Variant report

Variant	esv3348447
Chromosome Location	chr19:23234846-23235316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551652028	chr19:23234908-23234909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535787741	chr19:23234921-23234922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192015704	chr19:23234940-23234941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571673594	chr19:23234961-23234962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77266664	chr19:23234967-23234968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184852037	chr19:23234977-23234978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187756756	chr19:23234981-23234982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377387153	chr19:23234996-23234997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79594422	chr19:23235022-23235023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111437431	chr19:23235028-23235029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370761926	chr19:23235061-23235062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562356537	chr19:23235072-23235073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529542099	chr19:23235097-23235098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145704939	chr19:23235113-23235114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73027659	chr19:23235123-23235124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192339171	chr19:23235134-23235135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184289795	chr19:23235140-23235141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570122241	chr19:23235161-23235162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189647809	chr19:23235163-23235164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148104944	chr19:23235198-23235199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568274638	chr19:23235232-23235233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535305747	chr19:23235308-23235309	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23232800-23235000	Weak transcription	Placenta	Placenta
2	chr19:23235000-23235800	Enhancers	Placenta	Placenta

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