Variant report

Variant	nsv525999
Chromosome Location	chr1:242762965-242768780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 226 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6429364	chr1:242762965-242762966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550767823	chr1:242762984-242762985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543717946	chr1:242762987-242762988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77465181	chr1:242763015-242763016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186202894	chr1:242763046-242763047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191056927	chr1:242763109-242763110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73138238	chr1:242763111-242763112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565737676	chr1:242763145-242763146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4658834	chr1:242763192-242763193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs180854776	chr1:242763227-242763228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571823919	chr1:242763238-242763239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114380316	chr1:242763245-242763246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557209718	chr1:242763258-242763259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147465673	chr1:242763313-242763314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536235384	chr1:242763348-242763349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11576890	chr1:242763351-242763352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573209330	chr1:242763366-242763367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376316065	chr1:242763414-242763415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185908975	chr1:242763434-242763435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557635205	chr1:242763451-242763452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557400666	chr1:242763459-242763460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577755305	chr1:242763510-242763511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373462331	chr1:242763538-242763539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568991416	chr1:242763564-242763565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111640445	chr1:242763585-242763586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563575109	chr1:242763616-242763617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147154475	chr1:242763633-242763634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574026821	chr1:242763639-242763640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542595947	chr1:242763700-242763701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559409640	chr1:242763819-242763820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112137016	chr1:242763836-242763837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528139262	chr1:242763862-242763863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190830532	chr1:242763872-242763873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183150556	chr1:242763892-242763893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138130280	chr1:242763934-242763935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74150765	chr1:242763949-242763950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567578405	chr1:242763950-242763951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376200473	chr1:242764009-242764010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574224181	chr1:242764011-242764012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562164314	chr1:242764019-242764020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369736515	chr1:242764024-242764025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536551906	chr1:242764084-242764085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188083741	chr1:242764120-242764121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60703272	chr1:242764123-242764124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6429365	chr1:242764180-242764181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547889463	chr1:242764229-242764230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149554411	chr1:242764236-242764237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575698786	chr1:242764279-242764280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116389527	chr1:242764281-242764282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190567851	chr1:242764304-242764305	Weak transcription	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242761800-242766400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:242765200-242765400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:242765200-242765400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:242765200-242765400	Enhancers	HMEC	breast
5	chr1:242765400-242766400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:242765400-242766400	Weak transcription	HMEC	breast
7	chr1:242765600-242765800	Enhancers	HSMMtube	muscle
8	chr1:242765600-242767200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:242766400-242766600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:242766400-242767200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:242766400-242770000	Enhancers	HMEC	breast
12	chr1:242766400-242770400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:242766600-242767000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:242766600-242767200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:242766600-242767200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:242766600-242767200	Enhancers	A549	lung
17	chr1:242766600-242767600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:242766800-242767400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:242767200-242767400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:242767200-242768000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:242767400-242768200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:242767600-242768000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:242768200-242768800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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