Variant report

Variant	nsv892693
Chromosome Location	chr9:18541710-18584860
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	chr9:18574188-18574199	GM12878	blood:	n/a	n/a
2	CEBPB	chr9:18544401-18544745	IMR90	lung:	n/a	chr9:18544557-18544570
3	CEBPB	chr9:18578617-18578692	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:18544465-18544730	Hela-S3	cervix:	n/a	chr9:18544557-18544570
5	CEBPB	chr9:18578396-18578419	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr9:18580228-18580540	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr9:18558416-18558461	LNCaP	prostate:	n/a	n/a
8	CTCF	chr9:18569940-18570090	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr9:18566277-18566314	Pancreas_OC	pancreas:	n/a	n/a
10	E2F4	chr9:18566069-18566388	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr9:18580008-18580719	SK-N-SH	brain:	n/a	n/a
12	EP300	chr9:18580185-18580513	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr9:18568762-18569524	SK-N-SH	brain:	n/a	chr9:18569464-18569471
14	EP300	chr9:18542000-18545471	SK-N-SH	brain:	n/a	chr9:18542769-18542778 chr9:18544377-18544385 chr9:18544203-18544217 chr9:18544856-18544870
15	EP300	chr9:18568831-18569792	SK-N-SH	brain:	n/a	chr9:18569464-18569471
16	EP300	chr9:18544118-18544387	SK-N-SH_RA	brain:	n/a	chr9:18544377-18544385 chr9:18544203-18544217
17	EP300	chr9:18544893-18545181	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr9:18544456-18544782	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr9:18568503-18568711	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr9:18542589-18544187	SK-N-SH	brain:	n/a	chr9:18542769-18542778
21	EP300	chr9:18579603-18579901	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr9:18542633-18544192	SK-N-SH	brain:	n/a	chr9:18542769-18542778
23	EP300	chr9:18544502-18545134	SK-N-SH_RA	brain:	n/a	chr9:18544856-18544870
24	EP300	chr9:18566166-18566491	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr9:18568939-18569707	SK-N-SH_RA	brain:	n/a	chr9:18569464-18569471
26	EP300	chr9:18568796-18569527	SK-N-SH	brain:	n/a	chr9:18569464-18569471
27	EP300	chr9:18542694-18544114	SK-N-SH_RA	brain:	n/a	chr9:18542769-18542778
28	EP300	chr9:18568965-18569714	SK-N-SH_RA	brain:	n/a	chr9:18569464-18569471
29	EP300	chr9:18542682-18544100	SK-N-SH_RA	brain:	n/a	chr9:18542769-18542778
30	EP300	chr9:18566175-18566450	SK-N-SH_RA	brain:	n/a	n/a
31	FOS	chr9:18570054-18570254	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr9:18543043-18543919	HUVEC	blood vessel:	n/a	chr9:18543711-18543722 chr9:18543876-18543888
33	FOS	chr9:18570062-18570144	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr9:18566074-18566468	MCF10A-Er-Src	breast:	n/a	chr9:18566277-18566288
35	FOS	chr9:18570069-18570269	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr9:18566092-18566516	MCF10A-Er-Src	breast:	n/a	chr9:18566277-18566288
37	FOS	chr9:18543491-18543878	MCF10A-Er-Src	breast:	n/a	chr9:18543711-18543722
38	FOS	chr9:18544469-18544776	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr9:18566136-18566623	HUVEC	blood vessel:	n/a	chr9:18566277-18566288
40	FOS	chr9:18566081-18566533	MCF10A-Er-Src	breast:	n/a	chr9:18566277-18566288
41	FOS	chr9:18543612-18543812	MCF10A-Er-Src	breast:	n/a	chr9:18543711-18543722
42	FOS	chr9:18543532-18543837	MCF10A-Er-Src	breast:	n/a	chr9:18543711-18543722
43	FOS	chr9:18543058-18543214	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr9:18566108-18566469	MCF10A-Er-Src	breast:	n/a	chr9:18566277-18566288
45	FOS	chr9:18544388-18544890	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr9:18544366-18544932	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr9:18543477-18543871	MCF10A-Er-Src	breast:	n/a	chr9:18543711-18543722
48	FOSL2	chr9:18543393-18544024	SK-N-SH	brain:	n/a	chr9:18543876-18543888
49	FOSL2	chr9:18569892-18570328	SK-N-SH	brain:	n/a	n/a
50	FOSL2	chr9:18542801-18544125	SK-N-SH	brain:	n/a	chr9:18543876-18543888

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18552353..18554750-chr9:18819699..18822182,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3152-3p	chr9:18573348-18573369	MIMAT0015025
hsa-miR-3152-5p	chr9:18573314-18573335	MIMAT0019207

Variant related genes	Relation type
MIR3152	TF binding region

Extended variants
information (count: 2082 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2082 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6475228	chr9:18541710-18541711	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576993202	chr9:18541733-18541734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530153561	chr9:18541745-18541746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111827317	chr9:18541753-18541754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559317664	chr9:18541758-18541759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371266584	chr9:18541792-18541793	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190100520	chr9:18541798-18541799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182397280	chr9:18541835-18541836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533271426	chr9:18541853-18541854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563397372	chr9:18541876-18541877	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530658671	chr9:18541948-18541949	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551951349	chr9:18541968-18541969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1341066	chr9:18541992-18541993	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs75035062	chr9:18542018-18542019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34023792	chr9:18542027-18542028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372486212	chr9:18542029-18542030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77350328	chr9:18542067-18542068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73644235	chr9:18542068-18542069	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186431579	chr9:18542074-18542075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189367848	chr9:18542094-18542095	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537672175	chr9:18542101-18542102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559182347	chr9:18542148-18542149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372987268	chr9:18542151-18542152	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117598832	chr9:18542179-18542180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35116229	chr9:18542216-18542217	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35669972	chr9:18542220-18542221	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546165664	chr9:18542266-18542267	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373297084	chr9:18542300-18542301	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80086631	chr9:18542340-18542341	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541452248	chr9:18542368-18542369	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76844865	chr9:18542369-18542370	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575173770	chr9:18542382-18542383	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141258252	chr9:18542401-18542402	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563953585	chr9:18542442-18542443	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147388545	chr9:18542445-18542446	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576806628	chr9:18542448-18542449	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137995040	chr9:18542460-18542461	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559546438	chr9:18542474-18542475	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34918884	chr9:18542511-18542512	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180733872	chr9:18542534-18542535	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548285092	chr9:18542564-18542565	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570399982	chr9:18542574-18542575	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531250023	chr9:18542633-18542634	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs117101315	chr9:18542681-18542682	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571062680	chr9:18542682-18542683	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371059089	chr9:18542715-18542716	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534867091	chr9:18542720-18542721	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs117524157	chr9:18542740-18542741	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs568060603	chr9:18542750-18542751	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs557040466	chr9:18542788-18542789	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Ovarian cancer	19835627	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18535000-18542400	Weak transcription	NHLF	lung
2	chr9:18535000-18542600	Weak transcription	Fetal Stomach	stomach
3	chr9:18536000-18542200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:18536000-18542200	Strong transcription	HSMM	muscle
5	chr9:18536200-18542800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:18536800-18542400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:18538000-18543400	Weak transcription	HSMMtube	muscle
8	chr9:18538400-18542400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:18538800-18543800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:18539400-18545000	Weak transcription	Fetal Heart	heart
11	chr9:18540200-18542200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:18541000-18541800	Weak transcription	NHDF-Ad	bronchial
13	chr9:18541200-18542200	Weak transcription	NH-A	brain
14	chr9:18541600-18546800	Enhancers	Osteobl	bone
15	chr9:18541800-18543400	Enhancers	NHDF-Ad	bronchial
16	chr9:18542200-18542600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr9:18542200-18542800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:18542200-18542800	Genic enhancers	HSMM	muscle
19	chr9:18542200-18544600	Enhancers	HUVEC	blood vessel
20	chr9:18542200-18546200	Enhancers	NH-A	brain
21	chr9:18542400-18542800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:18542400-18545400	Enhancers	NHLF	lung
23	chr9:18542400-18546400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:18542600-18543600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr9:18542600-18543600	Enhancers	Fetal Stomach	stomach
26	chr9:18542600-18546200	Enhancers	HMEC	breast
27	chr9:18542800-18543000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:18542800-18543000	Enhancers	HSMM	muscle
29	chr9:18542800-18543400	Enhancers	Brain Substantia Nigra	brain
30	chr9:18542800-18543600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:18542800-18544000	Enhancers	Brain Hippocampus Middle	brain
32	chr9:18542800-18544200	Enhancers	Colon Smooth Muscle	Colon
33	chr9:18542800-18544400	Enhancers	Fetal Lung	lung
34	chr9:18542800-18544800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:18542800-18544800	Enhancers	NHEK	skin
36	chr9:18542800-18545400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:18542800-18546000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:18542800-18546000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:18543000-18543400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:18543000-18543400	Flanking Active TSS	HSMM	muscle
41	chr9:18543000-18544200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:18543200-18545000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:18543400-18543600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr9:18543400-18543800	Weak transcription	Brain Substantia Nigra	brain
45	chr9:18543400-18544000	Enhancers	HSMMtube	muscle
46	chr9:18543400-18544200	Enhancers	HSMM	muscle
47	chr9:18543400-18545600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:18543600-18543800	Enhancers	NHDF-Ad	bronchial
49	chr9:18543600-18544000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:18543600-18544000	Enhancers	Duodenum Smooth Muscle	Duodenum

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