Variant report

Variant	nsv982136
Chromosome Location	chr8:62816124-62828493
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	ARID3A	chr8:62826142-62826284	HepG2	liver:	n/a	n/a
2	ATF3	chr8:62826043-62826345	K562	blood:	n/a	n/a
3	BRCA1	chr8:62826026-62826395	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:62826079-62826426	K562	blood:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
5	CEBPB	chr8:62826082-62826392	A549	lung:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
6	CEBPB	chr8:62827072-62827128	HepG2	liver:	n/a	n/a
7	CEBPB	chr8:62826048-62826471	MCF-7	breast:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
8	CEBPB	chr8:62826118-62826406	HepG2	liver:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
9	CEBPB	chr8:62826081-62826354	H1-hESC	embryonic stem cell:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
10	CEBPB	chr8:62826103-62826449	A549	lung:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
11	CEBPB	chr8:62826062-62826429	MCF-7	breast:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
12	CEBPB	chr8:62826006-62826427	K562	blood:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
13	CEBPB	chr8:62826058-62826434	K562	blood:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
14	CEBPB	chr8:62826040-62826449	HepG2	liver:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
15	CEBPB	chr8:62826117-62826311	HepG2	liver:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
16	CEBPB	chr8:62826062-62826435	HepG2	liver:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
17	CEBPB	chr8:62825950-62826476	Hela-S3	cervix:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
18	CHD2	chr8:62826022-62826380	Hela-S3	cervix:	n/a	n/a
19	ELK1	chr8:62826104-62826382	Hela-S3	cervix:	n/a	n/a
20	EP300	chr8:62828397-62828597	Hela-S3	cervix:	n/a	chr8:62828465-62828478
21	EP300	chr8:62825909-62826435	Hela-S3	cervix:	n/a	chr8:62826254-62826268
22	FOS	chr8:62818104-62818150	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr8:62818034-62818328	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr8:62817996-62818328	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr8:62826004-62826077	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr8:62818009-62818328	MCF10A-Er-Src	breast:	n/a	n/a
27	GATA2	chr8:62826063-62826398	SH-SY5Y	brain:	n/a	chr8:62826194-62826204
28	GATA3	chr8:62825974-62826446	MCF-7	breast:	n/a	chr8:62826194-62826204
29	GTF2F1	chr8:62826050-62826466	Hela-S3	cervix:	n/a	n/a
30	IRF1	chr8:62825062-62825064	K562	blood:	n/a	n/a
31	JUND	chr8:62825986-62826566	Hela-S3	cervix:	n/a	n/a
32	JUND	chr8:62826084-62826336	K562	blood:	n/a	n/a
33	KAP1	chr8:62825861-62826420	U2OS	brain:	n/a	n/a
34	MAX	chr8:62825894-62826380	Hela-S3	cervix:	n/a	chr8:62826213-62826222
35	MAZ	chr8:62826775-62826910	Hela-S3	cervix:	n/a	n/a
36	MYC	chr8:62826186-62826386	K562	blood:	n/a	chr8:62826213-62826222
37	MYC	chr8:62826249-62826258	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr8:62817836-62817916	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr8:62823884-62823887	MCF-7	breast:	n/a	n/a
40	POLR2A	chr8:62824739-62824939	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr8:62820015-62820057	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr8:62817202-62817373	MCF10A-Er-Src	breast:	n/a	n/a
43	RAD21	chr8:62825922-62826437	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr8:62826080-62826391	K562	blood:	n/a	n/a
45	RCOR1	chr8:62828396-62828570	Hela-S3	cervix:	n/a	n/a
46	RCOR1	chr8:62826015-62826408	Hela-S3	cervix:	n/a	n/a
47	RFX5	chr8:62825998-62826420	Hela-S3	cervix:	n/a	n/a
48	SMC3	chr8:62826018-62826477	Hela-S3	cervix:	n/a	n/a
49	STAT3	chr8:62825967-62826375	Hela-S3	cervix:	n/a	n/a
50	STAT3	chr8:62828370-62828632	MCF10A-Er-Src	breast:	n/a	chr8:62828533-62828544

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:62825339-62825389	SK-N-MC	brain:	n/a
2	chr8:62823894-62823944	HCPEpiC	choroid plexus:	n/a
3	chr8:62823894-62823944	GM19239	blood:	n/a
4	chr8:62825339-62825389	HUVEC	blood vessel:	n/a
5	chr8:62823833-62823883	HUVEC	blood vessel:	n/a
6	chr8:62825339-62825389	NHDF-neo	bronchial:	n/a
7	chr8:62823833-62823883	AG09309	skin:	n/a
8	chr8:62823815-62823865	NHBE	bronchial:	n/a
9	chr8:62825339-62825389	RPTEC	kidney:	n/a
10	chr8:62823894-62823944	AG09319	gingival:	n/a
11	chr8:62825339-62825389	AG04450	lung:	fetal
12	chr8:62823815-62823865	HCT-116	colon:	n/a
13	chr8:62823815-62823865	PFSK-1	brain:	n/a
14	chr8:62823815-62823865	HMEC	breast:	n/a
15	chr8:62825339-62825389	HL-60	blood:	n/a
16	chr8:62823894-62823944	HCT-116	colon:	n/a
17	chr8:62825339-62825389	HEEpiC	esophagus:	n/a
18	chr8:62823815-62823865	ProgFib	skin:	n/a
19	chr8:62823894-62823944	K562	blood:	n/a
20	chr8:62823894-62823944	HUVEC	blood vessel:	n/a
21	chr8:62823833-62823883	HRCEpiC	kidney:	n/a
22	chr8:62823833-62823883	U87	brain:	n/a
23	chr8:62823894-62823944	SK-N-SH	brain:	n/a
24	chr8:62825339-62825389	IMR90	lung:	fetal
25	chr8:62823815-62823865	PrEC	prostate:	n/a
26	chr8:62825339-62825389	HCT-116	colon:	n/a
27	chr8:62823833-62823883	HEK293	kidney:	embryo
28	chr8:62823833-62823883	NT2-D1	testis:	n/a
29	chr8:62823815-62823865	GM12891	blood:	n/a
30	chr8:62825339-62825389	PANC-1	pancreas:	n/a
31	chr8:62823894-62823944	GM12891	blood:	n/a
32	chr8:62823894-62823944	IMR90	lung:	fetal
33	chr8:62825339-62825389	SK-N-SH_RA	brain:	n/a
34	chr8:62823815-62823865	Jurkat	blood:	n/a
35	chr8:62825339-62825389	ECC-1	luminal epithelium:	n/a
36	chr8:62825339-62825389	GM12878	blood:	n/a
37	chr8:62823833-62823883	PrEC	prostate:	n/a
38	chr8:62823833-62823883	HCT-116	colon:	n/a
39	chr8:62823833-62823883	IMR90	lung:	fetal
40	chr8:62823894-62823944	HRE	kidney:	n/a
41	chr8:62823815-62823865	Hepatocyte	liver:	n/a
42	chr8:62823815-62823865	HepG2	liver:	n/a
43	chr8:62823894-62823944	HNPCEpiC	eye:	n/a
44	chr8:62823815-62823865	AoSMC	blood vessel:	n/a
45	chr8:62823833-62823883	NH-A	brain:	n/a
46	chr8:62825339-62825389	PrEC	prostate:	n/a
47	chr8:62823815-62823865	A549	lung:	n/a
48	chr8:62823894-62823944	SK-N-MC	brain:	n/a
49	chr8:62823815-62823865	GM19239	blood:	n/a
50	chr8:62823815-62823865	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62815283..62816844-chr8:62823393..62825914,2	K562	blood:
2	chr8:62826515..62828032-chr8:62828299..62830698,2	MCF-7	breast:
3	chr8:62826515..62828032-chr8:62828299..62830698,2	MCF-7	breast:
4	chr8:62770464..62772123-chr8:62826774..62828899,2	K562	blood:
5	chr8:62817790..62821820-chr8:62830855..62832666,3	K562	blood:
6	chr8:62815283..62816844-chr8:62823393..62825914,2	K562	blood:

Variant related genes	Relation type
ENSG00000253544	TF binding region
ENSG00000253544	CpG island

Extended variants
information (count: 194 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181844818	chr8:62817808-62817809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62507591	chr8:62817820-62817821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559839148	chr8:62817847-62817848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148240435	chr8:62817867-62817868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530768749	chr8:62817875-62817876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542225963	chr8:62817880-62817881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141379457	chr8:62817899-62817900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531911637	chr8:62817903-62817904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570977221	chr8:62817904-62817905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185112980	chr8:62817955-62817956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565323025	chr8:62817959-62817960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548287247	chr8:62818200-62818201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371294502	chr8:62818207-62818208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139501195	chr8:62818358-62818359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530199031	chr8:62818372-62818373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556435526	chr8:62818387-62818388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7813290	chr8:62818397-62818398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs566633528	chr8:62818404-62818405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538451279	chr8:62818438-62818439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553411530	chr8:62818473-62818474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58381197	chr8:62818488-62818489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73255183	chr8:62818529-62818530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72662649	chr8:62818664-62818665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576025109	chr8:62818678-62818679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145029510	chr8:62818793-62818794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565573828	chr8:62818820-62818821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532710739	chr8:62818900-62818901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114558311	chr8:62818922-62818923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560032408	chr8:62818985-62818986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115798441	chr8:62823831-62823832	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs116260687	chr8:62823857-62823858	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs556710070	chr8:62823866-62823867	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs147146667	chr8:62823872-62823873	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs148606454	chr8:62823878-62823879	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs558045897	chr8:62823917-62823918	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs573167225	chr8:62823924-62823925	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs187589831	chr8:62823925-62823926	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs555254131	chr8:62823927-62823928	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs573794484	chr8:62823932-62823933	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs543941527	chr8:62823938-62823939	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs562244871	chr8:62823946-62823947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77418858	chr8:62823958-62823959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544595946	chr8:62823984-62823985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192921217	chr8:62823990-62823991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527957963	chr8:62824031-62824032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548428894	chr8:62824042-62824043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549687030	chr8:62824084-62824085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16918891	chr8:62824086-62824087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71513472	chr8:62824164-62824165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531955836	chr8:62824177-62824178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62817800-62818000	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr8:62818200-62819000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:62823800-62824000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:62823800-62824000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:62823800-62824000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:62823800-62824600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:62823800-62826200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:62824000-62824200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:62824000-62824800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:62824000-62825000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:62824000-62826200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:62824000-62826400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:62824000-62826600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:62824200-62825400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:62824200-62825400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:62824600-62825600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:62824800-62825800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr8:62824800-62826600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:62825000-62826000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:62825000-62826000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr8:62825200-62825800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:62825200-62827200	Enhancers	Hela-S3	cervix
23	chr8:62825400-62825800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:62825400-62826200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr8:62825400-62826200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:62825400-62826400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:62825600-62826600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:62825800-62826400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:62826000-62826200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:62826200-62827000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:62826600-62827800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:62826600-62828200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:62827000-62827200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr8:62827200-62828400	Weak transcription	Hela-S3	cervix

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