Variant report

Variant	nsv466322
Chromosome Location	chr9:25904637-25934932
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	chr9:25917911-25918227	IMR90	lung:	n/a	chr9:25918064-25918073 chr9:25918062-25918073 chr9:25918062-25918075 chr9:25918064-25918075 chr9:25918062-25918075 chr9:25918064-25918073 chr9:25918064-25918073 chr9:25918064-25918073
2	CEBPB	chr9:25917894-25918212	A549	lung:	n/a	chr9:25918064-25918075 chr9:25918064-25918073 chr9:25918062-25918073 chr9:25918062-25918075 chr9:25918064-25918073 chr9:25918064-25918073 chr9:25918062-25918075 chr9:25918064-25918073
3	CEBPB	chr9:25917593-25918410	Hela-S3	cervix:	n/a	chr9:25918064-25918073 chr9:25918062-25918073 chr9:25918062-25918075 chr9:25918064-25918075 chr9:25918062-25918075 chr9:25918064-25918073 chr9:25918064-25918073 chr9:25918064-25918073
4	CEBPB	chr9:25917881-25918235	HepG2	liver:	n/a	chr9:25918064-25918073 chr9:25918062-25918073 chr9:25918062-25918075 chr9:25918064-25918075 chr9:25918062-25918075 chr9:25918064-25918073 chr9:25918064-25918073 chr9:25918064-25918073
5	CTCF	chr9:25913828-25913850	Lung_OC	lung:	n/a	n/a
6	CTCF	chr9:25909780-25909930	AG10803	skin:	n/a	n/a
7	CTCF	chr9:25917771-25917780	Hela-S3	cervix:	n/a	n/a
8	E2F4	chr9:25917549-25917825	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr9:25918738-25918934	MCF10A-Er-Src	breast:	n/a	chr9:25918780-25918789
10	EP300	chr9:25915163-25915575	SK-N-SH	brain:	n/a	n/a
11	EP300	chr9:25917586-25918422	Hela-S3	cervix:	n/a	chr9:25918063-25918077
12	EP300	chr9:25917731-25918615	SK-N-SH	brain:	n/a	chr9:25918063-25918077
13	FOS	chr9:25913914-25914097	MCF10A-Er-Src	breast:	n/a	chr9:25914002-25914011 chr9:25914004-25914011
14	FOS	chr9:25923790-25923990	HUVEC	blood vessel:	n/a	chr9:25923798-25923809
15	FOS	chr9:25917625-25918225	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr9:25913846-25914141	MCF10A-Er-Src	breast:	n/a	chr9:25914002-25914011 chr9:25914004-25914011
17	FOS	chr9:25917624-25918370	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr9:25917621-25917959	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr9:25917629-25917947	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr9:25918188-25918318	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr9:25913843-25914123	MCF10A-Er-Src	breast:	n/a	chr9:25914002-25914011 chr9:25914004-25914011
22	FOSL2	chr9:25926418-25926607	HepG2	liver:	n/a	n/a
23	FOSL2	chr9:25917872-25918447	SK-N-SH	brain:	n/a	n/a
24	FOXM1	chr9:25917813-25918413	SK-N-SH	brain:	n/a	n/a
25	GABPA	chr9:25926455-25926540	HepG2	liver:	n/a	n/a
26	GATA3	chr9:25915149-25915590	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr9:25917683-25918559	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr9:25928121-25928850	SK-N-SH	brain:	n/a	chr9:25928535-25928544 chr9:25928740-25928761
29	GATA3	chr9:25928268-25928780	SK-N-SH	brain:	n/a	chr9:25928535-25928544 chr9:25928740-25928761
30	GATA3	chr9:25917655-25918597	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr9:25915047-25915714	SK-N-SH	brain:	n/a	n/a
32	JUN	chr9:25924160-25924402	HepG2	liver:	n/a	chr9:25924234-25924247
33	JUND	chr9:25917350-25918824	Hela-S3	cervix:	n/a	n/a
34	JUND	chr9:25917814-25918506	SK-N-SH	brain:	n/a	n/a
35	JUND	chr9:25917834-25918456	SK-N-SH	brain:	n/a	n/a
36	JUND	chr9:25924067-25924384	HepG2	liver:	n/a	n/a
37	MAFF	chr9:25918067-25918145	HepG2	liver:	n/a	n/a
38	MAFK	chr9:25917719-25918580	Hela-S3	cervix:	n/a	chr9:25918178-25918192 chr9:25918180-25918191 chr9:25918179-25918190 chr9:25917722-25917733 chr9:25918073-25918089 chr9:25918180-25918191
39	MAFK	chr9:25917977-25918600	HepG2	liver:	n/a	chr9:25918178-25918192 chr9:25918180-25918191 chr9:25918179-25918190 chr9:25918073-25918089 chr9:25918180-25918191
40	MEF2A	chr9:25917915-25918616	SK-N-SH	brain:	n/a	chr9:25918330-25918341 chr9:25918328-25918343 chr9:25918328-25918342 chr9:25918327-25918342 chr9:25918327-25918343 chr9:25918326-25918341 chr9:25918326-25918343 chr9:25918328-25918343 chr9:25918329-25918340
41	MYC	chr9:25917668-25918044	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr9:25917662-25917916	MCF10A-Er-Src	breast:	n/a	n/a
43	NFIC	chr9:25917803-25918503	SK-N-SH	brain:	n/a	n/a
44	NFIC	chr9:25928170-25928752	SK-N-SH	brain:	n/a	n/a
45	NFIC	chr9:25915140-25915528	SK-N-SH	brain:	n/a	n/a
46	PBX3	chr9:25917941-25918473	SK-N-SH	brain:	n/a	n/a
47	PBX3	chr9:25926482-25926576	GM12878	blood:	n/a	n/a
48	PBX3	chr9:25915152-25915581	SK-N-SH	brain:	n/a	n/a
49	PBX3	chr9:25917834-25918472	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr9:25905326-25905386	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000270683	TF binding region

Extended variants
information (count: 591 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:591 , 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	rs836952	chr9:25904637-25904638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377280088	chr9:25904691-25904692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571430603	chr9:25904693-25904694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532435457	chr9:25904725-25904726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146561614	chr9:25904734-25904735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551040131	chr9:25904737-25904738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569380108	chr9:25904758-25904759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536851661	chr9:25904772-25904773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566204122	chr9:25904827-25904828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548643397	chr9:25904869-25904870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567131866	chr9:25904975-25904976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77290304	chr9:25904988-25904989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149706315	chr9:25904989-25904990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369478470	chr9:25904991-25904992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373668950	chr9:25904994-25904995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372649919	chr9:25914805-25914806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs118052712	chr9:25914806-25914807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565186257	chr9:25914875-25914876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577378671	chr9:25914876-25914877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544780470	chr9:25914907-25914908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563193717	chr9:25914909-25914910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7032063	chr9:25914919-25914920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548882780	chr9:25914932-25914933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560987987	chr9:25914947-25914948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370959120	chr9:25914952-25914953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181868728	chr9:25914970-25914971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76228747	chr9:25914996-25914997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10812323	chr9:25915444-25915445	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560584841	chr9:25915475-25915476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115719952	chr9:25915484-25915485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573014101	chr9:25915487-25915488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546254125	chr9:25915514-25915515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148591401	chr9:25915533-25915534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532110086	chr9:25915535-25915536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550253868	chr9:25915551-25915552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138617297	chr9:25917024-25917025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530153074	chr9:25917035-25917036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183625780	chr9:25917065-25917066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188134189	chr9:25917080-25917081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373720507	chr9:25917126-25917127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567369049	chr9:25917153-25917154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192751665	chr9:25917203-25917204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148906226	chr9:25917231-25917232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143547414	chr9:25917261-25917262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560144530	chr9:25917283-25917284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572164567	chr9:25917364-25917365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79808111	chr9:25917386-25917387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs59885701	chr9:25917428-25917429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375011060	chr9:25917432-25917433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564253916	chr9:25917447-25917448	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25904400-25905000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:25914800-25915000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:25915400-25915600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:25917000-25918800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:25917200-25918200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:25917400-25919000	Enhancers	Hela-S3	cervix
7	chr9:25917600-25918200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:25917600-25918800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:25917600-25919000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:25917600-25919400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:25917800-25918200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:25918000-25918400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:25918200-25923200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:25923200-25923600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:25923600-25926800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:25926800-25928600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:25926800-25929200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:25927000-25928000	Enhancers	Muscle Satellite Cultured Cells	--

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