8338200	Weak transcription	Brain Angular Gyrus	brain
22	chr9:8312800-8314600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:8312800-8322000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:8313000-8313200	ZNF genes & repeats	Aorta	Aorta
25	chr9:8313000-8313800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr9:8313200-8314400	Strong transcription	Fetal Lung	lung
27	chr9:8313600-8314600	Weak transcription	Brain Substantia Nigra	brain
28	chr9:8313800-8329400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:8314400-8314600	Enhancers	Brain Anterior Caudate	brain
30	chr9:8314400-8319800	Weak transcription	Fetal Lung	lung
31	chr9:8314600-8314800	Enhancers	Brain Substantia Nigra	brain
32	chr9:8314600-8315200	Weak transcription	Brain Anterior Caudate	brain
33	chr9:8314600-8321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:8314800-8318600	Weak transcription	Brain Substantia Nigra	brain
35	chr9:8315200-8315400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:8315200-8315400	Enhancers	Brain Anterior Caudate	brain
37	chr9:8315200-8315800	Enhancers	Brain Cingulate Gyrus	brain
38	chr9:8315400-8323000	Weak transcription	Brain Anterior Caudate	brain
39	chr9:8315800-8316200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr9:8316000-8317400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr9:8316000-8329600	Weak transcription	Ovary	ovary
42	chr9:8316200-8316400	Enhancers	Brain Cingulate Gyrus	brain
43	chr9:8316400-8318600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr9:8317400-8318200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr9:8318200-8329000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr9:8318600-8319000	Enhancers	Brain Hippocampus Middle	brain
47	chr9:8318600-8319000	Enhancers	Fetal Brain Male	brain
48	chr9:8318600-8319200	Enhancers	Brain Cingulate Gyrus	brain
49	chr9:8318600-8319200	Enhancers	Brain Substantia Nigra	brain

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