Variant report

Variant	nsv613298
Chromosome Location	chr9:8787733-8800078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:8791919-8792041	A549	lung:	n/a	n/a
2	POLR2A	chr9:8791032-8791175	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr9:8787855-8787865	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr9:8790205-8790336	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU7-185P	TF binding region

Extended variants
information (count: 665 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3802396	chr9:8787733-8787734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372442422	chr9:8787744-8787745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534733961	chr9:8787745-8787746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374682951	chr9:8787762-8787763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557710520	chr9:8787775-8787776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578085638	chr9:8787793-8787794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139095653	chr9:8787850-8787851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192300384	chr9:8787859-8787860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141762368	chr9:8787861-8787862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577088611	chr9:8787871-8787872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111467464	chr9:8787905-8787906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150349255	chr9:8787906-8787907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs33995771	chr9:8787908-8787909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200092988	chr9:8787909-8787910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544179393	chr9:8787913-8787914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555851506	chr9:8787932-8787933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376699547	chr9:8787976-8787977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541899004	chr9:8787983-8787984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183515125	chr9:8788001-8788002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528694040	chr9:8788019-8788020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540857418	chr9:8788033-8788034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565559593	chr9:8788045-8788046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532662831	chr9:8788156-8788157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368523343	chr9:8788190-8788191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569111922	chr9:8788201-8788202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11793026	chr9:8788237-8788238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12351221	chr9:8788238-8788239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566668644	chr9:8788240-8788241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533713481	chr9:8788273-8788274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375661292	chr9:8788275-8788276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11793028	chr9:8788277-8788278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140235540	chr9:8788292-8788293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570640858	chr9:8788306-8788307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371727563	chr9:8788314-8788315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147078944	chr9:8788328-8788329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71507661	chr9:8788361-8788362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574476912	chr9:8788364-8788365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188556981	chr9:8788374-8788375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374990114	chr9:8788403-8788404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553881113	chr9:8788406-8788407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560052950	chr9:8788420-8788421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545902133	chr9:8788459-8788460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149634126	chr9:8788479-8788480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577372977	chr9:8788540-8788541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544539649	chr9:8788566-8788567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143891183	chr9:8788567-8788568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192766693	chr9:8788578-8788579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373167595	chr9:8788610-8788611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184834996	chr9:8788614-8788615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560195571	chr9:8788625-8788626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8778800-8798600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:8784800-8789000	Weak transcription	Fetal Heart	heart
3	chr9:8785400-8797400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:8786000-8793000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:8786200-8789200	Weak transcription	Brain Angular Gyrus	brain
6	chr9:8786200-8789200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:8786200-8793800	Weak transcription	Fetal Lung	lung
8	chr9:8786200-8799000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:8786200-8799400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:8786400-8791000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:8786400-8791000	Weak transcription	Brain Substantia Nigra	brain
12	chr9:8786400-8793000	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:8786400-8799400	Weak transcription	Fetal Kidney	kidney
14	chr9:8787200-8793000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:8787600-8788000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:8789000-8789600	Enhancers	Fetal Heart	heart
17	chr9:8789200-8789400	Enhancers	Brain Cingulate Gyrus	brain
18	chr9:8789200-8789600	Enhancers	Brain Angular Gyrus	brain
19	chr9:8790800-8794600	Weak transcription	Ovary	ovary
20	chr9:8791000-8791200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr9:8791000-8791200	Enhancers	Brain Substantia Nigra	brain
22	chr9:8791200-8793000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:8792200-8792600	Enhancers	Dnd41	blood
24	chr9:8793000-8793400	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr9:8793000-8794400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:8793000-8794800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:8793400-8793800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr9:8793400-8795800	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:8793400-8798000	Weak transcription	Brain Anterior Caudate	brain
30	chr9:8793600-8793800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr9:8793800-8794200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr9:8793800-8794200	Strong transcription	Fetal Lung	lung
33	chr9:8794000-8794200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:8794000-8794200	Enhancers	Brain Cingulate Gyrus	brain
35	chr9:8794000-8797600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:8794200-8797200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr9:8794200-8798600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:8794200-8799400	Weak transcription	Fetal Lung	lung
39	chr9:8794200-8821800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr9:8794400-8799200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:8794600-8794800	Enhancers	Ovary	ovary
42	chr9:8794800-8799800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:8794800-8825600	Weak transcription	Ovary	ovary
44	chr9:8795800-8797600	Enhancers	Brain Hippocampus Middle	brain
45	chr9:8796000-8796200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr9:8796000-8796600	Enhancers	Brain Substantia Nigra	brain
47	chr9:8796200-8797400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr9:8796600-8797600	Weak transcription	Brain Substantia Nigra	brain
49	chr9:8797200-8800000	Enhancers	Brain Cingulate Gyrus	brain
50	chr9:8797400-8797600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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