Variant report

Variant	nsv527389
Chromosome Location	chr9:13380507-13388038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 313 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs928175	chr9:13380507-13380508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551203875	chr9:13380508-13380509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545176097	chr9:13380540-13380541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113522065	chr9:13380583-13380584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531092376	chr9:13380591-13380592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36112347	chr9:13380618-13380619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142122057	chr9:13380647-13380648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372153667	chr9:13380665-13380666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567842473	chr9:13380669-13380670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146374543	chr9:13380708-13380709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542879700	chr9:13380737-13380738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192207990	chr9:13380740-13380741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536938125	chr9:13380743-13380744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548636918	chr9:13380744-13380745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111835191	chr9:13380762-13380763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566441086	chr9:13380767-13380768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566546692	chr9:13380783-13380784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538655483	chr9:13380819-13380820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558572150	chr9:13380841-13380842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1330126	chr9:13380887-13380888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77596374	chr9:13380962-13380963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554508660	chr9:13380985-13380986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2841175	chr9:13381002-13381003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540006423	chr9:13381004-13381005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544039121	chr9:13381032-13381033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138472376	chr9:13381035-13381036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1928644	chr9:13381068-13381069	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545032647	chr9:13381085-13381086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149652595	chr9:13381126-13381127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10118679	chr9:13381135-13381136	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1360254	chr9:13381187-13381188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144199569	chr9:13381223-13381224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35108503	chr9:13381235-13381236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561378596	chr9:13381238-13381239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530340407	chr9:13381240-13381241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546847020	chr9:13381256-13381257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559900959	chr9:13381261-13381262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532083017	chr9:13381325-13381326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76367577	chr9:13381331-13381332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6474769	chr9:13381346-13381347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7873641	chr9:13381349-13381350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148719070	chr9:13381429-13381430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537402326	chr9:13381436-13381437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552007556	chr9:13381486-13381487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548467685	chr9:13381488-13381489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184532054	chr9:13381498-13381499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186928175	chr9:13381515-13381516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10961034	chr9:13381524-13381525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201121253	chr9:13381550-13381551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112702817	chr9:13381601-13381602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13377600-13383000	Weak transcription	HUVEC	blood vessel
2	chr9:13378600-13386600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:13378800-13383000	Weak transcription	HSMM	muscle
4	chr9:13378800-13383200	Weak transcription	HSMMtube	muscle
5	chr9:13378800-13386400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:13380800-13381200	Enhancers	Pancreas	Pancrea
7	chr9:13381200-13385000	Weak transcription	Pancreas	Pancrea
8	chr9:13383000-13383600	Enhancers	HSMM	muscle
9	chr9:13383000-13384000	Enhancers	HUVEC	blood vessel
10	chr9:13383200-13383600	Enhancers	HSMMtube	muscle
11	chr9:13383600-13386800	Weak transcription	HSMMtube	muscle
12	chr9:13385000-13385200	ZNF genes & repeats	Pancreas	Pancrea
13	chr9:13385000-13385200	ZNF genes & repeats	Right Ventricle	heart
14	chr9:13386400-13388800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:13386400-13389200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:13386600-13387400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:13386600-13388000	Enhancers	Adipose Nuclei	Adipose
18	chr9:13386600-13388200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr9:13386600-13388400	Enhancers	Fetal Muscle Leg	muscle
20	chr9:13386600-13388400	Enhancers	HSMM	muscle
21	chr9:13386600-13388800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:13386600-13389000	Enhancers	Osteobl	bone
23	chr9:13386600-13389200	Enhancers	NHDF-Ad	bronchial
24	chr9:13386800-13387800	Enhancers	Fetal Stomach	stomach
25	chr9:13386800-13388200	Enhancers	HSMMtube	muscle
26	chr9:13387000-13387400	Enhancers	Ovary	ovary
27	chr9:13387000-13388000	Enhancers	NH-A	brain
28	chr9:13387200-13387800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:13387200-13387800	Enhancers	Colon Smooth Muscle	Colon
30	chr9:13387400-13387600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:13387400-13388000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:13387400-13388800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:13387600-13387800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:13387600-13388000	Enhancers	NHLF	lung
35	chr9:13387800-13388000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:13388000-13388800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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