Variant report

Variant	nsv613432
Chromosome Location	chr9:11499438-11586357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1841 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1841 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1596341	chr9:11499438-11499439	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114463597	chr9:11499449-11499450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560867804	chr9:11499470-11499471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191016855	chr9:11499495-11499496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546234719	chr9:11499536-11499537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566120371	chr9:11499570-11499571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6474660	chr9:11499593-11499594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552251853	chr9:11499595-11499596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142900217	chr9:11499601-11499602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73401872	chr9:11499634-11499635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554849351	chr9:11499650-11499651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182336357	chr9:11499666-11499667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186665858	chr9:11499669-11499670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554250342	chr9:11499691-11499692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577320721	chr9:11499754-11499755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545833492	chr9:11499765-11499766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556642153	chr9:11499768-11499769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150959414	chr9:11499784-11499785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560742925	chr9:11499797-11499798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529975378	chr9:11499828-11499829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191860632	chr9:11499840-11499841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140758189	chr9:11499861-11499862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532154816	chr9:11499870-11499871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551852907	chr9:11499881-11499882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532422624	chr9:11499892-11499893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568968239	chr9:11499915-11499916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185007946	chr9:11499937-11499938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187919714	chr9:11499938-11499939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568662606	chr9:11499947-11499948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs193195553	chr9:11500018-11500019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548114841	chr9:11500059-11500060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10959866	chr9:11500062-11500063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372406181	chr9:11500088-11500089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117887481	chr9:11500103-11500104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185160568	chr9:11500107-11500108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144614965	chr9:11500110-11500111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576524128	chr9:11500112-11500113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77906237	chr9:11500119-11500120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555399266	chr9:11500153-11500154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76787807	chr9:11500176-11500177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189341754	chr9:11500181-11500182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181744604	chr9:11500182-11500183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569737136	chr9:11500212-11500213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146673080	chr9:11500243-11500244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535457969	chr9:11500259-11500260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562334584	chr9:11500273-11500274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531479500	chr9:11500298-11500299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35478045	chr9:11500332-11500333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76915062	chr9:11500364-11500365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10959867	chr9:11500424-11500425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11499400-11499800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:11499600-11501400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:11501000-11501600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:11503800-11504200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:11504000-11504800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:11504200-11504600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:11504200-11505000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:11504600-11505800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:11521800-11522200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr9:11534600-11535000	Enhancers	Fetal Brain Male	brain
11	chr9:11535000-11538200	Weak transcription	Fetal Brain Male	brain
12	chr9:11537800-11538800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:11538200-11538600	Enhancers	Fetal Brain Male	brain
14	chr9:11538600-11545600	Weak transcription	Fetal Brain Male	brain
15	chr9:11545600-11547000	Enhancers	Fetal Brain Male	brain
16	chr9:11545800-11546600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr9:11546000-11546800	Enhancers	Fetal Brain Female	brain
18	chr9:11546400-11546800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr9:11546600-11547600	Enhancers	Brain Germinal Matrix	brain
20	chr9:11549200-11550800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:11549200-11554400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:11553200-11553600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:11553200-11553600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:11553400-11553800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:11558200-11559000	Enhancers	Fetal Brain Male	brain
26	chr9:11559000-11560000	Weak transcription	Fetal Brain Male	brain
27	chr9:11560000-11560200	Enhancers	Fetal Brain Male	brain
28	chr9:11561800-11562800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:11567000-11567400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:11569600-11570600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr9:11570600-11577400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr9:11577400-11577600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr9:11577600-11578000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr9:11578000-11578800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr9:11578800-11579400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr9:11579400-11580000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr9:11580000-11580200	Enhancers	Pancreatic Islets	Pancreatic Islet

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