Variant report

Variant	nsv887722
Chromosome Location	chr7:15064255-15105524
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	chr7:15077096-15077349	HepG2	liver:	n/a	chr7:15077196-15077207
2	CEBPB	chr7:15080351-15081311	Hela-S3	cervix:	n/a	chr7:15081129-15081142
3	CTCF	chr7:15092040-15092190	BE2_C	brain:	n/a	n/a
4	CTCF	chr7:15092160-15092310	HEK293	kidney:	n/a	n/a
5	CTCF	chr7:15092220-15092370	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr7:15093689-15093709	LNCaP	prostate:	n/a	n/a
7	CTCF	chr7:15084939-15084973	K562	blood:	n/a	n/a
8	CTCF	chr7:15096960-15097110	RPTEC	kidney:	n/a	chr7:15097001-15097010
9	CTCF	chr7:15092200-15092350	GM12872	blood:	n/a	n/a
10	EP300	chr7:15080938-15081155	Hela-S3	cervix:	n/a	chr7:15081127-15081141
11	EP300	chr7:15081540-15081977	T-47D	breast:	n/a	chr7:15081882-15081896
12	ESR1	chr7:15081575-15081929	T-47D	breast:	n/a	n/a
13	ESR1	chr7:15081560-15082053	T-47D	breast:	n/a	n/a
14	ESR1	chr7:15081560-15081976	T-47D	breast:	n/a	n/a
15	FOS	chr7:15073798-15074101	HUVEC	blood vessel:	n/a	n/a
16	FOS	chr7:15080886-15081197	HUVEC	blood vessel:	n/a	n/a
17	FOS	chr7:15081764-15082446	HUVEC	blood vessel:	n/a	n/a
18	FOXA1	chr7:15081599-15081949	T-47D	breast:	n/a	n/a
19	FOXA1	chr7:15081542-15081966	T-47D	breast:	n/a	n/a
20	FOXP2	chr7:15074425-15074737	SK-N-MC	brain:	n/a	chr7:15074500-15074512
21	GATA1	chr7:15082315-15082683	PBDEFetal	blood:	n/a	chr7:15082495-15082502 chr7:15082495-15082502 chr7:15082495-15082502 chr7:15082488-15082509 chr7:15082496-15082513
22	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
23	GATA1	chr7:15072502-15073201	PBDE	blood:	n/a	n/a
24	GATA2	chr7:15080389-15081235	HUVEC	blood vessel:	n/a	chr7:15081159-15081169
25	GATA2	chr7:15081595-15082672	HUVEC	blood vessel:	n/a	chr7:15082495-15082502 chr7:15082495-15082502 chr7:15082495-15082502 chr7:15082488-15082509 chr7:15082496-15082513
26	GATA2	chr7:15093430-15093765	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr7:15081507-15082094	T-47D	breast:	n/a	n/a
28	GATA3	chr7:15081532-15082052	T-47D	breast:	n/a	n/a
29	GATA3	chr7:15069924-15070044	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr7:15099351-15099532	SH-SY5Y	brain:	n/a	n/a
31	JUND	chr7:15081542-15082044	T-47D	breast:	n/a	n/a
32	MAFK	chr7:15084780-15084900	HepG2	liver:	n/a	chr7:15084830-15084845
33	MAFK	chr7:15080538-15080540	Hela-S3	cervix:	n/a	n/a
34	MAFK	chr7:15084780-15084937	HepG2	liver:	n/a	chr7:15084830-15084845
35	MAFK	chr7:15074529-15074745	HepG2	liver:	n/a	chr7:15074636-15074652
36	MYC	chr7:15066705-15066770	NB4	blood:	n/a	n/a
37	NRF1	chr7:15068845-15068881	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr7:15069274-15069334	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr7:15074196-15074397	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr7:15072959-15073015	Gliobla	brain:	n/a	n/a
41	POLR2A	chr7:15099989-15100189	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr7:15076166-15076241	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr7:15101551-15101707	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr7:15085280-15085385	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:15082128-15082256	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr7:15080395-15080595	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr7:15097960-15098134	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:15078310-15078416	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr7:15095254-15095363	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr7:15089341-15089541	MCF10A-Er-Src	breast:	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-AC006035.2-9	chr7:15074455-15074801	NONHSAT119273
2	lnc-AC006035.2-9	chr7:15072357-15072662	NONHSAT119273

Variant related genes	Relation type
ENSG00000227489	TF binding region

Extended variants
information (count: 1489 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1489 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2191348	chr7:15064255-15064256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565897675	chr7:15064267-15064268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190467234	chr7:15064297-15064298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75836628	chr7:15064308-15064309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2191349	chr7:15064309-15064310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
6	rs537045135	chr7:15064329-15064330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145111853	chr7:15064337-15064338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575469044	chr7:15064357-15064358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576677529	chr7:15064421-15064422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542543478	chr7:15064440-15064441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183041010	chr7:15064466-15064467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187256625	chr7:15064472-15064473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369998927	chr7:15064514-15064515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547480406	chr7:15064521-15064522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555443310	chr7:15064525-15064526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374575161	chr7:15064533-15064534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373739676	chr7:15064541-15064542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192020145	chr7:15064559-15064560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577688103	chr7:15064597-15064598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77236798	chr7:15064604-15064605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563738812	chr7:15064620-15064621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114637181	chr7:15064631-15064632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549308887	chr7:15064646-15064647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559379873	chr7:15064662-15064663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574478750	chr7:15064703-15064704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184190783	chr7:15064706-15064707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187537117	chr7:15064708-15064709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191478306	chr7:15064724-15064725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11760782	chr7:15064788-15064789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs536244116	chr7:15064842-15064843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77754316	chr7:15064846-15064847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6947283	chr7:15064857-15064858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs202047867	chr7:15064882-15064883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200393456	chr7:15064883-15064884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs66825728	chr7:15064884-15064885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67574278	chr7:15064886-15064887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398111089	chr7:15064890-15064891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4721401	chr7:15064896-15064897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546340922	chr7:15064902-15064903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374006871	chr7:15064937-15064938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538870415	chr7:15064978-15064979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6947830	chr7:15064984-15064985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
43	rs556064898	chr7:15065002-15065003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4719433	chr7:15065003-15065004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534910340	chr7:15065004-15065005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557896658	chr7:15065013-15065014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182494657	chr7:15065032-15065033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543542264	chr7:15065057-15065058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371738459	chr7:15065062-15065063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117120192	chr7:15065071-15065072	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15064200-15064400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:15064400-15072400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:15068000-15068600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr7:15070800-15071400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:15072400-15072600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:15072600-15075000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:15073600-15074600	Enhancers	HUVEC	blood vessel
8	chr7:15075000-15075200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:15075200-15075800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:15075800-15076000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:15076400-15076800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:15080400-15080600	Enhancers	Colon Smooth Muscle	Colon
13	chr7:15080400-15081800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:15080400-15082800	Enhancers	HUVEC	blood vessel
15	chr7:15080600-15082800	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:15081000-15081400	Enhancers	Rectal Smooth Muscle	rectum
17	chr7:15081400-15081800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:15081600-15082800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:15081800-15082000	Enhancers	Rectal Smooth Muscle	rectum
20	chr7:15081800-15082400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:15081800-15083200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:15082000-15083000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:15082800-15084600	Enhancers	Colon Smooth Muscle	Colon
24	chr7:15083000-15084600	Enhancers	Rectal Smooth Muscle	rectum
25	chr7:15083200-15083800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:15083600-15084000	Enhancers	Fetal Stomach	stomach
27	chr7:15083600-15084000	Enhancers	Left Ventricle	heart
28	chr7:15084600-15093600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:15086400-15087000	Enhancers	Fetal Intestine Small	intestine
30	chr7:15086600-15087000	Enhancers	Liver	Liver
31	chr7:15090200-15093400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:15092600-15096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:15093400-15093600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:15093600-15093800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:15093600-15094000	Enhancers	Colon Smooth Muscle	Colon
36	chr7:15093800-15094000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:15094000-15094400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:15094000-15096800	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:15094400-15095000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:15095000-15095400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:15095800-15097600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:15096400-15097000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:15096800-15097200	Enhancers	Fetal Intestine Large	intestine
44	chr7:15096800-15097400	Enhancers	Colon Smooth Muscle	Colon
45	chr7:15097400-15098400	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:15098400-15099200	Enhancers	Colon Smooth Muscle	Colon
47	chr7:15098600-15100000	Enhancers	Rectal Smooth Muscle	rectum
48	chr7:15099200-15100000	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:15099200-15100000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr7:15100000-15100200	Enhancers	Colon Smooth Muscle	Colon

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