Variant report

Variant	esv3330597
Chromosome Location	chr7:6342882-6343074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367791722	chr7:6342890-6342891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187141302	chr7:6342911-6342912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73339229	chr7:6342918-6342919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527306245	chr7:6342929-6342930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369708984	chr7:6342930-6342931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572553555	chr7:6342947-6342948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12536899	chr7:6342966-6342967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4354228	chr7:6342967-6342968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs200203390	chr7:6342969-6342970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113764015	chr7:6342989-6342990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566035208	chr7:6343007-6343008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532038015	chr7:6343013-6343014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190755493	chr7:6343063-6343064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562048922	chr7:6343064-6343065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6330400-6345200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:6335400-6347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:6337600-6345400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:6341600-6345600	Weak transcription	Placenta	Placenta
5	chr7:6342200-6345200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:6342400-6346000	Weak transcription	Osteobl	bone
7	chr7:6342600-6343000	Enhancers	A549	lung
8	chr7:6342600-6343000	Enhancers	HUVEC	blood vessel
9	chr7:6342800-6343000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:6342800-6343200	Enhancers	Adipose Nuclei	Adipose
11	chr7:6342800-6346000	Weak transcription	NHDF-Ad	bronchial
12	chr7:6343000-6344800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:6343000-6344800	Weak transcription	A549	lung
14	chr7:6343000-6346000	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links