Variant report

Variant	nsv890892
Chromosome Location	chr8:51846792-51946827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

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	chr8:51934115-51934341	GM12878	blood:	n/a	chr8:51934250-51934261
3	BATF	chr8:51934082-51934330	GM12878	blood:	n/a	chr8:51934250-51934261
4	BCL11A	chr8:51934103-51934327	GM12878	blood:	n/a	n/a
5	CEBPB	chr8:51853747-51854039	IMR90	lung:	n/a	n/a
6	CEBPB	chr8:51853777-51854033	A549	lung:	n/a	n/a
7	CEBPB	chr8:51943286-51943588	HepG2	liver:	n/a	n/a
8	CEBPB	chr8:51853745-51854060	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr8:51943318-51943587	IMR90	lung:	n/a	n/a
10	CTCF	chr8:51856872-51856953	LNCaP	prostate:	n/a	n/a
11	CTCF	chr8:51856980-51857130	MCF-7	breast:	n/a	n/a
12	CTCF	chr8:51885340-51885490	Caco-2	colon:	n/a	n/a
13	CTCF	chr8:51860171-51860176	LNCaP	prostate:	n/a	n/a
14	CTCF	chr8:51901176-51901215	GM20000	blood:	n/a	n/a
15	CTCF	chr8:51913389-51913420	GM10266	blood:	n/a	n/a
16	CTCF	chr8:51856871-51856889	MCF-7	breast:	n/a	n/a
17	CTCF	chr8:51865763-51865828	GM10266	blood:	n/a	n/a
18	CTCF	chr8:51940220-51940245	Lung_OC	lung:	n/a	n/a
19	CTCF	chr8:51856671-51856989	T-47D	breast:	n/a	n/a
20	E2F4	chr8:51937201-51937571	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr8:51895598-51895784	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr8:51919099-51919441	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr8:51893910-51894441	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr8:51918023-51918214	MCF10A-Er-Src	breast:	n/a	n/a
25	EBF1	chr8:51932957-51933099	GM12878	blood:	n/a	n/a
26	EBF1	chr8:51933670-51934344	GM12878	blood:	n/a	n/a
27	EP300	chr8:51934100-51934384	GM12878	blood:	n/a	n/a
28	EP300	chr8:51933587-51933907	GM12878	blood:	n/a	n/a
29	EP300	chr8:51934134-51934362	GM12878	blood:	n/a	n/a
30	FAM48A	chr8:51879216-51879319	GM12878	blood:	n/a	n/a
31	FOS	chr8:51891261-51891401	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXM1	chr8:51934060-51934449	GM12878	blood:	n/a	n/a
33	GATA3	chr8:51944746-51945116	MCF-7	breast:	n/a	n/a
34	GATA3	chr8:51894177-51894271	SH-SY5Y	brain:	n/a	n/a
35	IKZF1	chr8:51933649-51934270	GM12878	blood:	n/a	n/a
36	JUN	chr8:51939861-51940026	K562	blood:	n/a	n/a
37	MAFF	chr8:51847802-51847895	HepG2	liver:	n/a	n/a
38	MAFF	chr8:51934142-51934370	HepG2	liver:	n/a	n/a
39	MAFK	chr8:51926513-51926537	K562	blood:	n/a	n/a
40	MAFK	chr8:51934148-51934405	HepG2	liver:	n/a	chr8:51934253-51934268
41	MAFK	chr8:51934096-51934318	H1-hESC	embryonic stem cell:	n/a	chr8:51934253-51934268
42	MAFK	chr8:51905888-51906021	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAFK	chr8:51934155-51934370	HepG2	liver:	n/a	chr8:51934253-51934268
44	MAZ	chr8:51896730-51896733	HepG2	liver:	n/a	n/a
45	MAZ	chr8:51853064-51853065	HepG2	liver:	n/a	n/a
46	MAZ	chr8:51848045-51848060	HepG2	liver:	n/a	n/a
47	MXI1	chr8:51934211-51934263	GM12878	blood:	n/a	n/a
48	MYC	chr8:51904785-51904938	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr8:51933173-51933533	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr8:51904905-51904933	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
ENSG00000201316	TF binding region

Extended variants
information (count: 294 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538472673	chr8:51846843-51846844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558690212	chr8:51846845-51846846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193113856	chr8:51846859-51846860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377148304	chr8:51846863-51846864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553159487	chr8:51846879-51846880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575614156	chr8:51846901-51846902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146400759	chr8:51846906-51846907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373691685	chr8:51846910-51846911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555070004	chr8:51846927-51846928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184406023	chr8:51846951-51846952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115611568	chr8:51846967-51846968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189278341	chr8:51846973-51846974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139748821	chr8:51846982-51846983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544507992	chr8:51847036-51847037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577942960	chr8:51847066-51847067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs118055795	chr8:51847111-51847112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574463028	chr8:51847156-51847157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7829558	chr8:51847173-51847174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192946743	chr8:51857010-51857011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184476202	chr8:51857022-51857023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576811486	chr8:51857030-51857031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543872729	chr8:51857070-51857071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554649901	chr8:51857071-51857072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73576100	chr8:51857076-51857077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73576101	chr8:51857088-51857089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189176997	chr8:51857177-51857178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559949884	chr8:51857178-51857179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528544419	chr8:51857188-51857189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555424344	chr8:51857190-51857191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571544150	chr8:51857214-51857215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532498306	chr8:51857217-51857218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73578005	chr8:51857296-51857297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569508757	chr8:51857313-51857314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370806370	chr8:51857315-51857316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555177212	chr8:51857363-51857364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114439138	chr8:51857365-51857366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142758144	chr8:51857373-51857374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79448196	chr8:51857389-51857390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576867187	chr8:51857444-51857445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201160253	chr8:51857446-51857447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147376587	chr8:51857450-51857451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181911624	chr8:51857499-51857500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574376027	chr8:51857521-51857522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578202595	chr8:51857538-51857539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541750767	chr8:51857554-51857555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374580520	chr8:51857571-51857572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578253849	chr8:51857590-51857591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544116839	chr8:51857595-51857596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559914754	chr8:51857598-51857599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527525058	chr8:51857614-51857615	Weak transcription	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51846800-51847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:51857000-51859400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:51885000-51885400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:51885200-51886000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:51897800-51899000	Enhancers	Dnd41	blood
6	chr8:51932000-51932200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:51933200-51933400	Active TSS	GM12878-XiMat	blood
8	chr8:51933400-51933600	Flanking Active TSS	GM12878-XiMat	blood
9	chr8:51933600-51933800	ZNF genes & repeats	GM12878-XiMat	blood
10	chr8:51933600-51934200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:51933800-51934000	Flanking Active TSS	GM12878-XiMat	blood
12	chr8:51944600-51945000	Enhancers	Adipose Nuclei	Adipose

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