Variant report

Variant	nsv466281
Chromosome Location	chr9:18651444-18663543
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	chr9:18658554-18659633	Hela-S3	cervix:	n/a	chr9:18659245-18659262
3	CEBPB	chr9:18658575-18659425	IMR90	lung:	n/a	chr9:18659245-18659262
4	CHD2	chr9:18662583-18662584	Hela-S3	cervix:	n/a	n/a
5	EP300	chr9:18661573-18661993	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	chr9:18658872-18659045	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr9:18658741-18659475	Hela-S3	cervix:	n/a	chr9:18659249-18659257 chr9:18659288-18659298
9	EP300	chr9:18658553-18659419	SK-N-SH	brain:	n/a	chr9:18659249-18659257 chr9:18659288-18659298
10	EP300	chr9:18661592-18661951	SK-N-SH_RA	brain:	n/a	n/a
11	FOS	chr9:18658824-18659295	MCF10A-Er-Src	breast:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
12	FOS	chr9:18658785-18659434	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	chr9:18658724-18659276	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	chr9:18658681-18659160	HUVEC	blood vessel:	n/a	n/a
18	GATA2	chr9:18662372-18662585	SH-SY5Y	brain:	n/a	chr9:18662437-18662458
19	GATA3	chr9:18662423-18662626	SH-SY5Y	brain:	n/a	chr9:18662437-18662458
20	GATA3	chr9:18658847-18659123	T-47D	breast:	n/a	n/a
21	GATA3	chr9:18658789-18659064	T-47D	breast:	n/a	n/a
22	GATA3	chr9:18654542-18654725	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr9:18662121-18662844	SK-N-SH	brain:	n/a	chr9:18662437-18662458
24	GATA3	chr9:18662057-18662798	SK-N-SH	brain:	n/a	chr9:18662437-18662458
25	GATA3	chr9:18658830-18659245	MCF-7	breast:	n/a	n/a
26	GATA3	chr9:18658349-18659446	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr9:18658489-18659592	SK-N-SH	brain:	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	chr9:18658670-18659333	SK-N-SH	brain:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
33	JUND	chr9:18658682-18659328	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	chr9:18658860-18659227	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr9:18658826-18659337	MCF10A-Er-Src	breast:	n/a	n/a
39	NFIC	chr9:18658753-18659249	SK-N-SH	brain:	n/a	n/a
40	NFIC	chr9:18658547-18659443	SK-N-SH	brain:	n/a	n/a
41	NFIC	chr9:18658648-18659265	ECC-1	luminal epithelium:	n/a	n/a
42	NFYA	chr9:18660431-18660531	GM12878	blood:	n/a	n/a
43	NRF1	chr9:18652902-18652979	GM12878	blood:	n/a	n/a
44	PBX3	chr9:18662233-18662730	SK-N-SH	brain:	n/a	n/a
45	PBX3	chr9:18658705-18659184	SK-N-SH	brain:	n/a	n/a
46	PBX3	chr9:18662239-18662777	SK-N-SH	brain:	n/a	n/a
47	PBX3	chr9:18658666-18659292	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr9:18658904-18659260	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr9:18662297-18662633	SK-N-SH	brain:	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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRAGA-3	chr9:18651145-18651448	NONHSAT130312

Variant related genes	Relation type
ADAMTSL1	TF binding region

Extended variants
information (count: 602 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs776785	chr9:18651444-18651445	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548803717	chr9:18651474-18651475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4977511	chr9:18651502-18651503	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537606256	chr9:18651508-18651509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558379392	chr9:18651526-18651527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576495957	chr9:18651530-18651531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187943157	chr9:18651602-18651603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145030594	chr9:18651609-18651610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574428819	chr9:18651614-18651615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114873595	chr9:18651626-18651627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189715385	chr9:18651637-18651638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573574935	chr9:18651641-18651642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182373974	chr9:18651666-18651667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541036944	chr9:18651667-18651668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371783260	chr9:18651674-18651675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545947224	chr9:18651711-18651712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565397922	chr9:18651713-18651714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187086674	chr9:18651716-18651717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559050955	chr9:18651750-18651751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116651643	chr9:18651753-18651754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559773004	chr9:18651790-18651791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375807781	chr9:18651809-18651810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149082019	chr9:18651815-18651816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143094329	chr9:18651838-18651839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138707529	chr9:18651842-18651843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192776002	chr9:18651871-18651872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145853273	chr9:18651894-18651895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146119076	chr9:18651895-18651896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183617315	chr9:18651896-18651897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5896792	chr9:18651899-18651900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373374729	chr9:18651907-18651908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376614958	chr9:18651908-18651909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71333057	chr9:18651923-18651924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1999489	chr9:18651931-18651932	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376479392	chr9:18651965-18651966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571102924	chr9:18651995-18651996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570241662	chr9:18652025-18652026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534401614	chr9:18652026-18652027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552593297	chr9:18652028-18652029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371447912	chr9:18652045-18652046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567717385	chr9:18652054-18652055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59589985	chr9:18652065-18652066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188559883	chr9:18652136-18652137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201488020	chr9:18652156-18652157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556988616	chr9:18652162-18652163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199607898	chr9:18652185-18652186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575465334	chr9:18652197-18652198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545704765	chr9:18652205-18652206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200627203	chr9:18652212-18652213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557965544	chr9:18652217-18652218	Weak transcription Strong transcription	n/a	n/a	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:105 , 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	chr9:18643400-18652800	Weak transcription	Osteobl	bone
6	chr9:18643600-18658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:18648200-18683200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:18649400-18653400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:18649400-18658200	Weak transcription	HUVEC	blood vessel
10	chr9:18650000-18658400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:18650400-18654800	Weak transcription	Fetal Stomach	stomach
12	chr9:18650600-18654800	Strong transcription	NHDF-Ad	bronchial
13	chr9:18650600-18655600	Strong transcription	HSMM	muscle
14	chr9:18650600-18655600	Strong transcription	NH-A	brain
15	chr9:18651400-18652800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:18651400-18654800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:18651600-18664800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr9:18652800-18653400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:18652800-18655000	Strong transcription	Osteobl	bone
20	chr9:18653400-18654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:18653400-18657400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:18654800-18655000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:18654800-18655000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:18654800-18655000	Enhancers	Fetal Muscle Leg	muscle
25	chr9:18654800-18655400	Enhancers	Fetal Stomach	stomach
26	chr9:18654800-18655600	Genic enhancers	NHDF-Ad	bronchial
27	chr9:18654800-18656000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr9:18655000-18655200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:18655000-18661000	Genic enhancers	Osteobl	bone
30	chr9:18655000-18661600	Weak transcription	Fetal Muscle Leg	muscle
31	chr9:18655200-18656000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:18655200-18657400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:18655400-18657400	Weak transcription	Fetal Stomach	stomach
34	chr9:18655600-18656400	Weak transcription	HSMM	muscle
35	chr9:18655600-18657400	Weak transcription	NH-A	brain
36	chr9:18655600-18657400	Weak transcription	NHDF-Ad	bronchial
37	chr9:18656000-18656800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr9:18656000-18658200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:18656400-18658200	Strong transcription	HSMM	muscle
40	chr9:18656800-18658000	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr9:18657000-18658800	Weak transcription	Adipose Nuclei	Adipose
42	chr9:18657400-18657600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:18657400-18657600	ZNF genes & repeats	Fetal Stomach	stomach
44	chr9:18657400-18658000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:18657400-18658000	Strong transcription	NH-A	brain
46	chr9:18657400-18658200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:18657400-18660400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr9:18657400-18661600	Genic enhancers	NHDF-Ad	bronchial
49	chr9:18657600-18674400	Weak transcription	Fetal Stomach	stomach
50	chr9:18658000-18658200	Weak transcription	Muscle Satellite Cultured Cells	--

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