Variant report

Variant	esv3427419
Chromosome Location	chr10:4184576-4184815
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	chr10:4182960..4185170-chr10:4194252..4196255,2	MCF-7	breast:
2	chr10:3823368..3825463-chr10:4184298..4185856,2	K562	blood:

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 55 )

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	rs139656984	chr10:4184603-4184604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535227090	chr10:4184614-4184615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190467322	chr10:4184617-4184618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4881298	chr10:4184635-4184636	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144555200	chr10:4184659-4184660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs72776546	chr10:4184660-4184661	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78045773	chr10:4184693-4184694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543013665	chr10:4184708-4184709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558662129	chr10:4184714-4184715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537566638	chr10:4184720-4184721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183001075	chr10:4184740-4184741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12243807	chr10:4184768-4184769	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75977114	chr10:4184778-4184779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377589959	chr10:4184795-4184796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553512469	chr10:4184808-4184809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4174800-4187000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:4184000-4187000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:4184200-4193600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:4184400-4187200	Weak transcription	Esophagus	oesophagus
5	chr10:4184400-4187200	Weak transcription	Gastric	stomach

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