Variant report

Variant	nsv526717
Chromosome Location	chr15:78410289-78413016
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	chr15:78411897..78414828-chr15:78414892..78418172,3	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16969514	chr15:78410289-78410290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563318222	chr15:78410391-78410392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150197914	chr15:78410404-78410405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551956732	chr15:78410421-78410422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7162025	chr15:78410422-78410423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs528051017	chr15:78410455-78410456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145689043	chr15:78410456-78410457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568107179	chr15:78410486-78410487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200124846	chr15:78410499-78410500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536921804	chr15:78410507-78410508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7161765	chr15:78410508-78410509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188932946	chr15:78410577-78410578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537675529	chr15:78410589-78410590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181546725	chr15:78410633-78410634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577278932	chr15:78410673-78410674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541169219	chr15:78410801-78410802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552945622	chr15:78410824-78410825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574521492	chr15:78410833-78410834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575948367	chr15:78410838-78410839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541706098	chr15:78410855-78410856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563621195	chr15:78410858-78410859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185804542	chr15:78410862-78410863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545987788	chr15:78410885-78410886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564165590	chr15:78410904-78410905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536253346	chr15:78410912-78410913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79520753	chr15:78410933-78410934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56911890	chr15:78410949-78410950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546743717	chr15:78410991-78410992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191405047	chr15:78411020-78411021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535951727	chr15:78411066-78411067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76837710	chr15:78411085-78411086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182615134	chr15:78411090-78411091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570333268	chr15:78411094-78411095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185903401	chr15:78411104-78411105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192034589	chr15:78411178-78411179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552732049	chr15:78411184-78411185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78899511	chr15:78411231-78411232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577955554	chr15:78411251-78411252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554961286	chr15:78411277-78411278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183118676	chr15:78411335-78411336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553086357	chr15:78411358-78411359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs8028842	chr15:78411382-78411383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187711770	chr15:78411383-78411384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs8028859	chr15:78411458-78411459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs575485059	chr15:78411459-78411460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543065131	chr15:78411484-78411485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79928360	chr15:78411494-78411495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs67000301	chr15:78411528-78411529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs564281456	chr15:78411538-78411539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112663737	chr15:78411608-78411609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78396200-78421800	Weak transcription	Right Ventricle	heart
2	chr15:78396600-78423800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:78397600-78421400	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:78398400-78423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:78398600-78413200	Weak transcription	Spleen	Spleen
6	chr15:78400000-78412800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:78400000-78422400	Weak transcription	Brain Germinal Matrix	brain
8	chr15:78400200-78414600	Weak transcription	Fetal Brain Female	brain
9	chr15:78401400-78413000	Weak transcription	Fetal Stomach	stomach
10	chr15:78401400-78414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:78403800-78412200	Weak transcription	Thymus	Thymus
12	chr15:78405600-78412800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:78405600-78413000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:78405600-78421400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:78406000-78412200	Weak transcription	Fetal Intestine Small	intestine
16	chr15:78406000-78414200	Weak transcription	Fetal Intestine Large	intestine
17	chr15:78406000-78421600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:78406000-78423000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:78406200-78412800	Weak transcription	Fetal Thymus	thymus
20	chr15:78406400-78412400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:78406400-78412400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:78406400-78412600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:78406400-78420000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:78406400-78423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:78409000-78413000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:78409000-78423000	Weak transcription	Brain Anterior Caudate	brain
27	chr15:78409600-78410400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:78410000-78410400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:78411200-78411600	Enhancers	Liver	Liver
30	chr15:78412200-78417200	Strong transcription	Thymus	Thymus
31	chr15:78412200-78419200	Strong transcription	Fetal Intestine Small	intestine
32	chr15:78412400-78413000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:78412400-78413200	Enhancers	Fetal Heart	heart
34	chr15:78412400-78413800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr15:78412600-78413600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr15:78412600-78413600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr15:78412600-78413800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr15:78412800-78413000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:78412800-78413000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:78412800-78413400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr15:78412800-78413600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr15:78412800-78413600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr15:78412800-78413600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:78412800-78413600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:78412800-78413800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr15:78412800-78413800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr15:78412800-78413800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr15:78412800-78413800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:78412800-78416000	Strong transcription	Fetal Thymus	thymus
50	chr15:78413000-78413400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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