Variant report

Variant	nsv890889
Chromosome Location	chr8:51820294-51946827
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	ATF2	chr8:51934062-51934395	GM12878	blood:	n/a	n/a
2	BATF	chr8:51934082-51934330	GM12878	blood:	n/a	chr8:51934250-51934261
3	BATF	chr8:51934115-51934341	GM12878	blood:	n/a	chr8:51934250-51934261
4	BCL11A	chr8:51934103-51934327	GM12878	blood:	n/a	n/a
5	CEBPB	chr8:51853745-51854060	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr8:51853747-51854039	IMR90	lung:	n/a	n/a
7	CEBPB	chr8:51943286-51943588	HepG2	liver:	n/a	n/a
8	CEBPB	chr8:51943318-51943587	IMR90	lung:	n/a	n/a
9	CEBPB	chr8:51853777-51854033	A549	lung:	n/a	n/a
10	CTCF	chr8:51913389-51913420	GM10266	blood:	n/a	n/a
11	CTCF	chr8:51832477-51832604	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr8:51856872-51856953	LNCaP	prostate:	n/a	n/a
13	CTCF	chr8:51860171-51860176	LNCaP	prostate:	n/a	n/a
14	CTCF	chr8:51885340-51885490	Caco-2	colon:	n/a	n/a
15	CTCF	chr8:51856871-51856889	MCF-7	breast:	n/a	n/a
16	CTCF	chr8:51901176-51901215	GM20000	blood:	n/a	n/a
17	CTCF	chr8:51856980-51857130	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:51865763-51865828	GM10266	blood:	n/a	n/a
19	CTCF	chr8:51856671-51856989	T-47D	breast:	n/a	n/a
20	CTCF	chr8:51940220-51940245	Lung_OC	lung:	n/a	n/a
21	E2F4	chr8:51919099-51919441	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr8:51842582-51842805	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr8:51918023-51918214	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr8:51893910-51894441	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr8:51937201-51937571	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr8:51895598-51895784	MCF10A-Er-Src	breast:	n/a	n/a
27	EBF1	chr8:51932957-51933099	GM12878	blood:	n/a	n/a
28	EBF1	chr8:51933670-51934344	GM12878	blood:	n/a	n/a
29	EP300	chr8:51933587-51933907	GM12878	blood:	n/a	n/a
30	EP300	chr8:51934134-51934362	GM12878	blood:	n/a	n/a
31	EP300	chr8:51934100-51934384	GM12878	blood:	n/a	n/a
32	FAM48A	chr8:51879216-51879319	GM12878	blood:	n/a	n/a
33	FAM48A	chr8:51834461-51834598	GM12878	blood:	n/a	n/a
34	FOS	chr8:51891261-51891401	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr8:51842970-51843313	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr8:51842959-51843298	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr8:51842970-51843253	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr8:51841960-51842306	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr8:51842972-51843295	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr8:51841968-51842344	MCF10A-Er-Src	breast:	n/a	n/a
41	FOXM1	chr8:51934060-51934449	GM12878	blood:	n/a	n/a
42	GATA3	chr8:51944746-51945116	MCF-7	breast:	n/a	n/a
43	GATA3	chr8:51894177-51894271	SH-SY5Y	brain:	n/a	n/a
44	IKZF1	chr8:51933649-51934270	GM12878	blood:	n/a	n/a
45	IRF3	chr8:51824975-51825136	GM12878	blood:	n/a	n/a
46	JUN	chr8:51939861-51940026	K562	blood:	n/a	n/a
47	MAFF	chr8:51847802-51847895	HepG2	liver:	n/a	n/a
48	MAFF	chr8:51934142-51934370	HepG2	liver:	n/a	n/a
49	MAFK	chr8:51934155-51934370	HepG2	liver:	n/a	chr8:51934253-51934268
50	MAFK	chr8:51934148-51934405	HepG2	liver:	n/a	chr8:51934253-51934268

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
2	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:

Variant related genes	Relation type
ENSG00000201316	TF binding region

Extended variants
information (count: 454 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116515004	chr8:51823403-51823404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1905529	chr8:51823442-51823443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562896445	chr8:51823462-51823463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530442052	chr8:51823479-51823480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542895300	chr8:51823501-51823502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561058676	chr8:51823580-51823581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528289956	chr8:51823641-51823642	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375391083	chr8:51823679-51823680	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565263552	chr8:51823698-51823699	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72647198	chr8:51823745-51823746	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571477251	chr8:51823756-51823757	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146814644	chr8:51823854-51823855	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183512117	chr8:51823940-51823941	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187717994	chr8:51823969-51823970	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192871249	chr8:51823980-51823981	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556003315	chr8:51823988-51823989	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148988669	chr8:51824035-51824036	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35036316	chr8:51824043-51824044	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553248462	chr8:51824061-51824062	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199903130	chr8:51824159-51824160	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577817705	chr8:51824168-51824169	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35860906	chr8:51824176-51824177	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143755779	chr8:51824229-51824230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553714326	chr8:51824239-51824240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556674244	chr8:51824254-51824255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574874433	chr8:51824268-51824269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34952955	chr8:51824293-51824294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398007764	chr8:51824295-51824296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184964046	chr8:51824337-51824338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532622435	chr8:51824388-51824389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561227094	chr8:51824408-51824409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528334276	chr8:51824423-51824424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190202020	chr8:51824460-51824461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565046044	chr8:51824474-51824475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532361268	chr8:51824508-51824509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148130814	chr8:51824515-51824516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570190705	chr8:51824530-51824531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530930551	chr8:51824587-51824588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181466713	chr8:51824601-51824602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567657328	chr8:51824607-51824608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534957272	chr8:51824621-51824622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546909091	chr8:51824635-51824636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371274520	chr8:51824660-51824661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112638556	chr8:51824718-51824719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538876407	chr8:51824732-51824733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77689485	chr8:51824845-51824846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184544534	chr8:51824884-51824885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575036052	chr8:51824897-51824898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189351025	chr8:51824929-51824930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141109094	chr8:51824935-51824936	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51823400-51823600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:51823600-51824200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:51823600-51824200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:51824200-51825000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:51834200-51836800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:51836200-51836600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:51842200-51842800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:51846800-51847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:51857000-51859400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:51885000-51885400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:51885200-51886000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:51897800-51899000	Enhancers	Dnd41	blood
13	chr8:51932000-51932200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:51933200-51933400	Active TSS	GM12878-XiMat	blood
15	chr8:51933400-51933600	Flanking Active TSS	GM12878-XiMat	blood
16	chr8:51933600-51933800	ZNF genes & repeats	GM12878-XiMat	blood
17	chr8:51933600-51934200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:51933800-51934000	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:51944600-51945000	Enhancers	Adipose Nuclei	Adipose

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