Variant report

Variant	nsv904498
Chromosome Location	chr15:92545284-92558234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:92552941..92555827-chr15:92557594..92560539,2	MCF-7	breast:
2	chr15:92552040..92555185-chr15:92557169..92559357,3	MCF-7	breast:
3	chr15:92538879..92541331-chr15:92548247..92550624,2	MCF-7	breast:
4	chr15:92542461..92544269-chr15:92546881..92548703,2	K562	blood:
5	chr15:92552040..92555185-chr15:92557169..92559357,3	MCF-7	breast:
6	chr15:92552941..92555827-chr15:92557594..92560539,2	MCF-7	breast:

Extended variants
information (count: 561 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17644210	chr15:92545284-92545285	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139263091	chr15:92545285-92545286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560501308	chr15:92545303-92545304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532394710	chr15:92545324-92545325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534221832	chr15:92545337-92545338	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs562820335	chr15:92545347-92545348	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs77217508	chr15:92545348-92545349	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs181465719	chr15:92545395-92545396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs78476322	chr15:92545401-92545402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186940824	chr15:92545411-92545412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374087552	chr15:92545455-92545456	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12443009	chr15:92545465-92545466	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566506662	chr15:92545478-92545479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538231669	chr15:92545496-92545497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145969781	chr15:92545519-92545520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556864088	chr15:92545591-92545592	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537672835	chr15:92545593-92545594	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73532478	chr15:92545620-92545621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34684344	chr15:92545635-92545636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553779453	chr15:92545683-92545684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577196855	chr15:92545713-92545714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12899322	chr15:92545735-92545736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149661842	chr15:92545888-92545889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190778952	chr15:92545894-92545895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542450457	chr15:92545915-92545916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562309094	chr15:92545932-92545933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183306348	chr15:92545933-92545934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548095867	chr15:92545940-92545941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571038035	chr15:92545946-92545947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55708245	chr15:92546004-92546005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551856653	chr15:92546062-92546063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386786499	chr15:92546078-92546079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17695281	chr15:92546079-92546080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368475073	chr15:92546194-92546195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17695287	chr15:92546226-92546227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs186350575	chr15:92546269-92546270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533717480	chr15:92546291-92546292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554070083	chr15:92546301-92546302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577030095	chr15:92546313-92546314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563526066	chr15:92546339-92546340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530732163	chr15:92546340-92546341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539843534	chr15:92546369-92546370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376825262	chr15:92546410-92546411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12593984	chr15:92546412-92546413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs576496159	chr15:92546444-92546445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117595488	chr15:92546455-92546456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71411124	chr15:92546482-92546483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs59932205	chr15:92546483-92546484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541230117	chr15:92546493-92546494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191102182	chr15:92546494-92546495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD

Chromatin state (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92498200-92555000	Weak transcription	Gastric	stomach
2	chr15:92527400-92551400	Weak transcription	Aorta	Aorta
3	chr15:92535600-92548000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:92536000-92547400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:92536400-92548600	Weak transcription	Esophagus	oesophagus
6	chr15:92537800-92547200	Weak transcription	Small Intestine	intestine
7	chr15:92538200-92554800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr15:92543000-92546800	Weak transcription	Psoas Muscle	Psoas
9	chr15:92543000-92552400	Weak transcription	Pancreas	Pancrea
10	chr15:92543400-92545400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr15:92543600-92550800	Enhancers	Brain Substantia Nigra	brain
12	chr15:92543800-92545400	Enhancers	Brain Angular Gyrus	brain
13	chr15:92544000-92545400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:92544000-92545400	Enhancers	Brain Hippocampus Middle	brain
15	chr15:92544000-92545400	Enhancers	Lung	lung
16	chr15:92544000-92545600	Enhancers	Left Ventricle	heart
17	chr15:92544000-92545600	Enhancers	Right Atrium	heart
18	chr15:92544000-92546000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr15:92544000-92547400	Enhancers	Right Ventricle	heart
20	chr15:92544200-92546600	Weak transcription	Brain Anterior Caudate	brain
21	chr15:92544200-92547000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:92544200-92547400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:92544200-92554800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr15:92544400-92554800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:92544600-92548600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:92544800-92548200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:92544800-92548400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:92544800-92548400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:92544800-92548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:92544800-92548600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:92544800-92548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:92544800-92551200	Weak transcription	Ovary	ovary
33	chr15:92544800-92552400	Weak transcription	Spleen	Spleen
34	chr15:92544800-92554200	Weak transcription	Fetal Brain Female	brain
35	chr15:92544800-92554800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:92545000-92546400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:92545000-92546400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:92545000-92548200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:92545000-92548200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:92545000-92548400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr15:92545000-92548400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr15:92545200-92545600	Flanking Active TSS	Fetal Heart	heart
43	chr15:92545200-92546200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:92545200-92546800	Weak transcription	Fetal Brain Male	brain
45	chr15:92545400-92545600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:92545400-92546800	Weak transcription	Brain Angular Gyrus	brain
47	chr15:92545400-92546800	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:92545400-92547000	Weak transcription	Lung	lung
49	chr15:92545400-92554800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr15:92545600-92546600	Weak transcription	Left Ventricle	heart

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