Variant report

Variant	esv3427554
Chromosome Location	chr19:23250085-23250587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555862872	chr19:23250114-23250115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370344821	chr19:23250137-23250138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566873368	chr19:23250152-23250153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144028101	chr19:23250153-23250154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139580112	chr19:23250158-23250159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373235566	chr19:23250159-23250160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189930821	chr19:23250160-23250161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560832842	chr19:23250224-23250225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16999783	chr19:23250231-23250232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546159266	chr19:23250275-23250276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376382381	chr19:23250296-23250297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564359651	chr19:23250337-23250338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148650367	chr19:23250388-23250389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142114403	chr19:23250426-23250427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527380691	chr19:23250468-23250469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562170926	chr19:23250477-23250478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529902533	chr19:23250544-23250545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548130977	chr19:23250547-23250548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23248600-23252600	Weak transcription	Placenta	Placenta
2	chr19:23249800-23253200	Weak transcription	Brain Substantia Nigra	brain

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