Variant report

Variant	nsv1023460
Chromosome Location	chr9:924525-953746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:923145..924947-chr9:928055..930388,2	MCF-7	breast:
2	chr9:931185..932724-chr9:947067..948621,2	MCF-7	breast:
3	chr9:937368..939632-chr9:940406..941967,2	MCF-7	breast:
4	chr9:952441..954452-chr9:976112..977840,2	K562	blood:
5	chr9:931185..932724-chr9:947067..948621,2	MCF-7	breast:
6	chr9:945711..948034-chr9:954926..957736,2	MCF-7	breast:
7	chr9:945895..948429-chr9:952916..954422,2	MCF-7	breast:
8	chr9:937368..939632-chr9:940406..941967,2	MCF-7	breast:
9	chr9:923145..924947-chr9:928055..930388,2	MCF-7	breast:
10	chr9:945895..948429-chr9:952916..954422,2	MCF-7	breast:
11	chr9:950930..953777-chr9:967112..968787,2	MCF-7	breast:
12	chr9:947744..949483-chr9:965915..968744,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000064218	chromatin interactions

Extended variants
information (count: 362 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561119063	chr9:926613-926614	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs147094759	chr9:926615-926616	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs138464189	chr9:926636-926637	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs2370161	chr9:926639-926640	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531477404	chr9:926642-926643	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs3083134	chr9:926682-926683	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs60467455	chr9:926687-926688	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs113710441	chr9:926688-926689	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs2370162	chr9:926689-926690	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs397687055	chr9:926692-926693	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs57146042	chr9:926717-926718	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs180771915	chr9:926742-926743	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs144137283	chr9:926751-926752	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs2370164	chr9:926762-926763	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10816059	chr9:926779-926780	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144366498	chr9:926787-926788	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs561378706	chr9:926858-926859	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs556370199	chr9:926859-926860	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs570007027	chr9:926877-926878	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs539135137	chr9:926878-926879	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs9886854	chr9:926895-926896	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572130585	chr9:926899-926900	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs541057033	chr9:926915-926916	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs186455895	chr9:926975-926976	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs574831714	chr9:926987-926988	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs543649075	chr9:926999-927000	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs563906583	chr9:927015-927016	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs116396853	chr9:927044-927045	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs115839316	chr9:927046-927047	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs116178984	chr9:927047-927048	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs148301855	chr9:927059-927060	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs189312999	chr9:927091-927092	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs374686057	chr9:927111-927112	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs181735613	chr9:927115-927116	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs530005216	chr9:927127-927128	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs34838155	chr9:927138-927139	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs141397925	chr9:927146-927147	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs569851340	chr9:927188-927189	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs551224458	chr9:927209-927210	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs73380434	chr9:927217-927218	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560029099	chr9:927220-927221	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs370379709	chr9:927225-927226	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs565868971	chr9:927234-927235	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs373803854	chr9:927264-927265	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs554586944	chr9:927266-927267	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs12375704	chr9:927280-927281	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs367717973	chr9:927316-927317	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs530460164	chr9:927328-927329	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs112037860	chr9:927330-927331	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs186000038	chr9:927344-927345	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	21272361	CNVD
Non-small cell lung cancer	16651412	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:926600-927000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:926600-927400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:933400-934200	Enhancers	Placenta	Placenta
4	chr9:934200-935200	Weak transcription	Placenta	Placenta
5	chr9:935200-935400	Active TSS	Fetal Brain Female	brain
6	chr9:935200-935400	Bivalent Enhancer	Fetal Kidney	kidney
7	chr9:935200-935400	Enhancers	Fetal Lung	lung
8	chr9:935200-935600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr9:935200-935800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:935200-935800	Active TSS	Right Atrium	heart
11	chr9:935200-936200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:935200-936200	Active TSS	Aorta	Aorta
13	chr9:935200-936200	Enhancers	Placenta	Placenta
14	chr9:935400-935600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:935400-935600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:935400-935600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:935400-935600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr9:935400-935600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr9:935400-935600	Flanking Active TSS	Fetal Brain Female	brain
20	chr9:935400-935600	Enhancers	NHEK	skin
21	chr9:935400-935800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:935400-935800	Bivalent/Poised TSS	Fetal Brain Male	brain
23	chr9:935400-935800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
24	chr9:935400-935800	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr9:935400-936000	Flanking Active TSS	Fetal Lung	lung
26	chr9:935400-936000	Bivalent Enhancer	Fetal Stomach	stomach
27	chr9:935600-935800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:935600-935800	Active TSS	Adipose Nuclei	Adipose
29	chr9:935600-935800	Active TSS	Fetal Brain Female	brain
30	chr9:935600-935800	Flanking Active TSS	NHEK	skin
31	chr9:935600-936000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr9:935600-936000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:935600-936000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:935600-936200	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr9:935800-936000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:935800-936000	Flanking Active TSS	Fetal Brain Female	brain
37	chr9:935800-936000	Bivalent Enhancer	HSMMtube	muscle
38	chr9:935800-936000	Enhancers	NHEK	skin
39	chr9:935800-936200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:935800-936200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr9:935800-936400	Bivalent Enhancer	Fetal Kidney	kidney
42	chr9:936000-936200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
43	chr9:936000-936200	Enhancers	Fetal Brain Female	brain
44	chr9:936000-936200	Enhancers	Fetal Lung	lung
45	chr9:936000-936200	Flanking Active TSS	NHEK	skin
46	chr9:936000-936400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:936000-936400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:936000-936600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:936200-936400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:936200-936400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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