Variant report

Variant	nsv892696
Chromosome Location	chr9:18653773-18663543
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	BRCA1	chr9:18658837-18659489	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr9:18658575-18659425	IMR90	lung:	n/a	chr9:18659245-18659262
3	CEBPB	chr9:18658554-18659633	Hela-S3	cervix:	n/a	chr9:18659245-18659262
4	CHD2	chr9:18662583-18662584	Hela-S3	cervix:	n/a	n/a
5	EP300	chr9:18658872-18659045	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr9:18658562-18659352	SK-N-SH	brain:	n/a	chr9:18659249-18659257 chr9:18659288-18659298
7	EP300	chr9:18658741-18659475	Hela-S3	cervix:	n/a	chr9:18659249-18659257 chr9:18659288-18659298
8	EP300	chr9:18658553-18659419	SK-N-SH	brain:	n/a	chr9:18659249-18659257 chr9:18659288-18659298
9	EP300	chr9:18661592-18661951	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr9:18661573-18661993	SK-N-SH_RA	brain:	n/a	n/a
11	FOS	chr9:18658785-18659434	MCF10A-Er-Src	breast:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
12	FOS	chr9:18658724-18659276	MCF10A-Er-Src	breast:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
13	FOS	chr9:18658837-18659174	MCF10A-Er-Src	breast:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
14	FOS	chr9:18658824-18659295	MCF10A-Er-Src	breast:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
15	FOSL2	chr9:18658666-18659277	SK-N-SH	brain:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
16	FOXM1	chr9:18658591-18659398	SK-N-SH	brain:	n/a	n/a
17	GATA2	chr9:18662372-18662585	SH-SY5Y	brain:	n/a	chr9:18662437-18662458
18	GATA2	chr9:18658681-18659160	HUVEC	blood vessel:	n/a	n/a
19	GATA3	chr9:18654542-18654725	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr9:18662057-18662798	SK-N-SH	brain:	n/a	chr9:18662437-18662458
21	GATA3	chr9:18662423-18662626	SH-SY5Y	brain:	n/a	chr9:18662437-18662458
22	GATA3	chr9:18662121-18662844	SK-N-SH	brain:	n/a	chr9:18662437-18662458
23	GATA3	chr9:18658830-18659245	MCF-7	breast:	n/a	n/a
24	GATA3	chr9:18658349-18659446	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr9:18658847-18659123	T-47D	breast:	n/a	n/a
26	GATA3	chr9:18658489-18659592	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr9:18658789-18659064	T-47D	breast:	n/a	n/a
28	IRF1	chr9:18663123-18663124	K562	blood:	n/a	n/a
29	JUN	chr9:18658758-18659446	Hela-S3	cervix:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
30	JUN	chr9:18658842-18659171	HUVEC	blood vessel:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
31	JUND	chr9:18658646-18659491	Hela-S3	cervix:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
32	JUND	chr9:18658682-18659328	SK-N-SH	brain:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
33	JUND	chr9:18658670-18659333	SK-N-SH	brain:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
34	MAFF	chr9:18662918-18663119	HepG2	liver:	n/a	n/a
35	MAFK	chr9:18662937-18663139	HepG2	liver:	n/a	chr9:18663017-18663034
36	MAFK	chr9:18662923-18663200	HepG2	liver:	n/a	chr9:18663017-18663034
37	MYC	chr9:18658826-18659337	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr9:18658860-18659227	MCF10A-Er-Src	breast:	n/a	n/a
39	NFIC	chr9:18658648-18659265	ECC-1	luminal epithelium:	n/a	n/a
40	NFIC	chr9:18658547-18659443	SK-N-SH	brain:	n/a	n/a
41	NFIC	chr9:18658753-18659249	SK-N-SH	brain:	n/a	n/a
42	NFYA	chr9:18660431-18660531	GM12878	blood:	n/a	n/a
43	PBX3	chr9:18662239-18662777	SK-N-SH	brain:	n/a	n/a
44	PBX3	chr9:18662233-18662730	SK-N-SH	brain:	n/a	n/a
45	PBX3	chr9:18658666-18659292	SK-N-SH	brain:	n/a	n/a
46	PBX3	chr9:18658705-18659184	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr9:18658831-18659185	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr9:18662297-18662633	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr9:18658904-18659260	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr9:18654867-18654952	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18662167..18665769-chr9:18669383..18672936,3	MCF-7	breast:

Variant related genes	Relation type
ADAMTSL1	TF binding region

Extended variants
information (count: 470 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs776782	chr9:18653773-18653774	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143591021	chr9:18653783-18653784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369850814	chr9:18653787-18653788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112176455	chr9:18653796-18653797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533039707	chr9:18653802-18653803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545056242	chr9:18653815-18653816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560181366	chr9:18653898-18653899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7850813	chr9:18653899-18653900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534373795	chr9:18653914-18653915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116953080	chr9:18653944-18653945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567409315	chr9:18653971-18653972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7850641	chr9:18653977-18653978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531551084	chr9:18653980-18653981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549686268	chr9:18653990-18653991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7850738	chr9:18653991-18653992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148505778	chr9:18653997-18653998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142729499	chr9:18654055-18654056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566529548	chr9:18654071-18654072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77290043	chr9:18654081-18654082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556039834	chr9:18654135-18654136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574221593	chr9:18654144-18654145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544819498	chr9:18654146-18654147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200226218	chr9:18654157-18654158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs776781	chr9:18654183-18654184	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575013557	chr9:18654184-18654185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545122522	chr9:18654199-18654200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35743622	chr9:18654208-18654209	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181464730	chr9:18654241-18654242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115605884	chr9:18654243-18654244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186574153	chr9:18654250-18654251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34005652	chr9:18654252-18654253	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531489082	chr9:18654258-18654259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540414171	chr9:18654269-18654270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114097195	chr9:18654310-18654311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571103508	chr9:18654319-18654320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535145310	chr9:18654322-18654323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10511661	chr9:18654351-18654352	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189837406	chr9:18654390-18654391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74704780	chr9:18654414-18654415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560745116	chr9:18654420-18654421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538603719	chr9:18654433-18654434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35899945	chr9:18654435-18654436	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10811006	chr9:18654453-18654454	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567983238	chr9:18654516-18654517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75081704	chr9:18654606-18654607	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs556844609	chr9:18654610-18654611	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs578222128	chr9:18654644-18654645	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539196915	chr9:18654650-18654651	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs553923850	chr9:18654689-18654690	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs572020222	chr9:18654690-18654691	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	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
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
Chronic myeloid leukemia	21384125	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
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18631000-18666400	Weak transcription	Aorta	Aorta
2	chr9:18637000-18666400	Weak transcription	HSMMtube	muscle
3	chr9:18639400-18655200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:18639600-18658200	Weak transcription	NHLF	lung
5	chr9:18643600-18658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:18648200-18683200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:18649400-18658200	Weak transcription	HUVEC	blood vessel
8	chr9:18650000-18658400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:18650400-18654800	Weak transcription	Fetal Stomach	stomach
10	chr9:18650600-18654800	Strong transcription	NHDF-Ad	bronchial
11	chr9:18650600-18655600	Strong transcription	HSMM	muscle
12	chr9:18650600-18655600	Strong transcription	NH-A	brain
13	chr9:18651400-18654800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:18651600-18664800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:18652800-18655000	Strong transcription	Osteobl	bone
16	chr9:18653400-18654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:18653400-18657400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:18654800-18655000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:18654800-18655000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:18654800-18655000	Enhancers	Fetal Muscle Leg	muscle
21	chr9:18654800-18655400	Enhancers	Fetal Stomach	stomach
22	chr9:18654800-18655600	Genic enhancers	NHDF-Ad	bronchial
23	chr9:18654800-18656000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr9:18655000-18655200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:18655000-18661000	Genic enhancers	Osteobl	bone
26	chr9:18655000-18661600	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:18655200-18656000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:18655200-18657400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:18655400-18657400	Weak transcription	Fetal Stomach	stomach
30	chr9:18655600-18656400	Weak transcription	HSMM	muscle
31	chr9:18655600-18657400	Weak transcription	NH-A	brain
32	chr9:18655600-18657400	Weak transcription	NHDF-Ad	bronchial
33	chr9:18656000-18656800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:18656000-18658200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:18656400-18658200	Strong transcription	HSMM	muscle
36	chr9:18656800-18658000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr9:18657000-18658800	Weak transcription	Adipose Nuclei	Adipose
38	chr9:18657400-18657600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:18657400-18657600	ZNF genes & repeats	Fetal Stomach	stomach
40	chr9:18657400-18658000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:18657400-18658000	Strong transcription	NH-A	brain
42	chr9:18657400-18658200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:18657400-18660400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr9:18657400-18661600	Genic enhancers	NHDF-Ad	bronchial
45	chr9:18657600-18674400	Weak transcription	Fetal Stomach	stomach
46	chr9:18658000-18658200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr9:18658000-18658200	Weak transcription	NH-A	brain
48	chr9:18658000-18662000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:18658200-18658400	Enhancers	Placenta	Placenta
50	chr9:18658200-18658600	Enhancers	Muscle Satellite Cultured Cells	--

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