Variant report

Variant	esv3419441
Chromosome Location	chr19:21762728-21762933
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	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 38 )

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	rs145570184	chr19:21762745-21762746	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs11882927	chr19:21762781-21762782	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73929345	chr19:21762787-21762788	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs73929347	chr19:21762789-21762790	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs576088283	chr19:21762808-21762809	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73027758	chr19:21762814-21762815	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73929349	chr19:21762822-21762823	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377611250	chr19:21762844-21762845	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370972833	chr19:21762849-21762850	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200413267	chr19:21762857-21762858	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201408755	chr19:21762894-21762895	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202210677	chr19:21762911-21762912	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73027759	chr19:21762924-21762925	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543132142	chr19:21762931-21762932	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:21 , 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	chr19:21753200-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:21757000-21764400	Weak transcription	Pancreas	Pancrea
6	chr19:21757400-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:21759400-21764600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:21760200-21768000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:21760400-21769000	Weak transcription	Fetal Kidney	kidney
10	chr19:21762200-21763200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:21762200-21764000	Enhancers	Primary T cells from cord blood	blood
12	chr19:21762200-21765000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:21762400-21762800	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr19:21762400-21763000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr19:21762400-21763200	Enhancers	Thymus	Thymus
16	chr19:21762400-21763800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr19:21762400-21764000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr19:21762600-21766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:21762800-21763000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:21762800-21763200	Genic enhancers	Dnd41	blood
21	chr19:21762800-21763400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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