Variant report

Variant	nsv1034058
Chromosome Location	chr8:51907530-51996075
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	BACH1	chr8:51969835-51969916	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:51971660-51971674	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr8:51934115-51934341	GM12878	blood:	n/a	chr8:51934250-51934261
5	BATF	chr8:51934082-51934330	GM12878	blood:	n/a	chr8:51934250-51934261
6	BCL11A	chr8:51934103-51934327	GM12878	blood:	n/a	n/a
7	CEBPB	chr8:51995419-51995546	H1-hESC	embryonic stem cell:	n/a	chr8:51995490-51995501
8	CEBPB	chr8:51995356-51995614	K562	blood:	n/a	chr8:51995490-51995501
9	CEBPB	chr8:51943318-51943587	IMR90	lung:	n/a	n/a
10	CEBPB	chr8:51949260-51949581	HepG2	liver:	n/a	n/a
11	CEBPB	chr8:51943286-51943588	HepG2	liver:	n/a	n/a
12	CEBPB	chr8:51995328-51995636	IMR90	lung:	n/a	chr8:51995490-51995501
13	CEBPB	chr8:51977057-51977338	HepG2	liver:	n/a	chr8:51977198-51977209
14	CEBPB	chr8:51995320-51995560	HepG2	liver:	n/a	chr8:51995490-51995501
15	CEBPB	chr8:51950503-51951199	IMR90	lung:	n/a	chr8:51950581-51950592 chr8:51950579-51950592 chr8:51950579-51950592 chr8:51950581-51950592 chr8:51951003-51951012 chr8:51950576-51950593 chr8:51951001-51951014 chr8:51951001-51951012
16	CEBPB	chr8:51949273-51949609	IMR90	lung:	n/a	n/a
17	CEBPB	chr8:51949282-51949619	A549	lung:	n/a	n/a
18	CEBPB	chr8:51949299-51949587	MCF-7	breast:	n/a	n/a
19	CEBPB	chr8:51950948-51951182	HepG2	liver:	n/a	chr8:51951003-51951012 chr8:51951001-51951014 chr8:51951001-51951012
20	CEBPB	chr8:51977144-51977291	A549	lung:	n/a	chr8:51977198-51977209
21	CTCF	chr8:51956514-51956720	IMR90	lung:	n/a	n/a
22	CTCF	chr8:51956440-51956590	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr8:51956440-51956590	HMF	breast:	n/a	n/a
24	CTCF	chr8:51956420-51956570	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr8:51913389-51913420	GM10266	blood:	n/a	n/a
26	CTCF	chr8:51956480-51956630	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr8:51956500-51956650	NHEK	skin:	n/a	n/a
28	CTCF	chr8:51956480-51956630	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr8:51956520-51956670	HFF	foreskin:	n/a	n/a
30	CTCF	chr8:51956460-51956610	HAc	cerebellar:	n/a	n/a
31	CTCF	chr8:51956460-51956610	AG09309	skin:	n/a	n/a
32	CTCF	chr8:51956506-51956617	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr8:51960660-51960810	HAc	cerebellar:	n/a	n/a
34	CTCF	chr8:51940220-51940245	Lung_OC	lung:	n/a	n/a
35	CTCF	chr8:51956487-51956603	Gliobla	brain:	n/a	n/a
36	CTCF	chr8:51956520-51956670	HPAF	blood vessel:	n/a	n/a
37	E2F4	chr8:51956420-51957015	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr8:51957637-51957816	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr8:51919099-51919441	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr8:51937201-51937571	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr8:51918023-51918214	MCF10A-Er-Src	breast:	n/a	n/a
42	EBF1	chr8:51967642-51967682	GM12878	blood:	n/a	n/a
43	EBF1	chr8:51932957-51933099	GM12878	blood:	n/a	n/a
44	EBF1	chr8:51933670-51934344	GM12878	blood:	n/a	n/a
45	EP300	chr8:51934134-51934362	GM12878	blood:	n/a	n/a
46	EP300	chr8:51934100-51934384	GM12878	blood:	n/a	n/a
47	EP300	chr8:51979118-51979210	GM12878	blood:	n/a	n/a
48	EP300	chr8:51933587-51933907	GM12878	blood:	n/a	n/a
49	EP300	chr8:51947120-51948021	SK-N-SH	brain:	n/a	n/a
50	EP300	chr8:51947376-51947680	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51957221..51959868-chr8:51967147..51969241,2	MCF-7	breast:
2	chr8:51957221..51959868-chr8:51967147..51969241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201316	TF binding region

Extended variants
information (count: 414 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:414 , 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	rs537529273	chr8:51926516-51926517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs555286238	chr8:51926518-51926519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs6998342	chr8:51926533-51926534	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550975783	chr8:51932055-51932056	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs76672651	chr8:51932056-51932057	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs375606532	chr8:51932079-51932080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368320452	chr8:51932086-51932087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs530715102	chr8:51932112-51932113	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs184748659	chr8:51932152-51932153	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189063913	chr8:51932194-51932195	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs534855579	chr8:51932200-51932201	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534943175	chr8:51933214-51933215	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs553151852	chr8:51933215-51933216	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs577860825	chr8:51933361-51933362	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs545189491	chr8:51933397-51933398	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563079483	chr8:51933426-51933427	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575230199	chr8:51933428-51933429	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs375024358	chr8:51933440-51933441	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs184303668	chr8:51933454-51933455	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370743862	chr8:51933544-51933545	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs75458919	chr8:51933614-51933615	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78092404	chr8:51933633-51933634	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546870693	chr8:51933649-51933650	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565177014	chr8:51933650-51933651	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201106088	chr8:51933705-51933706	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs11782445	chr8:51933728-51933729	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550772507	chr8:51933775-51933776	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570154771	chr8:51933793-51933794	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs537115508	chr8:51933802-51933803	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs139878127	chr8:51933804-51933805	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs117348599	chr8:51933810-51933811	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs114037509	chr8:51933835-51933836	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553290779	chr8:51933849-51933850	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs370097811	chr8:51933886-51933887	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs572911232	chr8:51933895-51933896	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs577903994	chr8:51933900-51933901	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558057450	chr8:51933922-51933923	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs144952910	chr8:51933953-51933954	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs35689808	chr8:51933955-51933956	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs188786620	chr8:51934022-51934023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575316801	chr8:51934055-51934056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373422927	chr8:51934070-51934071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147952236	chr8:51934075-51934076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560943207	chr8:51934107-51934108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577143185	chr8:51934111-51934112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141819895	chr8:51934115-51934116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181566163	chr8:51934129-51934130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371666275	chr8:51934152-51934153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73584083	chr8:51934160-51934161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7000380	chr8:51944616-51944617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51932000-51932200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:51933200-51933400	Active TSS	GM12878-XiMat	blood
3	chr8:51933400-51933600	Flanking Active TSS	GM12878-XiMat	blood
4	chr8:51933600-51933800	ZNF genes & repeats	GM12878-XiMat	blood
5	chr8:51933600-51934200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:51933800-51934000	Flanking Active TSS	GM12878-XiMat	blood
7	chr8:51944600-51945000	Enhancers	Adipose Nuclei	Adipose
8	chr8:51947600-51949000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:51948200-51948800	Enhancers	NH-A	brain
10	chr8:51955800-51957600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:51956000-51957800	Enhancers	NH-A	brain
12	chr8:51956600-51957800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:51959000-51959600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:51966400-51966600	Enhancers	Esophagus	oesophagus
15	chr8:51966400-51968600	Weak transcription	Gastric	stomach
16	chr8:51968600-51968800	ZNF genes & repeats	Gastric	stomach
17	chr8:51968600-51968800	ZNF genes & repeats	Pancreas	Pancrea
18	chr8:51971400-51972400	Enhancers	Dnd41	blood
19	chr8:51971800-51972200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:51971800-51972200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:51972000-51972400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:51972000-51972400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:51986000-51986400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:51990600-51991000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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