Variant report

Variant	esv3329595
Chromosome Location	chr15:51422485-51425033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51417258..51420710-chr15:51423538..51426372,3	MCF-7	breast:
2	chr15:51424409..51425763-chr15:51694743..51695941,3	MCF-7	breast:
3	chr15:51420457..51423760-chr15:51427443..51431261,3	MCF-7	breast:
4	chr15:51407595..51409362-chr15:51423649..51426297,2	MCF-7	breast:
5	chr15:51425013..51425714-chr15:51674755..51675460,2	MCF-7	breast:
6	chr15:51416586..51418665-chr15:51422600..51425240,2	MCF-7	breast:
7	chr15:51422871..51424520-chr15:51426072..51428087,2	K562	blood:
8	chr15:51386847..51389829-chr15:51423668..51425272,2	MCF-7	breast:
9	chr15:51424780..51426009-chr15:51484368..51485483,10	MCF-7	breast:
10	chr15:51295054..51296990-chr15:51420438..51423061,2	K562	blood:
11	chr15:51424835..51425877-chr15:51454808..51456221,4	MCF-7	breast:
12	chr15:51231463..51232073-chr15:51424824..51425630,2	MCF-7	breast:
13	chr15:51418702..51420720-chr15:51424387..51427020,3	MCF-7	breast:
14	chr15:51419195..51421876-chr15:51424233..51426848,2	K562	blood:
15	chr15:51424799..51425687-chr15:51484566..51485090,2	K562	blood:

No data

Extended variants
information (count: 104 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577873353	chr15:51422486-51422487	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530975698	chr15:51422551-51422552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs28495443	chr15:51422553-51422554	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560429441	chr15:51422563-51422564	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527479200	chr15:51422601-51422602	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540757172	chr15:51422616-51422617	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562194574	chr15:51422661-51422662	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs141644434	chr15:51422738-51422739	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115404067	chr15:51422742-51422743	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147073640	chr15:51422805-51422806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572869341	chr15:51422819-51422820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551657721	chr15:51422832-51422833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147657599	chr15:51422873-51422874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574063821	chr15:51422877-51422878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142342443	chr15:51422889-51422890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567377255	chr15:51422893-51422894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538294848	chr15:51422905-51422906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34324767	chr15:51422906-51422907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143169031	chr15:51422911-51422912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148276546	chr15:51422919-51422920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12440795	chr15:51422929-51422930	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538982066	chr15:51422951-51422952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141378683	chr15:51422970-51422971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577764962	chr15:51422984-51422985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554086713	chr15:51423029-51423030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544941097	chr15:51423110-51423111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572303207	chr15:51423160-51423161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150344006	chr15:51423170-51423171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11856156	chr15:51423175-51423176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574080660	chr15:51423190-51423191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7162576	chr15:51423212-51423213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138075750	chr15:51423230-51423231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533137846	chr15:51423231-51423232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80082389	chr15:51423237-51423238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560431025	chr15:51423355-51423356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527952366	chr15:51423415-51423416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549558508	chr15:51423419-51423420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567718486	chr15:51423427-51423428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370859633	chr15:51423429-51423430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71127186	chr15:51423454-51423455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs58758752	chr15:51423455-51423456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60145718	chr15:51423459-51423460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12906530	chr15:51423463-51423464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7167988	chr15:51423468-51423469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12906541	chr15:51423481-51423482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201562932	chr15:51423485-51423486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111519774	chr15:51423487-51423488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71127187	chr15:51423488-51423489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12905377	chr15:51423489-51423490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376552407	chr15:51423522-51423523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51413800-51424400	Weak transcription	HSMMtube	muscle
2	chr15:51419600-51424000	Weak transcription	HSMM	muscle
3	chr15:51420400-51426400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:51420800-51423800	Weak transcription	Osteobl	bone
5	chr15:51421000-51423800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr15:51421200-51424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:51421400-51423800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:51421400-51423800	Weak transcription	NHDF-Ad	bronchial
9	chr15:51421400-51424000	Weak transcription	HepG2	liver
10	chr15:51421600-51422600	Enhancers	Fetal Muscle Leg	muscle
11	chr15:51421600-51422800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr15:51421800-51424000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:51422000-51423800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:51422200-51422600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr15:51422200-51424200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:51422600-51422800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr15:51422600-51425000	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:51422800-51423000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:51422800-51424200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:51422800-51424400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:51423200-51426800	Enhancers	HUVEC	blood vessel
22	chr15:51423800-51424000	Weak transcription	Aorta	Aorta
23	chr15:51423800-51424200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:51423800-51425400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:51423800-51425600	Enhancers	NH-A	brain
26	chr15:51423800-51425800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:51423800-51425800	Enhancers	Osteobl	bone
28	chr15:51423800-51426000	Enhancers	NHDF-Ad	bronchial
29	chr15:51423800-51426400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr15:51423800-51426400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:51424000-51424200	Enhancers	Aorta	Aorta
32	chr15:51424000-51424400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:51424000-51424800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:51424000-51424800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr15:51424000-51425000	Enhancers	HepG2	liver
36	chr15:51424000-51425200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr15:51424000-51425800	Enhancers	NHLF	lung
38	chr15:51424000-51426000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:51424000-51426000	Enhancers	HMEC	breast
40	chr15:51424000-51426000	Enhancers	HSMM	muscle
41	chr15:51424200-51424400	Weak transcription	Aorta	Aorta
42	chr15:51424200-51424600	Enhancers	A549	lung
43	chr15:51424200-51425000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:51424200-51425400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:51424200-51425800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr15:51424200-51427200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:51424200-51427600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:51424400-51424800	Enhancers	Hela-S3	cervix
49	chr15:51424400-51425600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr15:51424400-51425800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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