Variant report

Variant	nsv972766
Chromosome Location	chr9:84592383-84598413
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	BHLHE40	chr9:84594278-84594368	GM12878	blood:	n/a	n/a
2	CHD2	chr9:84594382-84594421	GM12878	blood:	n/a	n/a
3	EP300	chr9:84594211-84594461	GM12878	blood:	n/a	n/a
4	EP300	chr9:84596912-84597102	GM12878	blood:	n/a	n/a
5	EP300	chr9:84594150-84594388	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:84594194-84594354	ProgFib	skin:	n/a	n/a
7	POLR2A	chr9:84594526-84594592	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:84596315-84596494	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr9:84596398-84596486	HUVEC	blood vessel:	n/a	n/a
10	POU2F2	chr9:84594198-84594509	GM12891	blood:	n/a	chr9:84594473-84594488
11	POU2F2	chr9:84594140-84594408	GM12891	blood:	n/a	n/a
12	TCF12	chr9:84595385-84596010	SK-N-SH	brain:	n/a	n/a
13	ZNF384	chr9:84594236-84594650	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:84579954..84582797-chr9:84592231..84595041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267559	TF binding region

Extended variants
information (count: 128 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548873398	chr9:84593800-84593801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553796600	chr9:84593886-84593887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181674440	chr9:84593889-84593890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527309454	chr9:84593907-84593908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184944904	chr9:84593962-84593963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150661170	chr9:84593963-84593964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139916262	chr9:84593991-84593992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549853150	chr9:84594001-84594002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573764611	chr9:84594053-84594054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568269651	chr9:84594071-84594072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117327769	chr9:84594094-84594095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189452816	chr9:84594112-84594113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79550739	chr9:84594247-84594248	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs542585497	chr9:84594263-84594264	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs534236074	chr9:84594288-84594289	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs118112073	chr9:84594328-84594329	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576971919	chr9:84594334-84594335	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544303297	chr9:84594344-84594345	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs149428351	chr9:84594382-84594383	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs556445570	chr9:84594472-84594473	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558330022	chr9:84594486-84594487	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs574993177	chr9:84594491-84594492	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542034651	chr9:84594520-84594521	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs368482411	chr9:84594533-84594534	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs578144714	chr9:84594679-84594680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560873587	chr9:84594805-84594806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144863236	chr9:84594807-84594808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180888984	chr9:84594857-84594858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564072277	chr9:84594859-84594860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185141679	chr9:84595012-84595013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549916514	chr9:84595017-84595018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568036419	chr9:84595047-84595048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375035438	chr9:84595049-84595050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575519124	chr9:84595075-84595076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547262581	chr9:84595140-84595141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74781649	chr9:84595215-84595216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544654745	chr9:84595254-84595255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539349750	chr9:84595380-84595381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557583894	chr9:84595410-84595411	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs570522758	chr9:84595414-84595415	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs564491069	chr9:84595417-84595418	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs533321507	chr9:84595427-84595428	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs537814694	chr9:84595432-84595433	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs376940174	chr9:84595449-84595450	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs139786795	chr9:84595473-84595474	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs540378778	chr9:84595477-84595478	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs542449472	chr9:84595542-84595543	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368670727	chr9:84595556-84595557	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs554069010	chr9:84595608-84595609	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs572551394	chr9:84595622-84595623	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Epilepsy	20502679	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84593800-84594400	Enhancers	Primary B cells from peripheral blood	blood
2	chr9:84593800-84595000	Enhancers	Dnd41	blood
3	chr9:84594800-84596200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:84595200-84596000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:84595400-84595800	Enhancers	NHDF-Ad	bronchial
6	chr9:84596000-84599600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:84596800-84597200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:84596800-84597600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:84597200-84597600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:84597400-84597800	Enhancers	Primary B cells from cord blood	blood

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