Variant report

Variant	esv1977718
Chromosome Location	chr15:52889192-52889613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52888619..52891451-chr15:53020250..53023070,2	MCF-7	breast:
2	chr15:52542793..52545085-chr15:52889244..52891733,2	MCF-7	breast:
3	chr15:52888487..52890518-chr15:52930804..52932790,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555146599	chr15:52889225-52889226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143262793	chr15:52889245-52889246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190128809	chr15:52889249-52889250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368970215	chr15:52889363-52889364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4776061	chr15:52889367-52889368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142491282	chr15:52889372-52889373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150936712	chr15:52889377-52889378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74884636	chr15:52889380-52889381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574643309	chr15:52889382-52889383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575714464	chr15:52889385-52889386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77740326	chr15:52889397-52889398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372512269	chr15:52889401-52889402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77790678	chr15:52889402-52889403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140650834	chr15:52889406-52889407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80318181	chr15:52889407-52889408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62023350	chr15:52889417-52889418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529877025	chr15:52889420-52889421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547961846	chr15:52889421-52889422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62023351	chr15:52889425-52889426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80026636	chr15:52889437-52889438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62023352	chr15:52889448-52889449	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs372047212	chr15:52889503-52889504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551911457	chr15:52889504-52889505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570381122	chr15:52889530-52889531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368764351	chr15:52889532-52889533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538973668	chr15:52889557-52889558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34894452	chr15:52889613-52889614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52861200-52925200	Weak transcription	Stomach Mucosa	stomach
2	chr15:52861600-52901600	Weak transcription	Esophagus	oesophagus
3	chr15:52861800-52890600	Weak transcription	Fetal Kidney	kidney
4	chr15:52861800-52896800	Weak transcription	Hela-S3	cervix
5	chr15:52861800-52901600	Weak transcription	A549	lung
6	chr15:52861800-52908400	Weak transcription	Gastric	stomach
7	chr15:52861800-52934800	Weak transcription	Right Ventricle	heart
8	chr15:52862000-52901600	Weak transcription	Brain Angular Gyrus	brain
9	chr15:52866400-52889800	Weak transcription	Pancreas	Pancrea
10	chr15:52869200-52890200	Weak transcription	Aorta	Aorta
11	chr15:52869400-52895000	Weak transcription	Fetal Heart	heart
12	chr15:52869400-52945400	Weak transcription	Small Intestine	intestine
13	chr15:52869800-52900000	Strong transcription	Primary B cells from cord blood	blood
14	chr15:52870200-52905000	Weak transcription	HMEC	breast
15	chr15:52871200-52890400	Weak transcription	GM12878-XiMat	blood
16	chr15:52871200-52901600	Weak transcription	Dnd41	blood
17	chr15:52871800-52902200	Weak transcription	Fetal Brain Male	brain
18	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:52872000-52900200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr15:52872200-52933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:52872400-52897800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:52872600-52890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:52872600-52891000	Weak transcription	HUVEC	blood vessel
24	chr15:52872600-52920800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:52873400-52928000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:52873600-52898800	Strong transcription	Adipose Nuclei	Adipose
27	chr15:52873800-52909600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr15:52874200-52900000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:52874200-52917000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:52874800-52893200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr15:52874800-52901200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:52874800-52944200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:52875400-52916200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:52875800-52894800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr15:52878200-52909600	Strong transcription	Liver	Liver
36	chr15:52878600-52898400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:52879400-52895800	Weak transcription	Colonic Mucosa	Colon
38	chr15:52880800-52898000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:52881400-52901600	Weak transcription	Psoas Muscle	Psoas
40	chr15:52882200-52920000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:52882400-52906200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr15:52882400-52926000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr15:52883000-52897200	Strong transcription	Placenta	Placenta
44	chr15:52883200-52891200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:52884200-52901600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:52884600-52890000	Weak transcription	Ovary	ovary
47	chr15:52884600-52893800	Weak transcription	NH-A	brain
48	chr15:52884600-52901600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:52885000-52891000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:52885200-52894800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links