Variant report

Variant	nsv892017
Chromosome Location	chr9:1073148-1097089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:1050100..1050940-chr9:1085686..1086526,2	MCF-7	breast:
2	chr9:1050560..1053222-chr9:1082736..1084655,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173253	chromatin interactions

Extended variants
information (count: 242 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530883287	chr9:1082600-1082601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550686979	chr9:1082602-1082603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537267498	chr9:1082610-1082611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79972878	chr9:1082637-1082638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58569219	chr9:1082661-1082662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551106492	chr9:1082663-1082664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535095160	chr9:1082705-1082706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368977764	chr9:1082712-1082713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10156621	chr9:1082727-1082728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375984938	chr9:1082765-1082766	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534109301	chr9:1082771-1082772	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572232024	chr9:1082778-1082779	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541287272	chr9:1082813-1082814	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556820839	chr9:1082833-1082834	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187013189	chr9:1082849-1082850	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576770955	chr9:1082945-1082946	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376538117	chr9:1082957-1082958	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545437300	chr9:1082997-1082998	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559313275	chr9:1082999-1083000	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191452668	chr9:1083044-1083045	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369325839	chr9:1083109-1083110	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564396693	chr9:1083117-1083118	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577867851	chr9:1083125-1083126	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539745940	chr9:1083128-1083129	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150598719	chr9:1083155-1083156	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7024033	chr9:1083171-1083172	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10959261	chr9:1083173-1083174	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs10959262	chr9:1083199-1083200	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563766155	chr9:1083262-1083263	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77320772	chr9:1083300-1083301	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115373124	chr9:1083309-1083310	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546636603	chr9:1083330-1083331	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566887562	chr9:1083335-1083336	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529432785	chr9:1083349-1083350	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10959263	chr9:1083372-1083373	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549733228	chr9:1083417-1083418	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375231554	chr9:1083421-1083422	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs59445668	chr9:1083422-1083423	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569465972	chr9:1083435-1083436	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201050930	chr9:1083444-1083445	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13299202	chr9:1083445-1083446	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559729019	chr9:1083455-1083456	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558335950	chr9:1083474-1083475	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372715113	chr9:1083484-1083485	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576825536	chr9:1083556-1083557	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528490137	chr9:1083564-1083565	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs71327373	chr9:1083565-1083566	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs398087088	chr9:1083572-1083573	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs398096235	chr9:1083573-1083574	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143216744	chr9:1083728-1083729	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1082600-1082800	Enhancers	NHDF-Ad	bronchial
2	chr9:1082800-1083000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:1082800-1084000	Active TSS	NHDF-Ad	bronchial
4	chr9:1083000-1083200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr9:1083000-1083200	Enhancers	Brain Hippocampus Middle	brain
6	chr9:1083000-1083400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:1083000-1083400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:1083000-1083800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:1083000-1084000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:1083000-1084200	Active TSS	Brain Cingulate Gyrus	brain
11	chr9:1083200-1083400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:1083200-1083600	Active TSS	Fetal Muscle Trunk	muscle
13	chr9:1083200-1083800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr9:1083200-1083800	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr9:1083200-1083800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:1083200-1083800	Active TSS	Adipose Nuclei	Adipose
17	chr9:1083200-1083800	Active TSS	Brain Hippocampus Middle	brain
18	chr9:1083200-1083800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr9:1083200-1083800	Active TSS	HSMM	muscle
20	chr9:1083200-1084000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chr9:1083200-1084000	Active TSS	Brain Anterior Caudate	brain
22	chr9:1083200-1084000	Active TSS	Psoas Muscle	Psoas
23	chr9:1083400-1083600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr9:1083400-1083600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:1083400-1083600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr9:1083400-1083800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr9:1083400-1083800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:1083400-1083800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr9:1083400-1083800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:1083400-1083800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:1083400-1083800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr9:1083400-1083800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:1083400-1083800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:1083400-1083800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:1083400-1083800	Active TSS	Brain Substantia Nigra	brain
36	chr9:1083400-1083800	Active TSS	Colon Smooth Muscle	Colon
37	chr9:1083400-1083800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr9:1083400-1083800	Active TSS	Fetal Brain Female	brain
39	chr9:1083400-1083800	Bivalent/Poised TSS	Fetal Lung	lung
40	chr9:1083400-1083800	Active TSS	Fetal Muscle Leg	muscle
41	chr9:1083400-1083800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr9:1083400-1083800	Active TSS	Right Atrium	heart
43	chr9:1083400-1083800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr9:1083400-1083800	Active TSS	HSMMtube	muscle
45	chr9:1083400-1084000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr9:1083400-1084000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr9:1083400-1084000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr9:1083400-1084000	Active TSS	Brain Angular Gyrus	brain
49	chr9:1083400-1084000	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr9:1083400-1084000	Active TSS	A549	lung

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