Variant report

Variant	nsv890890
Chromosome Location	chr8:51827773-51946827
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	chr8:51943286-51943588	HepG2	liver:	n/a	n/a
6	CEBPB	chr8:51943318-51943587	IMR90	lung:	n/a	n/a
7	CEBPB	chr8:51853747-51854039	IMR90	lung:	n/a	n/a
8	CEBPB	chr8:51853777-51854033	A549	lung:	n/a	n/a
9	CEBPB	chr8:51853745-51854060	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:51913389-51913420	GM10266	blood:	n/a	n/a
11	CTCF	chr8:51865763-51865828	GM10266	blood:	n/a	n/a
12	CTCF	chr8:51856980-51857130	MCF-7	breast:	n/a	n/a
13	CTCF	chr8:51832477-51832604	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr8:51856872-51856953	LNCaP	prostate:	n/a	n/a
15	CTCF	chr8:51901176-51901215	GM20000	blood:	n/a	n/a
16	CTCF	chr8:51860171-51860176	LNCaP	prostate:	n/a	n/a
17	CTCF	chr8:51940220-51940245	Lung_OC	lung:	n/a	n/a
18	CTCF	chr8:51885340-51885490	Caco-2	colon:	n/a	n/a
19	CTCF	chr8:51856871-51856889	MCF-7	breast:	n/a	n/a
20	CTCF	chr8:51856671-51856989	T-47D	breast:	n/a	n/a
21	E2F4	chr8:51919099-51919441	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr8:51918023-51918214	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr8:51895598-51895784	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	chr8:51842582-51842805	MCF10A-Er-Src	breast:	n/a	n/a
27	EBF1	chr8:51933670-51934344	GM12878	blood:	n/a	n/a
28	EBF1	chr8:51932957-51933099	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	chr8:51834461-51834598	GM12878	blood:	n/a	n/a
33	FAM48A	chr8:51879216-51879319	GM12878	blood:	n/a	n/a
34	FOS	chr8:51842970-51843313	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr8:51842972-51843295	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr8:51891261-51891401	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr8:51842970-51843253	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr8:51841968-51842344	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr8:51842959-51843298	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr8:51841960-51842306	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	JUN	chr8:51939861-51940026	K562	blood:	n/a	n/a
46	MAFF	chr8:51934142-51934370	HepG2	liver:	n/a	n/a
47	MAFF	chr8:51847802-51847895	HepG2	liver:	n/a	n/a
48	MAFK	chr8:51934148-51934405	HepG2	liver:	n/a	chr8:51934253-51934268
49	MAFK	chr8:51926513-51926537	K562	blood:	n/a	n/a
50	MAFK	chr8:51934155-51934370	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: 402 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544958527	chr8:51834233-51834234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188118114	chr8:51834238-51834239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140121547	chr8:51834255-51834256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542804389	chr8:51834260-51834261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561067219	chr8:51834267-51834268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150293175	chr8:51834275-51834276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547929754	chr8:51834316-51834317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559474456	chr8:51834411-51834412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79063463	chr8:51834422-51834423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191127373	chr8:51834512-51834513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570364937	chr8:51834525-51834526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531117101	chr8:51834557-51834558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549117831	chr8:51834565-51834566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567540868	chr8:51834618-51834619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144875385	chr8:51834660-51834661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73576043	chr8:51834694-51834695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183630388	chr8:51834699-51834700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73576044	chr8:51834705-51834706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556692120	chr8:51834744-51834745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575449024	chr8:51834809-51834810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35654157	chr8:51834838-51834839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs372003418	chr8:51834845-51834846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554772197	chr8:51834880-51834881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10504109	chr8:51834885-51834886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73679933	chr8:51834899-51834900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112699737	chr8:51834916-51834917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570229181	chr8:51834927-51834928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11781388	chr8:51834970-51834971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188436351	chr8:51834987-51834988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181444930	chr8:51834991-51834992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535862956	chr8:51835030-51835031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186684564	chr8:51835063-51835064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549283520	chr8:51835122-51835123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11780693	chr8:51835145-51835146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528688958	chr8:51835258-51835259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200358042	chr8:51835333-51835334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139637197	chr8:51835336-51835337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200821461	chr8:51835337-51835338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs202013161	chr8:51835338-51835339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34798094	chr8:51835339-51835340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77209377	chr8:51835363-51835364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79004770	chr8:51835452-51835453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140929636	chr8:51835573-51835574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556887280	chr8:51835592-51835593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190340796	chr8:51835598-51835599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536533210	chr8:51835604-51835605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554928697	chr8:51835611-51835612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6980934	chr8:51835619-51835620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564171645	chr8:51835628-51835629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73679936	chr8:51835662-51835663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:15 , 50 per page) page: 1

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

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