Variant report

Variant	nsv606287
Chromosome Location	chr7:15063085-15121951
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	CEBPB	chr7:15107136-15107410	Hela-S3	cervix:	n/a	chr7:15107268-15107279
2	CEBPB	chr7:15107126-15107433	IMR90	lung:	n/a	chr7:15107268-15107279
3	CEBPB	chr7:15077096-15077349	HepG2	liver:	n/a	chr7:15077196-15077207
4	CEBPB	chr7:15107146-15107394	A549	lung:	n/a	chr7:15107268-15107279
5	CEBPB	chr7:15080351-15081311	Hela-S3	cervix:	n/a	chr7:15081129-15081142
6	CEBPB	chr7:15107141-15107395	HepG2	liver:	n/a	chr7:15107268-15107279
7	CTCF	chr7:15092040-15092190	BE2_C	brain:	n/a	n/a
8	CTCF	chr7:15084939-15084973	K562	blood:	n/a	n/a
9	CTCF	chr7:15096960-15097110	RPTEC	kidney:	n/a	chr7:15097001-15097010
10	CTCF	chr7:15092160-15092310	HEK293	kidney:	n/a	n/a
11	CTCF	chr7:15092200-15092350	GM12872	blood:	n/a	n/a
12	CTCF	chr7:15093689-15093709	LNCaP	prostate:	n/a	n/a
13	CTCF	chr7:15092220-15092370	HBMEC	blood vessel:	n/a	n/a
14	EBF1	chr7:15121380-15121387	GM12878	blood:	n/a	n/a
15	EBF1	chr7:15117406-15117602	GM12878	blood:	n/a	chr7:15117516-15117527
16	EBF1	chr7:15117249-15117908	GM12878	blood:	n/a	chr7:15117516-15117527
17	EBF1	chr7:15105605-15105662	GM12878	blood:	n/a	n/a
18	EP300	chr7:15117442-15117591	GM12878	blood:	n/a	n/a
19	EP300	chr7:15081540-15081977	T-47D	breast:	n/a	chr7:15081882-15081896
20	EP300	chr7:15109887-15109931	GM12878	blood:	n/a	n/a
21	EP300	chr7:15080938-15081155	Hela-S3	cervix:	n/a	chr7:15081127-15081141
22	EP300	chr7:15107995-15108299	SK-N-SH_RA	brain:	n/a	n/a
23	ESR1	chr7:15081575-15081929	T-47D	breast:	n/a	n/a
24	ESR1	chr7:15081560-15081976	T-47D	breast:	n/a	n/a
25	ESR1	chr7:15081560-15082053	T-47D	breast:	n/a	n/a
26	FOS	chr7:15119590-15119810	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr7:15081764-15082446	HUVEC	blood vessel:	n/a	n/a
28	FOS	chr7:15080886-15081197	HUVEC	blood vessel:	n/a	n/a
29	FOS	chr7:15073798-15074101	HUVEC	blood vessel:	n/a	n/a
30	FOS	chr7:15119547-15119750	MCF10A-Er-Src	breast:	n/a	n/a
31	FOSL2	chr7:15107873-15108391	SK-N-SH	brain:	n/a	n/a
32	FOXA1	chr7:15081599-15081949	T-47D	breast:	n/a	n/a
33	FOXA1	chr7:15081542-15081966	T-47D	breast:	n/a	n/a
34	FOXP2	chr7:15074425-15074737	SK-N-MC	brain:	n/a	chr7:15074500-15074512
35	GATA1	chr7:15072502-15073201	PBDE	blood:	n/a	n/a
36	GATA1	chr7:15082315-15082683	PBDEFetal	blood:	n/a	chr7:15082495-15082502 chr7:15082495-15082502 chr7:15082495-15082502 chr7:15082488-15082509 chr7:15082496-15082513
37	GATA1	chr7:15081138-15083382	PBDE	blood:	n/a	chr7:15082495-15082502 chr7:15082495-15082502 chr7:15082495-15082502 chr7:15081159-15081169 chr7:15082488-15082509 chr7:15082496-15082513
38	GATA2	chr7:15093430-15093765	SH-SY5Y	brain:	n/a	n/a
39	GATA2	chr7:15081595-15082672	HUVEC	blood vessel:	n/a	chr7:15082495-15082502 chr7:15082495-15082502 chr7:15082495-15082502 chr7:15082488-15082509 chr7:15082496-15082513
40	GATA2	chr7:15080389-15081235	HUVEC	blood vessel:	n/a	chr7:15081159-15081169
41	GATA3	chr7:15107010-15107553	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr7:15081507-15082094	T-47D	breast:	n/a	n/a
43	GATA3	chr7:15081532-15082052	T-47D	breast:	n/a	n/a
44	GATA3	chr7:15107847-15108462	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr7:15069924-15070044	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr7:15110960-15111068	SH-SY5Y	brain:	n/a	chr7:15110966-15110973
47	GATA3	chr7:15107970-15108447	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr7:15099351-15099532	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr7:15105944-15106056	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr7:15106999-15107562	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:15058053..15060763-chr7:15070842..15072885,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-4	chr7:15105832-15106137	XLOC_005990
2	lnc-AC006035.2-9	chr7:15074455-15074801	NONHSAT119273
3	lnc-AC006035.2-9	chr7:15072357-15072662	NONHSAT119273
4	lnc-AC006035.2-4	chr7:15107930-15108276	XLOC_005990

Variant related genes	Relation type
ENSG00000227489	TF binding region

Extended variants
information (count: 1706 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1706 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7798129	chr7:15063085-15063086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139704156	chr7:15063089-15063090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566599549	chr7:15063099-15063100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145294681	chr7:15063103-15063104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147628739	chr7:15063128-15063129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568529989	chr7:15063145-15063146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10253987	chr7:15063159-15063160	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190402681	chr7:15063211-15063212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570435274	chr7:15063212-15063213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539313414	chr7:15063247-15063248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117927702	chr7:15063276-15063277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73681314	chr7:15063295-15063296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548914740	chr7:15063298-15063299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78123657	chr7:15063308-15063309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555180500	chr7:15063362-15063363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142254558	chr7:15063363-15063364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80005921	chr7:15063379-15063380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180778472	chr7:15063393-15063394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10487796	chr7:15063430-15063431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577699232	chr7:15063469-15063470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376177794	chr7:15063476-15063477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151253925	chr7:15063517-15063518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10228066	chr7:15063569-15063570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185886691	chr7:15063594-15063595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531849319	chr7:15063612-15063613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542365896	chr7:15063620-15063621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562042742	chr7:15063650-15063651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567876968	chr7:15063652-15063653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111298656	chr7:15063667-15063668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533755669	chr7:15063674-15063675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74431681	chr7:15063681-15063682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533133813	chr7:15063685-15063686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189566899	chr7:15063758-15063759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150438632	chr7:15063767-15063768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374917243	chr7:15063822-15063823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10244051	chr7:15063833-15063834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
37	rs562262046	chr7:15063877-15063878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10257681	chr7:15063900-15063901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10950550	chr7:15063923-15063924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10228456	chr7:15063926-15063927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10228561	chr7:15063961-15063962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181269173	chr7:15063986-15063987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138406450	chr7:15063987-15063988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185846379	chr7:15063999-15064000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576627265	chr7:15064022-15064023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542077223	chr7:15064038-15064039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562275125	chr7:15064049-15064050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141374988	chr7:15064055-15064056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12112482	chr7:15064101-15064102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564236076	chr7:15064127-15064128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15058000-15064200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:15063000-15063800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:15064200-15064400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:15064400-15072400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:15068000-15068600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr7:15070800-15071400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:15072400-15072600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:15072600-15075000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:15073600-15074600	Enhancers	HUVEC	blood vessel
10	chr7:15075000-15075200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:15075200-15075800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:15075800-15076000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:15076400-15076800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:15080400-15080600	Enhancers	Colon Smooth Muscle	Colon
15	chr7:15080400-15081800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:15080400-15082800	Enhancers	HUVEC	blood vessel
17	chr7:15080600-15082800	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:15081000-15081400	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:15081400-15081800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:15081600-15082800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:15081800-15082000	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:15081800-15082400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:15081800-15083200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:15082000-15083000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:15082800-15084600	Enhancers	Colon Smooth Muscle	Colon
26	chr7:15083000-15084600	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:15083200-15083800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:15083600-15084000	Enhancers	Fetal Stomach	stomach
29	chr7:15083600-15084000	Enhancers	Left Ventricle	heart
30	chr7:15084600-15093600	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:15086400-15087000	Enhancers	Fetal Intestine Small	intestine
32	chr7:15086600-15087000	Enhancers	Liver	Liver
33	chr7:15090200-15093400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:15092600-15096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:15093400-15093600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:15093600-15093800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:15093600-15094000	Enhancers	Colon Smooth Muscle	Colon
38	chr7:15093800-15094000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:15094000-15094400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:15094000-15096800	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:15094400-15095000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:15095000-15095400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:15095800-15097600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:15096400-15097000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:15096800-15097200	Enhancers	Fetal Intestine Large	intestine
46	chr7:15096800-15097400	Enhancers	Colon Smooth Muscle	Colon
47	chr7:15097400-15098400	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:15098400-15099200	Enhancers	Colon Smooth Muscle	Colon
49	chr7:15098600-15100000	Enhancers	Rectal Smooth Muscle	rectum
50	chr7:15099200-15100000	Weak transcription	Colon Smooth Muscle	Colon

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