Variant report

Variant	esv16746
Chromosome Location	chr15:51518901-51519954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr15:51519377-51519378	HepG2	liver:	n/a	n/a
2	MYC	chr15:51518882-51519082	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:51511082..51513770-chr15:51518994..51521491,2	K562	blood:
2	chr15:51514557..51518713-chr15:51518929..51521836,3	K562	blood:
3	chr15:51518976..51520763-chr15:51526661..51528605,2	MCF-7	breast:
4	chr15:51515145..51517510-chr15:51519278..51520848,2	MCF-7	breast:

Variant related genes	Relation type
CYP19A1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571117880	chr15:51518914-51518915	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs115421099	chr15:51518924-51518925	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549923439	chr15:51518934-51518935	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs570428613	chr15:51518973-51518974	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs571261478	chr15:51519013-51519014	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538699998	chr15:51519015-51519016	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs547094277	chr15:51519043-51519044	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2899473	chr15:51519073-51519074	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547547481	chr15:51519094-51519095	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57858247	chr15:51519122-51519123	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536537511	chr15:51519197-51519198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192262971	chr15:51519228-51519229	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539317142	chr15:51519244-51519245	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576363134	chr15:51519246-51519247	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4775935	chr15:51519276-51519277	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs558757027	chr15:51519391-51519392	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376086858	chr15:51519414-51519415	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578043801	chr15:51519419-51519420	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545465594	chr15:51519476-51519477	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555644019	chr15:51519510-51519511	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560311460	chr15:51519525-51519526	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572399738	chr15:51519566-51519567	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566283409	chr15:51519603-51519604	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542956469	chr15:51519644-51519645	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77738071	chr15:51519654-51519655	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531840779	chr15:51519670-51519671	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28729489	chr15:51519749-51519750	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149494347	chr15:51519869-51519870	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67447182	chr15:51519870-51519871	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60271534	chr15:51519896-51519897	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368026002	chr15:51519897-51519898	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57921193	chr15:51519899-51519900	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112976147	chr15:51519945-51519946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11575899	chr15:51519946-51519947	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386382978	chr15:51519947-51519948	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397758290	chr15:51519949-51519950	Weak transcription Enhancers Strong transcription	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51500000-51520000	Strong transcription	Placenta	Placenta
2	chr15:51513200-51520400	Weak transcription	HepG2	liver
3	chr15:51515200-51519600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:51515200-51520400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:51515200-51521000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr15:51515200-51521600	Enhancers	NHDF-Ad	bronchial
7	chr15:51515400-51520600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:51516200-51520000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:51516400-51520000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:51516400-51520200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:51516400-51520400	Weak transcription	Aorta	Aorta
12	chr15:51516600-51520000	Weak transcription	Hela-S3	cervix
13	chr15:51516600-51520200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr15:51516800-51520000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:51516800-51520000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr15:51516800-51520400	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:51517000-51520400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:51517200-51520000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:51517200-51520000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:51517200-51520000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:51517200-51520000	Weak transcription	NH-A	brain
22	chr15:51517200-51520400	Weak transcription	Brain Anterior Caudate	brain
23	chr15:51517400-51519000	Weak transcription	Osteobl	bone
24	chr15:51517400-51520000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:51517400-51520000	Weak transcription	HSMMtube	muscle
26	chr15:51517400-51520000	Weak transcription	HUVEC	blood vessel
27	chr15:51517400-51520200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr15:51517600-51519600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:51517600-51519600	Weak transcription	HMEC	breast
30	chr15:51518200-51519800	Enhancers	Fetal Brain Male	brain
31	chr15:51518200-51520400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:51518400-51521400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr15:51518600-51519000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr15:51518600-51519000	Enhancers	HSMM	muscle
35	chr15:51518600-51520400	Enhancers	K562	blood
36	chr15:51518800-51519400	Weak transcription	NHLF	lung
37	chr15:51518800-51520200	Enhancers	GM12878-XiMat	blood
38	chr15:51518800-51520400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:51518800-51520400	Enhancers	Fetal Brain Female	brain
40	chr15:51519000-51520000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:51519000-51520000	Weak transcription	HSMM	muscle
42	chr15:51519000-51520200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:51519000-51520200	Enhancers	Osteobl	bone
44	chr15:51519400-51521400	Enhancers	NHLF	lung
45	chr15:51519600-51519800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:51519600-51520800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:51519600-51521200	Enhancers	HMEC	breast
48	chr15:51519600-51521400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:51519800-51520000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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