Variant report

Variant	nsv973428
Chromosome Location	chr9:11128526-11140177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 405 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531163712	chr9:11128579-11128580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551213900	chr9:11128593-11128594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567930461	chr9:11128603-11128604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116396885	chr9:11128605-11128606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118165731	chr9:11128620-11128621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566792619	chr9:11128641-11128642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548461276	chr9:11128649-11128650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189668860	chr9:11128671-11128672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558809110	chr9:11128673-11128674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113773564	chr9:11128674-11128675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371842929	chr9:11128701-11128702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538431507	chr9:11128702-11128703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139922942	chr9:11128712-11128713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113517365	chr9:11128717-11128718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145415090	chr9:11128722-11128723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75464652	chr9:11128725-11128726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148789287	chr9:11128737-11128738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545072647	chr9:11128740-11128741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10959552	chr9:11130009-11130010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs187760416	chr9:11130013-11130014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138379627	chr9:11130033-11130034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12000177	chr9:11130035-11130036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116372293	chr9:11130036-11130037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12004062	chr9:11130067-11130068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541777287	chr9:11130071-11130072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565249242	chr9:11130181-11130182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567835914	chr9:11130192-11130193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532496047	chr9:11130207-11130208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561755296	chr9:11130238-11130239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61218912	chr9:11130255-11130256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72694255	chr9:11130263-11130264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115439834	chr9:11130266-11130267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143856186	chr9:11130282-11130283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192713247	chr9:11130292-11130293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569143777	chr9:11130318-11130319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199845889	chr9:11130319-11130320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113637424	chr9:11130369-11130370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371139387	chr9:11130384-11130385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35038040	chr9:11130395-11130396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2151715	chr9:11130398-11130399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537056059	chr9:11130404-11130405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553866383	chr9:11130412-11130413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368386076	chr9:11130415-11130416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576883716	chr9:11130498-11130499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539619326	chr9:11130517-11130518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556344395	chr9:11130521-11130522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576290237	chr9:11130553-11130554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542155178	chr9:11130563-11130564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561930344	chr9:11130578-11130579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201370558	chr9:11130655-11130656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Cancer	20164920	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11127800-11128800	Enhancers	NHEK	skin
2	chr9:11128400-11128600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:11130000-11130200	Enhancers	Fetal Lung	lung
4	chr9:11130200-11130800	Weak transcription	Fetal Lung	lung
5	chr9:11130800-11132000	Enhancers	Fetal Lung	lung
6	chr9:11132000-11136000	Weak transcription	Fetal Lung	lung
7	chr9:11135800-11136200	Enhancers	Fetal Heart	heart
8	chr9:11136000-11136400	Enhancers	Fetal Lung	lung
9	chr9:11136000-11136400	Enhancers	Ovary	ovary
10	chr9:11136000-11136400	Enhancers	Pancreas	Pancrea
11	chr9:11136000-11137000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:11140000-11141000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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