Variant report

Variant	esv3368619
Chromosome Location	chr19:21765720-21766146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369705927	chr19:21765730-21765731	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374093727	chr19:21765733-21765734	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377584846	chr19:21765739-21765740	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199718390	chr19:21765759-21765760	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73027774	chr19:21765774-21765775	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375847597	chr19:21765789-21765790	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74174022	chr19:21765790-21765791	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199759438	chr19:21765794-21765795	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575642839	chr19:21765823-21765824	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112602649	chr19:21765826-21765827	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561236235	chr19:21765861-21765862	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573195385	chr19:21765917-21765918	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111727989	chr19:21765946-21765947	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561990240	chr19:21765972-21765973	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565419587	chr19:21766024-21766025	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532595556	chr19:21766035-21766036	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192897291	chr19:21766051-21766052	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35107576	chr19:21766082-21766083	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562827298	chr19:21766090-21766091	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375676276	chr19:21766094-21766095	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139632701	chr19:21766098-21766099	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576686602	chr19:21766106-21766107	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548493797	chr19:21766113-21766114	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545638205	chr19:21766122-21766123	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21752000-21769600	Weak transcription	Fetal Heart	heart
2	chr19:21752800-21766200	Weak transcription	Fetal Intestine Large	intestine
3	chr19:21753000-21768000	Weak transcription	Fetal Intestine Small	intestine
4	chr19:21760200-21768000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:21760400-21769000	Weak transcription	Fetal Kidney	kidney
6	chr19:21762600-21766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:21763400-21767200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:21763400-21767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:21763400-21768000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:21764000-21767400	Weak transcription	Primary T cells from cord blood	blood
11	chr19:21764000-21767400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:21764400-21767600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr19:21764600-21768000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:21764800-21766200	Weak transcription	Gastric	stomach
15	chr19:21764800-21769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:21765000-21767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr19:21765200-21766200	Weak transcription	Pancreas	Pancrea
18	chr19:21765600-21766200	Genic enhancers	Dnd41	blood

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