Variant report

Variant	esv2760394
Chromosome Location	chr15:31297865-31306229
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	chr15:31283320..31285509-chr15:31302776..31304793,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166912	chromatin interactions

Extended variants
information (count: 256 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7182907	chr15:31297865-31297866	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs372000987	chr15:31297875-31297876	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537726227	chr15:31297888-31297889	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142326880	chr15:31297905-31297906	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs74473908	chr15:31297971-31297972	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540179208	chr15:31298029-31298030	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369931136	chr15:31298050-31298051	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559739509	chr15:31298098-31298099	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs573368569	chr15:31298130-31298131	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs146387561	chr15:31298140-31298141	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7161796	chr15:31298145-31298146	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs16956441	chr15:31298151-31298152	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571847250	chr15:31298154-31298155	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs35004030	chr15:31298221-31298222	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs185563643	chr15:31298271-31298272	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564763502	chr15:31298277-31298278	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7167074	chr15:31298352-31298353	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs368825115	chr15:31298353-31298354	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148049513	chr15:31298393-31298394	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs141788196	chr15:31298403-31298404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554512041	chr15:31298423-31298424	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7182571	chr15:31298442-31298443	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150601184	chr15:31298445-31298446	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113153992	chr15:31298450-31298451	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7166214	chr15:31298483-31298484	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112574238	chr15:31298490-31298491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573687452	chr15:31298628-31298629	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577840845	chr15:31298717-31298718	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35616506	chr15:31298737-31298738	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562398432	chr15:31298742-31298743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553337679	chr15:31298761-31298762	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142208759	chr15:31298918-31298919	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189278204	chr15:31298923-31298924	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542313797	chr15:31298935-31298936	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562285423	chr15:31298996-31298997	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576067795	chr15:31299018-31299019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72710454	chr15:31299024-31299025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192659801	chr15:31299052-31299053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544794534	chr15:31299104-31299105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547349994	chr15:31299185-31299186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184934722	chr15:31299209-31299210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188528912	chr15:31299214-31299215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181039139	chr15:31299227-31299228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560062746	chr15:31299329-31299330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185902204	chr15:31299425-31299426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139225286	chr15:31299480-31299481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551519791	chr15:31299513-31299514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143969953	chr15:31299528-31299529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534073278	chr15:31299557-31299558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553699894	chr15:31299578-31299579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	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
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	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
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31291800-31308000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:31293600-31298400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:31294600-31298600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:31296000-31298000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr15:31296000-31298200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:31296400-31298200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:31296600-31298000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:31296600-31299000	Enhancers	Primary B cells from cord blood	blood
9	chr15:31296600-31299000	Enhancers	Primary B cells from peripheral blood	blood
10	chr15:31296600-31304200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:31296800-31298200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr15:31296800-31300200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr15:31296800-31306200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:31297000-31302200	Weak transcription	HMEC	breast
15	chr15:31297200-31298000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:31297200-31298000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:31297400-31298000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:31297600-31298400	Flanking Active TSS	GM12878-XiMat	blood
19	chr15:31297800-31298000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr15:31297800-31298000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr15:31297800-31298000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:31298400-31299000	Enhancers	GM12878-XiMat	blood
23	chr15:31298400-31304600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:31298600-31299000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:31299000-31301000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr15:31299000-31301200	Weak transcription	GM12878-XiMat	blood
27	chr15:31299000-31308800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:31301000-31301600	Enhancers	Primary B cells from peripheral blood	blood
29	chr15:31301200-31301600	Enhancers	GM12878-XiMat	blood
30	chr15:31301200-31301800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:31302200-31302600	Enhancers	HMEC	breast
32	chr15:31302200-31302800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:31302200-31302800	Enhancers	NHEK	skin
34	chr15:31304200-31305000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:31304200-31305200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr15:31304600-31307600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:31305000-31314800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:31305200-31305400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:31305200-31306200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:31305200-31308200	Enhancers	Primary B cells from peripheral blood	blood
41	chr15:31305200-31309200	Enhancers	Placenta	Placenta
42	chr15:31305400-31306800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:31305600-31305800	Enhancers	GM12878-XiMat	blood
44	chr15:31305600-31306000	Enhancers	Primary T cells from cord blood	blood
45	chr15:31305600-31307200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr15:31305600-31307800	Enhancers	Primary B cells from cord blood	blood
47	chr15:31305800-31306000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr15:31305800-31306200	Enhancers	Liver	Liver
49	chr15:31305800-31306400	Enhancers	HepG2	liver
50	chr15:31305800-31307000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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