Variant report

Variant	nsv892209
Chromosome Location	chr9:7668843-7720636
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:

Variant related genes	Relation type
ENSG00000137038	chromatin interactions

Extended variants
information (count: 1444 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1444 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377655782	chr9:7670218-7670219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574093266	chr9:7670239-7670240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535202268	chr9:7670256-7670257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16926566	chr9:7670259-7670260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148392766	chr9:7670261-7670262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575919684	chr9:7670296-7670297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181200648	chr9:7670318-7670319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557638039	chr9:7670334-7670335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575092033	chr9:7670346-7670347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542625629	chr9:7670378-7670379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78188629	chr9:7670389-7670390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116598910	chr9:7670412-7670413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540025489	chr9:7670477-7670478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376014111	chr9:7670510-7670511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564776009	chr9:7670543-7670544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532267957	chr9:7670576-7670577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550553251	chr9:7670589-7670590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185423132	chr9:7670597-7670598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530776219	chr9:7670598-7670599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143529895	chr9:7670599-7670600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2930742	chr9:7670606-7670607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527360952	chr9:7670619-7670620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536115832	chr9:7670629-7670630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191014663	chr9:7670667-7670668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529319807	chr9:7670694-7670695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2930741	chr9:7670695-7670696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs3005763	chr9:7670701-7670702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs367857056	chr9:7670719-7670720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557337991	chr9:7670732-7670733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147158543	chr9:7670763-7670764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184050665	chr9:7670775-7670776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556392603	chr9:7670801-7670802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572597506	chr9:7670803-7670804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539982480	chr9:7670804-7670805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187212303	chr9:7670822-7670823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10976490	chr9:7670849-7670850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544409639	chr9:7670850-7670851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531569362	chr9:7670893-7670894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562611544	chr9:7670920-7670921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191584517	chr9:7670930-7670931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201598076	chr9:7670932-7670933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12553784	chr9:7670943-7670944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375088557	chr9:7670954-7670955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575962142	chr9:7670977-7670978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200020553	chr9:7670978-7670979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528497829	chr9:7670989-7670990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182778063	chr9:7671006-7671007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187320911	chr9:7671046-7671047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538830220	chr9:7671047-7671048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201288269	chr9:7671095-7671096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7670200-7670600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr9:7670600-7671800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr9:7671800-7672400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr9:7676000-7677400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:7676800-7677200	Enhancers	Brain Cingulate Gyrus	brain
6	chr9:7677000-7677200	Enhancers	Brain Substantia Nigra	brain
7	chr9:7677000-7677400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr9:7677000-7677800	Enhancers	Brain Hippocampus Middle	brain
9	chr9:7679600-7679800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:7683200-7684000	Enhancers	Fetal Heart	heart
11	chr9:7683400-7683800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:7683400-7684000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:7683400-7684200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:7683800-7689200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:7684000-7689000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:7686800-7687000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:7687200-7688200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:7687600-7687800	Enhancers	Fetal Lung	lung
19	chr9:7687800-7688000	Flanking Active TSS	Fetal Lung	lung
20	chr9:7688000-7689600	Enhancers	Fetal Lung	lung
21	chr9:7688000-7691000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:7688200-7691400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:7688800-7689200	Enhancers	Fetal Kidney	kidney
24	chr9:7689000-7690200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:7689200-7689400	Active TSS	Brain Substantia Nigra	brain
26	chr9:7689200-7689600	Active TSS	Brain Cingulate Gyrus	brain
27	chr9:7689200-7689600	Flanking Active TSS	Fetal Kidney	kidney
28	chr9:7689200-7689800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:7689400-7689600	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr9:7689400-7689800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:7689400-7690200	Enhancers	Fetal Stomach	stomach
32	chr9:7689400-7690200	Enhancers	Ovary	ovary
33	chr9:7689400-7690400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:7689600-7689800	Enhancers	Brain Cingulate Gyrus	brain
35	chr9:7689600-7689800	Enhancers	Brain Substantia Nigra	brain
36	chr9:7689600-7690200	Enhancers	Brain Anterior Caudate	brain
37	chr9:7689600-7691000	Enhancers	Fetal Kidney	kidney
38	chr9:7690600-7691600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:7691600-7692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:7692200-7692800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:7692800-7694000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:7693200-7695800	Enhancers	HSMMtube	muscle
43	chr9:7694000-7695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:7694200-7694600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr9:7694200-7694800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:7694600-7695200	Enhancers	Fetal Heart	heart
47	chr9:7695000-7695400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:7695400-7695600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:7695600-7695800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:7700200-7702600	Weak transcription	Pancreas	Pancrea

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