Variant report

Variant	nsv1032966
Chromosome Location	chr9:7671812-7740619
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	chr9:7705498..7708258-chr9:7798756..7800943,2	MCF-7	breast:
2	chr9:7740039..7741870-chr9:7890019..7892015,2	K562	blood:

Variant related genes	Relation type
ENSG00000137038	chromatin interactions

Extended variants
information (count: 2095 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2095 , 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	rs145709371	chr9:7671815-7671816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572065711	chr9:7671852-7671853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564211354	chr9:7671899-7671900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558416583	chr9:7671953-7671954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146587969	chr9:7671960-7671961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190525149	chr9:7671989-7671990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560459036	chr9:7672001-7672002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372916065	chr9:7672025-7672026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572398884	chr9:7672027-7672028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192213563	chr9:7672065-7672066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565322235	chr9:7672066-7672067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577733153	chr9:7672067-7672068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532499365	chr9:7672081-7672082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112411964	chr9:7672082-7672083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543616460	chr9:7672094-7672095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184661637	chr9:7672117-7672118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10815654	chr9:7672125-7672126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530277881	chr9:7672196-7672197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35428929	chr9:7672199-7672200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548394800	chr9:7672213-7672214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370910161	chr9:7672238-7672239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566801059	chr9:7672268-7672269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79395276	chr9:7672282-7672283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76380150	chr9:7672293-7672294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145134235	chr9:7672299-7672300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576222590	chr9:7672327-7672328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148349254	chr9:7672340-7672341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71500932	chr9:7672375-7672376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397776405	chr9:7672382-7672383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556189896	chr9:7672394-7672395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73640513	chr9:7676004-7676005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186099189	chr9:7676007-7676008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543778011	chr9:7676008-7676009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554180179	chr9:7676024-7676025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533181040	chr9:7676031-7676032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17627776	chr9:7676067-7676068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190516154	chr9:7676087-7676088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375968264	chr9:7676088-7676089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72695186	chr9:7676124-7676125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62530127	chr9:7676139-7676140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374169306	chr9:7676145-7676146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565301647	chr9:7676168-7676169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544093216	chr9:7676179-7676180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34807091	chr9:7676215-7676216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148974201	chr9:7676219-7676220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574814133	chr9:7676232-7676233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73406776	chr9:7676242-7676243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73406778	chr9:7676250-7676251	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372523837	chr9:7676268-7676269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540680918	chr9:7676269-7676270	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7671800-7672400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr9:7676000-7677400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:7676800-7677200	Enhancers	Brain Cingulate Gyrus	brain
4	chr9:7677000-7677200	Enhancers	Brain Substantia Nigra	brain
5	chr9:7677000-7677400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr9:7677000-7677800	Enhancers	Brain Hippocampus Middle	brain
7	chr9:7679600-7679800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:7683200-7684000	Enhancers	Fetal Heart	heart
9	chr9:7683400-7683800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:7683400-7684000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:7683400-7684200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:7683800-7689200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:7684000-7689000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:7686800-7687000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:7687200-7688200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:7687600-7687800	Enhancers	Fetal Lung	lung
17	chr9:7687800-7688000	Flanking Active TSS	Fetal Lung	lung
18	chr9:7688000-7689600	Enhancers	Fetal Lung	lung
19	chr9:7688000-7691000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:7688200-7691400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:7688800-7689200	Enhancers	Fetal Kidney	kidney
22	chr9:7689000-7690200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:7689200-7689400	Active TSS	Brain Substantia Nigra	brain
24	chr9:7689200-7689600	Active TSS	Brain Cingulate Gyrus	brain
25	chr9:7689200-7689600	Flanking Active TSS	Fetal Kidney	kidney
26	chr9:7689200-7689800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:7689400-7689600	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr9:7689400-7689800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr9:7689400-7690200	Enhancers	Fetal Stomach	stomach
30	chr9:7689400-7690200	Enhancers	Ovary	ovary
31	chr9:7689400-7690400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:7689600-7689800	Enhancers	Brain Cingulate Gyrus	brain
33	chr9:7689600-7689800	Enhancers	Brain Substantia Nigra	brain
34	chr9:7689600-7690200	Enhancers	Brain Anterior Caudate	brain
35	chr9:7689600-7691000	Enhancers	Fetal Kidney	kidney
36	chr9:7690600-7691600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:7691600-7692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:7692200-7692800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:7692800-7694000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:7693200-7695800	Enhancers	HSMMtube	muscle
41	chr9:7694000-7695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:7694200-7694600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr9:7694200-7694800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:7694600-7695200	Enhancers	Fetal Heart	heart
45	chr9:7695000-7695400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:7695400-7695600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:7695600-7695800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:7700200-7702600	Weak transcription	Pancreas	Pancrea
49	chr9:7702600-7702800	Enhancers	Pancreas	Pancrea
50	chr9:7707400-7708400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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