Variant report

Variant	esv3418013
Chromosome Location	chr1:242819430-242823231
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	chr1:242817323..242819787-chr1:242897350..242900264,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367643508	chr1:242820815-242820816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372343044	chr1:242820816-242820817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10159343	chr1:242820837-242820838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575947044	chr1:242820845-242820846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552896247	chr1:242820905-242820906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577492409	chr1:242820925-242820926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10926816	chr1:242820929-242820930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs187579874	chr1:242820949-242820950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376348328	chr1:242821219-242821220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116083151	chr1:242821220-242821221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530009069	chr1:242821223-242821224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146458172	chr1:242821233-242821234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139319941	chr1:242821254-242821255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571743865	chr1:242821308-242821309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566517811	chr1:242821310-242821311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538725700	chr1:242821426-242821427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558716164	chr1:242821438-242821439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6658781	chr1:242821470-242821471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538022320	chr1:242821499-242821500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543848728	chr1:242821511-242821512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555156274	chr1:242821516-242821517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557369893	chr1:242821517-242821518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74790054	chr1:242821527-242821528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116136900	chr1:242821607-242821608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142530256	chr1:242821631-242821632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189029627	chr1:242821646-242821647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542866607	chr1:242821685-242821686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114415625	chr1:242821719-242821720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562149177	chr1:242821721-242821722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191956137	chr1:242821779-242821780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544034560	chr1:242821789-242821790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72768527	chr1:242821799-242821800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529939818	chr1:242821874-242821875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546100909	chr1:242821908-242821909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566456700	chr1:242821927-242821928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200951244	chr1:242821966-242821967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532120493	chr1:242821984-242821985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34870639	chr1:242821993-242821994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116651384	chr1:242822017-242822018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373046607	chr1:242822080-242822081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537950118	chr1:242822092-242822093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35136033	chr1:242822130-242822131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34491319	chr1:242822131-242822132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113277757	chr1:242822150-242822151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554863443	chr1:242822154-242822155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568678195	chr1:242822159-242822160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534707952	chr1:242822197-242822198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201584258	chr1:242822205-242822206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146031038	chr1:242822209-242822210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139949432	chr1:242822217-242822218	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242820800-242821000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:242821200-242822400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:242822400-242823000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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