Variant report

Variant	esv1843903
Chromosome Location	chr1:242965734-242987501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545686876	chr1:242974008-242974009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572487610	chr1:242974023-242974024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541208226	chr1:242974083-242974084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2780802	chr1:242974235-242974236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs59578046	chr1:242974296-242974297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187514050	chr1:242974345-242974346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2780801	chr1:242974392-242974393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2780800	chr1:242974401-242974402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548144290	chr1:242974461-242974462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192929139	chr1:242974498-242974499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183981123	chr1:242974499-242974500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188661446	chr1:242974502-242974503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570565034	chr1:242974510-242974511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12131075	chr1:242974542-242974543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147032426	chr1:242974544-242974545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12123385	chr1:242974623-242974624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184461207	chr1:242974626-242974627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548829614	chr1:242974630-242974631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535807920	chr1:242974651-242974652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2780799	chr1:242974655-242974656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575328329	chr1:242974704-242974705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541421397	chr1:242974731-242974732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564202458	chr1:242974735-242974736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577733453	chr1:242974739-242974740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190738394	chr1:242974742-242974743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12131878	chr1:242974744-242974745	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147966208	chr1:242974773-242974774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111912887	chr1:242974774-242974775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540573385	chr1:242974775-242974776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374562048	chr1:242974790-242974791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60178985	chr1:242974793-242974794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531486252	chr1:242974814-242974815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369871906	chr1:242974870-242974871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548226053	chr1:242974881-242974882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2502326	chr1:242974898-242974899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181981496	chr1:242974908-242974909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2780798	chr1:242975005-242975006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2780797	chr1:242975036-242975037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186153970	chr1:242975059-242975060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550383137	chr1:242975098-242975099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2809880	chr1:242975099-242975100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536142841	chr1:242975156-242975157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549542940	chr1:242976401-242976402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2780792	chr1:242976421-242976422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573982954	chr1:242976425-242976426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555264148	chr1:242976518-242976519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370251451	chr1:242976529-242976530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2809882	chr1:242976557-242976558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534814673	chr1:242976599-242976600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553413242	chr1:242976602-242976603	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	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
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
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	chr1:242974000-242975000	Enhancers	HMEC	breast
2	chr1:242974600-242975200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:242976400-242976600	Enhancers	GM12878-XiMat	blood
4	chr1:242976400-242977000	Enhancers	Primary B cells from cord blood	blood
5	chr1:242976400-242977200	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:242976600-242977200	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:242977200-242977400	Enhancers	GM12878-XiMat	blood
8	chr1:242987200-242988800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:242987200-242991000	Enhancers	HMEC	breast
10	chr1:242987400-242988600	Enhancers	A549	lung
11	chr1:242987400-242988800	Enhancers	Muscle Satellite Cultured Cells	--

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