Variant report

Variant	esv3410349
Chromosome Location	chr1:242948928-242949185
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	chr1:242938370..242940205-chr1:242949135..242951746,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534470004	chr1:242948934-242948935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2067299	chr1:242948965-242948966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397810840	chr1:242948966-242948967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2151551	chr1:242948987-242948988	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570799923	chr1:242949002-242949003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539889148	chr1:242949005-242949006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553036388	chr1:242949007-242949008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569139700	chr1:242949031-242949032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141372898	chr1:242949050-242949051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377285223	chr1:242949062-242949063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535954360	chr1:242949075-242949076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12082179	chr1:242949091-242949092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs180997774	chr1:242949127-242949128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145096401	chr1:242949131-242949132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560217197	chr1:242949168-242949169	Weak transcription Enhancers	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242945800-242955000	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:242948000-242951800	Enhancers	Primary B cells from cord blood	blood
3	chr1:242948200-242950800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:242948400-242950600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:242948400-242951800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:242948600-242950600	Weak transcription	HSMMtube	muscle
7	chr1:242948800-242950800	Weak transcription	HSMM	muscle
8	chr1:242948800-242951800	Weak transcription	GM12878-XiMat	blood

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