Variant report

Variant	nsv945324
Chromosome Location	chr1:224762412-224763649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529062922	chr1:224762420-224762421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574434229	chr1:224762436-224762437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192146842	chr1:224762447-224762448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563157089	chr1:224762459-224762460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182778445	chr1:224762484-224762485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187859463	chr1:224762506-224762507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74322758	chr1:224762536-224762537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527766642	chr1:224762540-224762541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116449248	chr1:224762569-224762570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192429332	chr1:224762588-224762589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545415472	chr1:224762608-224762609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115252148	chr1:224762702-224762703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183759706	chr1:224762708-224762709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531313114	chr1:224762740-224762741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569103144	chr1:224762754-224762755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539271967	chr1:224762772-224762773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557967721	chr1:224762784-224762785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566599137	chr1:224762785-224762786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551122529	chr1:224762798-224762799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533868724	chr1:224762843-224762844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555444961	chr1:224762849-224762850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56403019	chr1:224762915-224762916	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544148588	chr1:224762932-224762933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556602809	chr1:224762940-224762941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578173619	chr1:224762941-224762942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545308941	chr1:224762949-224762950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560293680	chr1:224762957-224762958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527819809	chr1:224762975-224762976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542721088	chr1:224762987-224762988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560997366	chr1:224762992-224762993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376270048	chr1:224762993-224762994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531627983	chr1:224763079-224763080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550113631	chr1:224763107-224763108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143231904	chr1:224763130-224763131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57325458	chr1:224763145-224763146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77483507	chr1:224763155-224763156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61825845	chr1:224763157-224763158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533231663	chr1:224763220-224763221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551647122	chr1:224763223-224763224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189443690	chr1:224763256-224763257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192146176	chr1:224763310-224763311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549103134	chr1:224763389-224763390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78995811	chr1:224763404-224763405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537461272	chr1:224763407-224763408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556112008	chr1:224763409-224763410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75954092	chr1:224763453-224763454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575446813	chr1:224763455-224763456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578209423	chr1:224763465-224763466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1499293	chr1:224763475-224763476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554002109	chr1:224763500-224763501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224753600-224780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224754000-224767000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224754000-224767200	Weak transcription	NHDF-Ad	bronchial
4	chr1:224759800-224766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:224759800-224767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:224762000-224763000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:224762200-224762800	Strong transcription	Ovary	ovary
8	chr1:224762800-224766200	Weak transcription	Ovary	ovary
9	chr1:224763000-224764200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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