Variant report

Variant	nsv945408
Chromosome Location	chr1:242411302-242417371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 256 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:256 , 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	rs149166807	chr1:242411305-242411306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536827177	chr1:242411306-242411307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553268891	chr1:242411349-242411350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189755295	chr1:242411426-242411427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181404769	chr1:242411471-242411472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115576468	chr1:242411508-242411509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3001661	chr1:242411519-242411520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557334541	chr1:242411538-242411539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577177762	chr1:242411543-242411544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74450980	chr1:242411581-242411582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367834542	chr1:242411589-242411590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370365740	chr1:242411603-242411604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543329875	chr1:242411608-242411609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556811127	chr1:242411654-242411655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372188038	chr1:242411676-242411677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs316900	chr1:242411685-242411686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542844451	chr1:242411686-242411687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61845480	chr1:242411716-242411717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559277015	chr1:242411742-242411743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3001662	chr1:242411744-242411745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528629102	chr1:242411748-242411749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55896046	chr1:242411784-242411785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78029206	chr1:242411793-242411794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199739509	chr1:242411795-242411796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545122934	chr1:242411811-242411812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148355824	chr1:242411815-242411816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530890296	chr1:242411816-242411817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186548474	chr1:242411818-242411819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2917447	chr1:242411836-242411837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567987482	chr1:242411848-242411849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2917446	chr1:242411870-242411871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs56328111	chr1:242411873-242411874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112975289	chr1:242411887-242411888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138595715	chr1:242412052-242412053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12726773	chr1:242412060-242412061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557398235	chr1:242412086-242412087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570933340	chr1:242412092-242412093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs316899	chr1:242412136-242412137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs71498891	chr1:242412173-242412174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556525908	chr1:242412198-242412199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573921430	chr1:242412201-242412202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542552444	chr1:242412204-242412205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139445479	chr1:242412206-242412207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572908668	chr1:242412219-242412220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74508011	chr1:242412255-242412256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76306936	chr1:242412257-242412258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545497682	chr1:242412301-242412302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565348970	chr1:242412306-242412307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575785273	chr1:242412307-242412308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71498890	chr1:242412316-242412317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

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
Cancer	20164919	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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242383400-242420600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:242401200-242420000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242401800-242429400	Weak transcription	Aorta	Aorta
4	chr1:242402000-242417600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:242406600-242411400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:242408200-242425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:242409200-242412800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:242409800-242413600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:242411200-242411400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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