Variant report

Variant	esv3352895
Chromosome Location	chr19:21788616-21790593
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	chr19:21788851..21790670-chr19:21793445..21795166,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569365501	chr19:21788640-21788641	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59374176	chr19:21788641-21788642	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397810746	chr19:21788652-21788653	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200625001	chr19:21788653-21788654	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539297490	chr19:21788656-21788657	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370160402	chr19:21788658-21788659	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551562261	chr19:21788679-21788680	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200710773	chr19:21788693-21788694	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569919369	chr19:21788702-21788703	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369973479	chr19:21788763-21788764	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116953324	chr19:21788766-21788767	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367830085	chr19:21788807-21788808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59650687	chr19:21788835-21788836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74167868	chr19:21788852-21788853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146523036	chr19:21788854-21788855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553236250	chr19:21788858-21788859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368772188	chr19:21788894-21788895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114591923	chr19:21788907-21788908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563564503	chr19:21788958-21788959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58463686	chr19:21788992-21788993	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs141076985	chr19:21789017-21789018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62110252	chr19:21789044-21789045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs151182989	chr19:21789046-21789047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547460910	chr19:21789061-21789062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374361563	chr19:21789071-21789072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559143929	chr19:21789104-21789105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188621969	chr19:21789160-21789161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551257752	chr19:21789183-21789184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112690617	chr19:21789203-21789204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538954997	chr19:21789239-21789240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs8110320	chr19:21789256-21789257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs549325762	chr19:21789257-21789258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566118993	chr19:21789271-21789272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs137996985	chr19:21789279-21789280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376917515	chr19:21789314-21789315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545275984	chr19:21789317-21789318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534747995	chr19:21789325-21789326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566817868	chr19:21789335-21789336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62110253	chr19:21789339-21789340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553339209	chr19:21789355-21789356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571601123	chr19:21789363-21789364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534908016	chr19:21789372-21789373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539141283	chr19:21789393-21789394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557119833	chr19:21789409-21789410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57617684	chr19:21789421-21789422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542913347	chr19:21789465-21789466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554885088	chr19:21789472-21789473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35830602	chr19:21789531-21789532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143449016	chr19:21789550-21789551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3933138	chr19:21789574-21789575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21788000-21789000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr19:21788000-21789000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:21788000-21789000	Enhancers	Fetal Intestine Large	intestine
4	chr19:21788000-21789000	Enhancers	K562	blood
5	chr19:21788200-21788800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr19:21788200-21788800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:21788200-21789000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr19:21788200-21789000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:21788200-21789000	Enhancers	Fetal Intestine Small	intestine
10	chr19:21788200-21789000	Enhancers	Fetal Lung	lung
11	chr19:21788200-21789400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:21788200-21789600	Enhancers	Dnd41	blood
13	chr19:21788200-21790400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr19:21788200-21791600	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:21788200-21794400	Weak transcription	Ovary	ovary
16	chr19:21788400-21789000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:21788400-21789000	Enhancers	Fetal Kidney	kidney
18	chr19:21788400-21790400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:21788400-21790600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr19:21788400-21790600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr19:21788400-21791000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:21788400-21792800	Weak transcription	Primary T cells from cord blood	blood
23	chr19:21788400-21793600	Weak transcription	Adipose Nuclei	Adipose
24	chr19:21789000-21790200	Weak transcription	Fetal Intestine Large	intestine
25	chr19:21789000-21790200	Weak transcription	Fetal Intestine Small	intestine
26	chr19:21789000-21790200	Weak transcription	K562	blood
27	chr19:21789000-21790400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:21789000-21790400	Weak transcription	Fetal Kidney	kidney
29	chr19:21789000-21790400	Weak transcription	Fetal Lung	lung
30	chr19:21789000-21790600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:21789000-21797000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:21789400-21790400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:21789600-21790000	Weak transcription	Dnd41	blood
34	chr19:21790000-21794400	Enhancers	Dnd41	blood
35	chr19:21790200-21791800	Enhancers	K562	blood
36	chr19:21790200-21792000	Enhancers	Fetal Intestine Large	intestine
37	chr19:21790200-21792000	Enhancers	Fetal Intestine Small	intestine
38	chr19:21790400-21790600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr19:21790400-21790600	Enhancers	Liver	Liver
40	chr19:21790400-21790800	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr19:21790400-21791000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr19:21790400-21791600	Enhancers	Fetal Kidney	kidney
43	chr19:21790400-21791800	Enhancers	Fetal Lung	lung
44	chr19:21790400-21792000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:21790400-21796000	Enhancers	Primary hematopoietic stem cells	blood

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