Variant report

Variant	nsv1043999
Chromosome Location	chr15:53162917-53187508
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	BACH1	chr15:53172280-53172375	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr15:53186509-53186527	K562	blood:	n/a	n/a
3	CTCF	chr15:53186772-53186831	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr15:53181650-53181672	GM20000	blood:	n/a	n/a
5	E2F4	chr15:53170874-53170962	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr15:53165782-53166352	MCF10A-Er-Src	breast:	n/a	chr15:53166185-53166193
7	FOS	chr15:53175176-53175317	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr15:53166081-53166352	MCF10A-Er-Src	breast:	n/a	chr15:53166185-53166193
9	FOS	chr15:53175174-53175255	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr15:53166029-53166352	MCF10A-Er-Src	breast:	n/a	chr15:53166185-53166193
11	GATA3	chr15:53184115-53184304	SH-SY5Y	brain:	n/a	n/a
12	IRF1	chr15:53182027-53182062	K562	blood:	n/a	n/a
13	JUND	chr15:53169263-53169463	HepG2	liver:	n/a	chr15:53169366-53169375 chr15:53169402-53169409
14	MAFK	chr15:53174817-53174843	HepG2	liver:	n/a	n/a
15	MAFK	chr15:53173224-53173227	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr15:53167698-53167897	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:53166089-53166436	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr15:53174961-53175120	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr15:53171109-53171269	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr15:53180287-53180487	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr15:53182846-53183025	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr15:53166342-53166435	MCF10A-Er-Src	breast:	n/a	n/a
23	REST	chr15:53183138-53183558	MCF-7	breast:	n/a	chr15:53183332-53183341
24	STAT3	chr15:53165855-53166345	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr15:53165745-53166408	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr15:53166102-53166307	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr15:53165866-53166339	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:53184740..53186882-chr15:53187032..53188807,2	MCF-7	breast:
2	chr15:53184740..53186882-chr15:53187032..53188807,2	MCF-7	breast:
3	chr15:53168390..53171371-chr15:53174252..53176521,2	MCF-7	breast:
4	chr1:245364623..245365523-chr15:53182428..53183156,2	MCF-7	breast:
5	chr15:53168390..53171371-chr15:53174252..53176521,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAPK6-18	chr15:53171347-53171611	l_1157_chr15:53136239-53171611_testes

Variant related genes	Relation type
RPSAP55	TF binding region

Extended variants
information (count: 954 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537420721	chr15:53163600-53163601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80243702	chr15:53163603-53163604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147886733	chr15:53163627-53163628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185758959	chr15:53163660-53163661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35855459	chr15:53163706-53163707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7161874	chr15:53163740-53163741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75446054	chr15:53163751-53163752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540738914	chr15:53163758-53163759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7161750	chr15:53163782-53163783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574009358	chr15:53163784-53163785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201265465	chr15:53163838-53163839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544277471	chr15:53163886-53163887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374252026	chr15:53163892-53163893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2456518	chr15:53163906-53163907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533067682	chr15:53163943-53163944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141524528	chr15:53163944-53163945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114699606	chr15:53163946-53163947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188611023	chr15:53163990-53163991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76178798	chr15:53164013-53164014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371030964	chr15:53164030-53164031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs36051788	chr15:53164043-53164044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567246231	chr15:53164050-53164051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531374721	chr15:53164080-53164081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549808530	chr15:53164082-53164083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs935194	chr15:53164086-53164087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540156595	chr15:53164129-53164130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367765302	chr15:53164162-53164163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533912891	chr15:53164195-53164196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567090314	chr15:53164196-53164197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534111577	chr15:53164210-53164211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529829657	chr15:53164215-53164216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574041385	chr15:53164250-53164251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182189387	chr15:53164264-53164265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556142336	chr15:53164266-53164267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577588712	chr15:53164277-53164278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147015258	chr15:53164282-53164283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186717226	chr15:53164352-53164353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1814459	chr15:53164357-53164358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11635348	chr15:53164394-53164395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529142904	chr15:53164420-53164421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs731607	chr15:53164448-53164449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74404965	chr15:53164476-53164477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58206731	chr15:53164486-53164487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201163123	chr15:53164497-53164498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191670561	chr15:53164514-53164515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2414184	chr15:53164558-53164559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs5812634	chr15:53164563-53164564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3080110	chr15:53164564-53164565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532132626	chr15:53164623-53164624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552133869	chr15:53164641-53164642	Weak 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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53163600-53163800	Enhancers	Pancreas	Pancrea
2	chr15:53163800-53164800	Weak transcription	Pancreas	Pancrea
3	chr15:53164800-53165800	Enhancers	Pancreas	Pancrea
4	chr15:53165400-53165600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:53165800-53183200	Weak transcription	Pancreas	Pancrea
6	chr15:53168000-53172800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:53168400-53172200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:53168800-53169000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:53169000-53170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:53170600-53171200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:53170600-53172400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:53170600-53172600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr15:53171200-53172200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:53172000-53172400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr15:53172000-53172600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr15:53172000-53172600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:53172200-53172400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:53172200-53172600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr15:53172200-53172600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:53172200-53172600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:53172200-53172800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr15:53172200-53172800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:53172600-53173200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:53183200-53183600	Enhancers	Pancreas	Pancrea
25	chr15:53183600-53185600	Weak transcription	Pancreas	Pancrea
26	chr15:53185600-53186000	Enhancers	Pancreas	Pancrea

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