Variant report

Variant	nsv892211
Chromosome Location	chr9:7677811-7719758
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: 1225 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138640587	chr9:7679615-7679616	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572952679	chr9:7679618-7679619	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141856506	chr9:7679634-7679635	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs146264969	chr9:7679638-7679639	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565502822	chr9:7679654-7679655	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs140033525	chr9:7679663-7679664	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2930712	chr9:7679666-7679667	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs146927641	chr9:7679670-7679671	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs531067144	chr9:7679681-7679682	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549596746	chr9:7679743-7679744	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs367756225	chr9:7679744-7679745	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs532601569	chr9:7679755-7679756	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567801773	chr9:7679792-7679793	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs328850	chr9:7683208-7683209	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs567145301	chr9:7683214-7683215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114919318	chr9:7683268-7683269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77139543	chr9:7683314-7683315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540059241	chr9:7683322-7683323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558467612	chr9:7683333-7683334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139232162	chr9:7683340-7683341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367919146	chr9:7683344-7683345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182511145	chr9:7683350-7683351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375723612	chr9:7683364-7683365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35689445	chr9:7683398-7683399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113902335	chr9:7683405-7683406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372145483	chr9:7683420-7683421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555389475	chr9:7683438-7683439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554776703	chr9:7683459-7683460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186794789	chr9:7683555-7683556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541080626	chr9:7683561-7683562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs328849	chr9:7683590-7683591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192168565	chr9:7683614-7683615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544835093	chr9:7683624-7683625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550536893	chr9:7683653-7683654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185698168	chr9:7683663-7683664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs328848	chr9:7683665-7683666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs111943383	chr9:7683670-7683671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562072162	chr9:7683691-7683692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147264217	chr9:7683692-7683693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372011119	chr9:7683698-7683699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112609197	chr9:7683700-7683701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368345448	chr9:7683709-7683710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140936839	chr9:7683757-7683758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144852467	chr9:7683758-7683759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552043880	chr9:7683804-7683805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570360076	chr9:7683820-7683821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190262625	chr9:7683849-7683850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10976499	chr9:7683890-7683891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573546939	chr9:7683895-7683896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534344050	chr9:7683917-7683918	Weak transcription Enhancers	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7679600-7679800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:7683200-7684000	Enhancers	Fetal Heart	heart
3	chr9:7683400-7683800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:7683400-7684000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:7683400-7684200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:7683800-7689200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:7684000-7689000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:7686800-7687000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:7687200-7688200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:7687600-7687800	Enhancers	Fetal Lung	lung
11	chr9:7687800-7688000	Flanking Active TSS	Fetal Lung	lung
12	chr9:7688000-7689600	Enhancers	Fetal Lung	lung
13	chr9:7688000-7691000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:7688200-7691400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:7688800-7689200	Enhancers	Fetal Kidney	kidney
16	chr9:7689000-7690200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:7689200-7689400	Active TSS	Brain Substantia Nigra	brain
18	chr9:7689200-7689600	Active TSS	Brain Cingulate Gyrus	brain
19	chr9:7689200-7689600	Flanking Active TSS	Fetal Kidney	kidney
20	chr9:7689200-7689800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:7689400-7689600	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr9:7689400-7689800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:7689400-7690200	Enhancers	Fetal Stomach	stomach
24	chr9:7689400-7690200	Enhancers	Ovary	ovary
25	chr9:7689400-7690400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:7689600-7689800	Enhancers	Brain Cingulate Gyrus	brain
27	chr9:7689600-7689800	Enhancers	Brain Substantia Nigra	brain
28	chr9:7689600-7690200	Enhancers	Brain Anterior Caudate	brain
29	chr9:7689600-7691000	Enhancers	Fetal Kidney	kidney
30	chr9:7690600-7691600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:7691600-7692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:7692200-7692800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:7692800-7694000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:7693200-7695800	Enhancers	HSMMtube	muscle
35	chr9:7694000-7695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:7694200-7694600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr9:7694200-7694800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:7694600-7695200	Enhancers	Fetal Heart	heart
39	chr9:7695000-7695400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:7695400-7695600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:7695600-7695800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:7700200-7702600	Weak transcription	Pancreas	Pancrea
43	chr9:7702600-7702800	Enhancers	Pancreas	Pancrea
44	chr9:7707400-7708400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:7707800-7708200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:7708200-7708800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr9:7710400-7711400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:7711200-7713200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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