Variant report

Variant	esv2762230
Chromosome Location	chr1:241631807-241634520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:241632760..241634431-chr1:241635696..241638557,2	K562	blood:
2	chr1:241632007..241634325-chr1:241638629..241641095,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58124241	chr1:241633236-241633237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565090729	chr1:241633293-241633294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377019728	chr1:241633327-241633328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2994978	chr1:241633413-241633414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs544549722	chr1:241633459-241633460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575949070	chr1:241633551-241633552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543302460	chr1:241633565-241633566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538856655	chr1:241633660-241633661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528914976	chr1:241633715-241633716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2994979	chr1:241633731-241633732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs565824357	chr1:241633741-241633742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554010407	chr1:241633809-241633810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117545913	chr1:241633849-241633850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114440446	chr1:241633908-241633909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572429011	chr1:241633937-241633938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557004928	chr1:241633974-241633975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186669533	chr1:241633977-241633978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564927491	chr1:241634015-241634016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536289390	chr1:241634020-241634021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144181593	chr1:241634058-241634059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191724687	chr1:241634072-241634073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545059259	chr1:241634085-241634086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183088848	chr1:241634109-241634110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140585728	chr1:241634145-241634146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114299839	chr1:241634165-241634166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186313043	chr1:241634213-241634214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530415521	chr1:241634227-241634228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191056618	chr1:241634245-241634246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559348642	chr1:241634261-241634262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116163073	chr1:241634269-241634270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2994980	chr1:241634281-241634282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145366265	chr1:241634299-241634300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530654012	chr1:241634300-241634301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116747409	chr1:241634301-241634302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567497463	chr1:241634308-241634309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377640004	chr1:241634343-241634344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530689215	chr1:241634354-241634355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59580206	chr1:241634361-241634362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372810271	chr1:241634364-241634365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546598796	chr1:241634381-241634382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566495422	chr1:241634382-241634383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538626076	chr1:241634402-241634403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529850907	chr1:241634415-241634416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182292339	chr1:241634426-241634427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575682852	chr1:241634450-241634451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188034567	chr1:241634492-241634493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548036404	chr1:241634498-241634499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6696900	chr1:241634520-241634521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
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
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 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
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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	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
Schizophrenia	17989066	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241633200-241634400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:241633400-241634400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr1:241633400-241635000	Enhancers	Brain Germinal Matrix	brain
4	chr1:241633800-241634400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr1:241633800-241634800	Enhancers	NHLF	lung
6	chr1:241634200-241634400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:241634200-241634400	Enhancers	NHDF-Ad	bronchial
8	chr1:241634200-241635000	Enhancers	Fetal Brain Male	brain
9	chr1:241634400-241638600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:241634400-241639200	Weak transcription	Brain Inferior Temporal Lobe	brain

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