Variant report

Variant	nsv456792
Chromosome Location	chr15:34276169-34277907
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	BATF	chr15:34276774-34277065	GM12878	blood:	n/a	n/a
2	CEBPB	chr15:34277504-34277907	IMR90	lung:	n/a	n/a
3	CEBPB	chr15:34277554-34277832	HepG2	liver:	n/a	n/a
4	CEBPB	chr15:34277587-34277835	H1-hESC	embryonic stem cell:	n/a	n/a
5	GATA3	chr15:34277408-34278313	SK-N-SH	brain:	n/a	chr15:34278148-34278159
6	GATA3	chr15:34277698-34278327	MCF-7	breast:	n/a	chr15:34278148-34278159
7	GATA3	chr15:34277506-34278356	SK-N-SH	brain:	n/a	chr15:34278148-34278159
8	JUND	chr15:34277362-34278262	SK-N-SH	brain:	n/a	n/a
9	JUND	chr15:34277531-34277859	H1-hESC	embryonic stem cell:	n/a	n/a
10	NR3C1	chr15:34277325-34277839	A549	lung:	n/a	n/a
11	NR3C1	chr15:34277607-34277814	ECC-1	luminal epithelium:	n/a	n/a
12	NR3C1	chr15:34277331-34277850	A549	lung:	n/a	n/a
13	NR3C1	chr15:34277487-34277658	A549	lung:	n/a	n/a
14	PBX3	chr15:34277558-34277936	SK-N-SH	brain:	n/a	n/a
15	RUNX3	chr15:34276797-34277254	GM12878	blood:	n/a	chr15:34277035-34277044 chr15:34277035-34277044
16	STAT3	chr15:34277546-34277816	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr15:34277580-34277815	MCF10A-Er-Src	breast:	n/a	n/a
18	TCF12	chr15:34277426-34278294	SK-N-SH	brain:	n/a	n/a
19	TEAD4	chr15:34277595-34277963	ECC-1	luminal epithelium:	n/a	n/a
20	TEAD4	chr15:34277619-34277942	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr15:34277568-34278044	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000259505	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8035125	chr15:34276169-34276170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191731059	chr15:34276187-34276188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8039574	chr15:34276204-34276205	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2551415	chr15:34276229-34276230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs8035294	chr15:34276247-34276248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140009973	chr15:34276248-34276249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs8039609	chr15:34276268-34276269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556535474	chr15:34276285-34276286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554434264	chr15:34276327-34276328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181691853	chr15:34276425-34276426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533689747	chr15:34276430-34276431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75100436	chr15:34276459-34276460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576815030	chr15:34276465-34276466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185648580	chr15:34276471-34276472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199809494	chr15:34276505-34276506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6495421	chr15:34276570-34276571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs115188490	chr15:34276574-34276575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541707956	chr15:34276598-34276599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6495422	chr15:34276599-34276600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs11363064	chr15:34276609-34276610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201818659	chr15:34276620-34276621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190406640	chr15:34276648-34276649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543228535	chr15:34276655-34276656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545633220	chr15:34276661-34276662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564615405	chr15:34276672-34276673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6495423	chr15:34276680-34276681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs550220226	chr15:34276690-34276691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568441935	chr15:34276717-34276718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529647689	chr15:34276720-34276721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369416386	chr15:34276728-34276729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548099030	chr15:34276729-34276730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529001232	chr15:34276730-34276731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6495424	chr15:34276738-34276739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs540023896	chr15:34276765-34276766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60551319	chr15:34276849-34276850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139968966	chr15:34276872-34276873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6495425	chr15:34276895-34276896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs555776794	chr15:34276898-34276899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6495426	chr15:34276899-34276900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs75761399	chr15:34276917-34276918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs8038713	chr15:34276989-34276990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs572207358	chr15:34276993-34276994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545995551	chr15:34277012-34277013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79808901	chr15:34277027-34277028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576507805	chr15:34277034-34277035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543918027	chr15:34277035-34277036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1685119	chr15:34277053-34277054	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs111811723	chr15:34277152-34277153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529300404	chr15:34277153-34277154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547764540	chr15:34277214-34277215	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34236800-34277200	Weak transcription	Left Ventricle	heart
2	chr15:34238000-34282400	Weak transcription	Ovary	ovary
3	chr15:34261200-34277200	Weak transcription	Brain Anterior Caudate	brain
4	chr15:34263800-34277200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:34264400-34277000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:34264800-34281200	Weak transcription	GM12878-XiMat	blood
7	chr15:34265200-34299600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:34265400-34294200	Weak transcription	Fetal Stomach	stomach
9	chr15:34265400-34311800	Weak transcription	Liver	Liver
10	chr15:34270000-34276800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:34270200-34277400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr15:34271600-34277200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:34271600-34277400	Weak transcription	Pancreas	Pancrea
14	chr15:34273000-34277600	Weak transcription	NHEK	skin
15	chr15:34274000-34277000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:34274000-34277200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:34274000-34277400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:34274000-34277400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:34274200-34277400	Weak transcription	NHLF	lung
20	chr15:34274400-34311000	Weak transcription	Primary B cells from cord blood	blood
21	chr15:34274600-34276800	Weak transcription	Placenta	Placenta
22	chr15:34275200-34277000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:34275400-34293200	Weak transcription	Primary T cells from cord blood	blood
24	chr15:34275600-34276200	Enhancers	Brain Angular Gyrus	brain
25	chr15:34275600-34276400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:34275800-34276400	Enhancers	Brain Substantia Nigra	brain
27	chr15:34276000-34277000	Weak transcription	Aorta	Aorta
28	chr15:34276200-34277200	Weak transcription	Brain Angular Gyrus	brain
29	chr15:34276400-34276800	Weak transcription	Brain Substantia Nigra	brain
30	chr15:34276400-34277200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:34276800-34277600	Enhancers	HepG2	liver
32	chr15:34276800-34278200	Enhancers	Brain Cingulate Gyrus	brain
33	chr15:34276800-34278200	Enhancers	Brain Substantia Nigra	brain
34	chr15:34276800-34278400	Enhancers	Brain Hippocampus Middle	brain
35	chr15:34276800-34278400	Enhancers	Placenta	Placenta
36	chr15:34277000-34277200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:34277000-34277200	Enhancers	HMEC	breast
38	chr15:34277000-34277400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:34277000-34277400	Enhancers	Aorta	Aorta
40	chr15:34277000-34277400	Enhancers	Osteobl	bone
41	chr15:34277000-34277800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr15:34277000-34278000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr15:34277000-34278000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:34277000-34278000	Enhancers	Adipose Nuclei	Adipose
45	chr15:34277000-34278000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr15:34277000-34278200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr15:34277000-34278200	Enhancers	HSMMtube	muscle
48	chr15:34277200-34277600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:34277200-34277600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:34277200-34278000	Enhancers	H9 Cell Line	embryonic stem cell

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