Variant report

Variant	esv3376730
Chromosome Location	chr19:21658948-21659300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	rs549882315	chr19:21658955-21658956	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375402483	chr19:21658961-21658962	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201676509	chr19:21658995-21658996	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78739913	chr19:21659022-21659023	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565497668	chr19:21659028-21659029	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74673339	chr19:21659035-21659036	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113105451	chr19:21659040-21659041	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537970145	chr19:21659087-21659088	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112035415	chr19:21659098-21659099	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs4332859	chr19:21659168-21659169	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs1566477	chr19:21659175-21659176	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs182709392	chr19:21659186-21659187	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186855012	chr19:21659219-21659220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115512390	chr19:21659223-21659224	Weak transcription	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21657000-21659000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:21657200-21659000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:21657200-21659200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:21657400-21659000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:21657600-21659200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:21658000-21659000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:21658000-21665600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:21658000-21665800	Weak transcription	Gastric	stomach
9	chr19:21658000-21665800	Weak transcription	Lung	lung
10	chr19:21658200-21665800	Weak transcription	Right Ventricle	heart
11	chr19:21658200-21667400	Weak transcription	Right Atrium	heart
12	chr19:21658200-21687800	Weak transcription	Brain Substantia Nigra	brain
13	chr19:21658400-21664200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:21658400-21665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:21658600-21659000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr19:21658600-21665800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:21658800-21665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:21658800-21665800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:21659000-21659200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr19:21659000-21659200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr19:21659000-21659200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:21659000-21665800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:21659200-21665800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:21659200-21666000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:21659200-21668400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links