Variant report

Variant	nsv606291
Chromosome Location	chr7:15087599-15121951
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	chr7:15107141-15107395	HepG2	liver:	n/a	chr7:15107268-15107279
3	CEBPB	chr7:15107126-15107433	IMR90	lung:	n/a	chr7:15107268-15107279
4	CEBPB	chr7:15107146-15107394	A549	lung:	n/a	chr7:15107268-15107279
5	CTCF	chr7:15092040-15092190	BE2_C	brain:	n/a	n/a
6	CTCF	chr7:15092160-15092310	HEK293	kidney:	n/a	n/a
7	CTCF	chr7:15096960-15097110	RPTEC	kidney:	n/a	chr7:15097001-15097010
8	CTCF	chr7:15093689-15093709	LNCaP	prostate:	n/a	n/a
9	CTCF	chr7:15092220-15092370	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr7:15092200-15092350	GM12872	blood:	n/a	n/a
11	EBF1	chr7:15117406-15117602	GM12878	blood:	n/a	chr7:15117516-15117527
12	EBF1	chr7:15105605-15105662	GM12878	blood:	n/a	n/a
13	EBF1	chr7:15121380-15121387	GM12878	blood:	n/a	n/a
14	EBF1	chr7:15117249-15117908	GM12878	blood:	n/a	chr7:15117516-15117527
15	EP300	chr7:15117442-15117591	GM12878	blood:	n/a	n/a
16	EP300	chr7:15109887-15109931	GM12878	blood:	n/a	n/a
17	EP300	chr7:15107995-15108299	SK-N-SH_RA	brain:	n/a	n/a
18	FOS	chr7:15119547-15119750	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr7:15119590-15119810	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL2	chr7:15107873-15108391	SK-N-SH	brain:	n/a	n/a
21	GATA2	chr7:15093430-15093765	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr7:15110960-15111068	SH-SY5Y	brain:	n/a	chr7:15110966-15110973
23	GATA3	chr7:15105944-15106056	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr7:15106999-15107562	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr7:15099351-15099532	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr7:15107847-15108462	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr7:15107970-15108447	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr7:15107010-15107553	SK-N-SH	brain:	n/a	n/a
29	JUN	chr7:15119559-15119824	HepG2	liver:	n/a	n/a
30	JUND	chr7:15119548-15119883	HepG2	liver:	n/a	chr7:15119713-15119724
31	JUND	chr7:15119443-15120056	SK-N-SH	brain:	n/a	chr7:15119713-15119724
32	JUND	chr7:15107875-15108322	SK-N-SH	brain:	n/a	n/a
33	MAFF	chr7:15121526-15121904	HepG2	liver:	n/a	chr7:15121713-15121731 chr7:15121712-15121726
34	MAFF	chr7:15121542-15121897	K562	blood:	n/a	chr7:15121713-15121731 chr7:15121712-15121726
35	MAFK	chr7:15121356-15121985	GM12878	blood:	n/a	chr7:15121709-15121729 chr7:15121717-15121731 chr7:15121714-15121730 chr7:15121714-15121729 chr7:15121712-15121726 chr7:15121711-15121727
36	MAFK	chr7:15121533-15121906	HepG2	liver:	n/a	chr7:15121709-15121729 chr7:15121717-15121731 chr7:15121714-15121730 chr7:15121714-15121729 chr7:15121712-15121726 chr7:15121711-15121727
37	MAFK	chr7:15121531-15121907	HepG2	liver:	n/a	chr7:15121709-15121729 chr7:15121717-15121731 chr7:15121714-15121730 chr7:15121714-15121729 chr7:15121712-15121726 chr7:15121711-15121727
38	MAFK	chr7:15115541-15115583	HepG2	liver:	n/a	n/a
39	MAFK	chr7:15121534-15121905	IMR90	lung:	n/a	chr7:15121709-15121729 chr7:15121717-15121731 chr7:15121714-15121730 chr7:15121714-15121729 chr7:15121712-15121726 chr7:15121711-15121727
40	MAFK	chr7:15121544-15121893	H1-hESC	embryonic stem cell:	n/a	chr7:15121709-15121729 chr7:15121717-15121731 chr7:15121714-15121730 chr7:15121714-15121729 chr7:15121712-15121726 chr7:15121711-15121727
41	MAFK	chr7:15121542-15121906	K562	blood:	n/a	chr7:15121709-15121729 chr7:15121717-15121731 chr7:15121714-15121730 chr7:15121714-15121729 chr7:15121712-15121726 chr7:15121711-15121727
42	MAFK	chr7:15121556-15121893	Hela-S3	cervix:	n/a	chr7:15121709-15121729 chr7:15121717-15121731 chr7:15121714-15121730 chr7:15121714-15121729 chr7:15121712-15121726 chr7:15121711-15121727
43	MYC	chr7:15114268-15114385	H1-hESC	embryonic stem cell:	n/a	n/a
44	PBX3	chr7:15108008-15108404	SK-N-SH	brain:	n/a	n/a
45	PBX3	chr7:15107086-15107545	SK-N-SH	brain:	n/a	n/a
46	PBX3	chr7:15107908-15108495	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr7:15097960-15098134	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:15101551-15101707	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr7:15095254-15095363	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr7:15107292-15107457	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-4	chr7:15107930-15108276	XLOC_005990
2	lnc-AC006035.2-4	chr7:15105832-15106137	XLOC_005990

Variant related genes	Relation type
ENSG00000227489	TF binding region

Extended variants
information (count: 741 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:741 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs218085	chr7:15087599-15087600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538390047	chr7:15087642-15087643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558191316	chr7:15087676-15087677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575200052	chr7:15087722-15087723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537406492	chr7:15087730-15087731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554532112	chr7:15087743-15087744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573985770	chr7:15087744-15087745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148426445	chr7:15087746-15087747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543337191	chr7:15087767-15087768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187253890	chr7:15087810-15087811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190938104	chr7:15087811-15087812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371985135	chr7:15087826-15087827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570709800	chr7:15087847-15087848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372268343	chr7:15087848-15087849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573434012	chr7:15087868-15087869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545521333	chr7:15087875-15087876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542990573	chr7:15087912-15087913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565349101	chr7:15087916-15087917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142634018	chr7:15087935-15087936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544316547	chr7:15087964-15087965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116933258	chr7:15087976-15087977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373243574	chr7:15087996-15087997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375345675	chr7:15088028-15088029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572002040	chr7:15088072-15088073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150977686	chr7:15088089-15088090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537404967	chr7:15088098-15088099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557411869	chr7:15088128-15088129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546482511	chr7:15088129-15088130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566341474	chr7:15088145-15088146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574134041	chr7:15088156-15088157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551877733	chr7:15088173-15088174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113882549	chr7:15088182-15088183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537923308	chr7:15088185-15088186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554312378	chr7:15088188-15088189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181988329	chr7:15088201-15088202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543116085	chr7:15088215-15088216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536954693	chr7:15088236-15088237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553656177	chr7:15088262-15088263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376183133	chr7:15088280-15088281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573498580	chr7:15088287-15088288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369106449	chr7:15088312-15088313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184990185	chr7:15088358-15088359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561836899	chr7:15088373-15088374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559092373	chr7:15088411-15088412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575677993	chr7:15088456-15088457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544689413	chr7:15088480-15088481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189896337	chr7:15088502-15088503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577652419	chr7:15088526-15088527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371448388	chr7:15088535-15088536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559989853	chr7:15088564-15088565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15084600-15093600	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:15090200-15093400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:15092600-15096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:15093400-15093600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:15093600-15093800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:15093600-15094000	Enhancers	Colon Smooth Muscle	Colon
7	chr7:15093800-15094000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:15094000-15094400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:15094000-15096800	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:15094400-15095000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:15095000-15095400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:15095800-15097600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:15096400-15097000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:15096800-15097200	Enhancers	Fetal Intestine Large	intestine
15	chr7:15096800-15097400	Enhancers	Colon Smooth Muscle	Colon
16	chr7:15097400-15098400	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:15098400-15099200	Enhancers	Colon Smooth Muscle	Colon
18	chr7:15098600-15100000	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:15099200-15100000	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:15099200-15100000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:15100000-15100200	Enhancers	Colon Smooth Muscle	Colon
22	chr7:15105600-15106000	Active TSS	Fetal Intestine Large	intestine
23	chr7:15112800-15113400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:15113200-15113800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:15120400-15121000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:15121000-15122200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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