Variant report

Variant	nsv519452
Chromosome Location	chr1:242767678-242774364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 262 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7523607	chr1:242767678-242767679	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527585111	chr1:242767696-242767697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547049422	chr1:242767702-242767703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4658835	chr1:242767756-242767757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532991016	chr1:242767765-242767766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549880087	chr1:242767775-242767776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569815008	chr1:242767814-242767815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7534015	chr1:242767842-242767843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187657534	chr1:242767893-242767894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76673632	chr1:242767897-242767898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142030836	chr1:242767903-242767904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553162761	chr1:242767913-242767914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117045015	chr1:242767915-242767916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146374949	chr1:242767939-242767940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4658489	chr1:242767951-242767952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557023715	chr1:242767965-242767966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573803901	chr1:242768004-242768005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575552110	chr1:242768028-242768029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202140580	chr1:242768044-242768045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7523904	chr1:242768046-242768047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77120437	chr1:242768089-242768090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541302369	chr1:242768104-242768105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191516366	chr1:242768124-242768125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34660512	chr1:242768229-242768230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549843267	chr1:242768296-242768297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142928201	chr1:242768300-242768301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529003765	chr1:242768327-242768328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549285884	chr1:242768345-242768346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369938319	chr1:242768354-242768355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184162284	chr1:242768362-242768363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6682980	chr1:242768363-242768364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534943016	chr1:242768464-242768465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188661761	chr1:242768483-242768484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116289037	chr1:242768551-242768552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117001414	chr1:242768557-242768558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192744695	chr1:242768558-242768559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114256042	chr1:242768585-242768586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539411371	chr1:242768597-242768598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553225760	chr1:242768626-242768627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182381464	chr1:242768636-242768637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1892481	chr1:242768651-242768652	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144399641	chr1:242768667-242768668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578007189	chr1:242768668-242768669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372964737	chr1:242768717-242768718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2343126	chr1:242768780-242768781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563296693	chr1:242768795-242768796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12097675	chr1:242768898-242768899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74737494	chr1:242768939-242768940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571960307	chr1:242768972-242768973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148787012	chr1:242769001-242769002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242766400-242770000	Enhancers	HMEC	breast
2	chr1:242766400-242770400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:242767200-242768000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:242767400-242768200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:242767600-242768000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:242768200-242768800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:242768800-242771600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:242770000-242770800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:242770400-242775800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:242771600-242771800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:242771800-242772000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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