Variant report

Variant	esv3332724
Chromosome Location	chr1:242710568-242711242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534408791	chr1:242710593-242710594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183036360	chr1:242710630-242710631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543954248	chr1:242710659-242710660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578099301	chr1:242710685-242710686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1039527	chr1:242710694-242710695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549938599	chr1:242710718-242710719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1039528	chr1:242710738-242710739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144176004	chr1:242710756-242710757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377320921	chr1:242710757-242710758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72552910	chr1:242710758-242710759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75578211	chr1:242710760-242710761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7551410	chr1:242710816-242710817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75044578	chr1:242710836-242710837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559776799	chr1:242710875-242710876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377486727	chr1:242710889-242710890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573300167	chr1:242710895-242710896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573127047	chr1:242710927-242710928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370917186	chr1:242710933-242710934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540746808	chr1:242710938-242710939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1005007	chr1:242710955-242710956	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1005006	chr1:242710989-242710990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73150033	chr1:242711094-242711095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2174206	chr1:242711109-242711110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562933784	chr1:242711123-242711124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1005005	chr1:242711159-242711160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145440076	chr1:242711180-242711181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548581553	chr1:242711182-242711183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112007262	chr1:242711189-242711190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553789846	chr1:242711198-242711199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559192214	chr1:242711208-242711209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537204940	chr1:242711220-242711221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557543221	chr1:242711236-242711237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242709600-242710800	Enhancers	HMEC	breast
2	chr1:242709800-242710800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:242710000-242711000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:242710400-242710600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:242711000-242718000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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