Variant report

Variant	esv3434922
Chromosome Location	chr7:3555998-3556381
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	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575546219	chr7:3556043-3556044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs939913	chr7:3556057-3556058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs558019409	chr7:3556096-3556097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577850405	chr7:3556105-3556106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539650191	chr7:3556122-3556123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537280398	chr7:3556124-3556125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1108879	chr7:3556132-3556133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573670857	chr7:3556170-3556171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192546296	chr7:3556195-3556196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184187428	chr7:3556224-3556225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531326035	chr7:3556239-3556240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551745026	chr7:3556310-3556311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370067457	chr7:3556313-3556314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145773557	chr7:3556322-3556323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527513969	chr7:3556354-3556355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577284975	chr7:3556369-3556370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187538366	chr7:3556380-3556381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3550800-3557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3551600-3557000	Weak transcription	Pancreas	Pancrea
4	chr7:3554800-3563000	Weak transcription	Aorta	Aorta
5	chr7:3555800-3556200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:3556200-3557600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:3556200-3559800	Enhancers	Pancreatic Islets	Pancreatic Islet

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