Variant report

Variant	esv3329140
Chromosome Location	chr8:115253761-115299723
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	BATF	chr8:115281695-115281857	GM12878	blood:	n/a	n/a
2	BATF	chr8:115282793-115283090	GM12878	blood:	n/a	n/a
3	BHLHE40	chr8:115282801-115283059	GM12878	blood:	n/a	n/a
4	BHLHE40	chr8:115281742-115281877	GM12878	blood:	n/a	n/a
5	CEBPB	chr8:115265626-115265991	A549	lung:	n/a	chr8:115265672-115265683
6	CEBPB	chr8:115281647-115281934	HepG2	liver:	n/a	chr8:115281760-115281771
7	CEBPB	chr8:115265601-115265931	IMR90	lung:	n/a	chr8:115265672-115265683
8	CEBPB	chr8:115261940-115262622	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr8:115265592-115266087	Hela-S3	cervix:	n/a	chr8:115265672-115265683
10	CEBPB	chr8:115265560-115265854	HepG2	liver:	n/a	chr8:115265672-115265683
11	CHD1	chr8:115296505-115296527	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:115296651-115296744	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr8:115295755-115295800	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr8:115254132-115254203	GM10248	blood:	n/a	n/a
15	CTCF	chr8:115282928-115283028	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr8:115265195-115265257	Lung_OC	lung:	n/a	n/a
17	CTCF	chr8:115290015-115290102	ProgFib	skin:	n/a	n/a
18	CUX1	chr8:115274076-115274582	GM12878	blood:	n/a	chr8:115274457-115274466
19	E2F4	chr8:115286806-115286814	MCF10A-Er-Src	breast:	n/a	n/a
20	EBF1	chr8:115274820-115275515	GM12878	blood:	n/a	n/a
21	EBF1	chr8:115282971-115283192	GM12878	blood:	n/a	n/a
22	EBF1	chr8:115281748-115281898	GM12878	blood:	n/a	n/a
23	EP300	chr8:115274202-115274458	GM12878	blood:	n/a	chr8:115274390-115274404
24	FOS	chr8:115265781-115265991	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr8:115265779-115265985	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr8:115273805-115274152	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr8:115273776-115274406	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr8:115265718-115266027	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr8:115273800-115274159	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr8:115273745-115274397	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA2	chr8:115258226-115258502	A549	lung:	n/a	n/a
32	FOXA2	chr8:115258159-115258556	A549	lung:	n/a	n/a
33	FOXA2	chr8:115298804-115299209	A549	lung:	n/a	n/a
34	GATA3	chr8:115262342-115262463	MCF-7	breast:	n/a	n/a
35	GATA3	chr8:115262263-115262717	MCF-7	breast:	n/a	n/a
36	JUN	chr8:115279609-115279785	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr8:115273942-115274035	HepG2	liver:	n/a	chr8:115273950-115273961 chr8:115273978-115273989
38	MAFK	chr8:115286722-115287042	HepG2	liver:	n/a	chr8:115286867-115286881 chr8:115286868-115286879 chr8:115286868-115286879 chr8:115286869-115286880 chr8:115286869-115286880
39	MAFK	chr8:115286519-115286663	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAFK	chr8:115272223-115272328	HepG2	liver:	n/a	n/a
41	MAZ	chr8:115261115-115261128	HepG2	liver:	n/a	n/a
42	MEF2A	chr8:115274146-115274477	GM12878	blood:	n/a	n/a
43	MYC	chr8:115275782-115275894	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYC	chr8:115267324-115267330	MCF-7	breast:	n/a	n/a
45	MYC	chr8:115267357-115267428	MCF-7	breast:	n/a	n/a
46	MYC	chr8:115267346-115267357	MCF-7	breast:	n/a	n/a
47	MYC	chr8:115273857-115274050	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr8:115267304-115267306	MCF-7	breast:	n/a	n/a
49	MYC	chr8:115267263-115267277	MCF-7	breast:	n/a	n/a
50	MYC	chr8:115267286-115267302	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000254339	TF binding region

Extended variants
information (count: 1466 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185726607	chr8:115253762-115253763	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565924096	chr8:115253834-115253835	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553673362	chr8:115253840-115253841	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529935509	chr8:115253854-115253855	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548507593	chr8:115253862-115253863	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149647576	chr8:115253864-115253865	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537065234	chr8:115253871-115253872	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375383829	chr8:115253883-115253884	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs570617305	chr8:115253885-115253886	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs143404249	chr8:115253889-115253890	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs553283190	chr8:115253935-115253936	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575023347	chr8:115253938-115253939	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368381439	chr8:115253971-115253972	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376449757	chr8:115253991-115253992	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9649942	chr8:115253992-115253993	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576072717	chr8:115254028-115254029	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560491707	chr8:115254058-115254059	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529356397	chr8:115254079-115254080	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543037423	chr8:115254096-115254097	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562996194	chr8:115254097-115254098	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs190240613	chr8:115254122-115254123	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532252429	chr8:115254126-115254127	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs192963331	chr8:115254156-115254157	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531800713	chr8:115254157-115254158	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs559277118	chr8:115254170-115254171	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529924562	chr8:115254257-115254258	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368268699	chr8:115254271-115254272	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs7004126	chr8:115254276-115254277	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563267310	chr8:115254293-115254294	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571378549	chr8:115254307-115254308	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113857412	chr8:115254348-115254349	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs552165494	chr8:115254350-115254351	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570553401	chr8:115254357-115254358	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs386728957	chr8:115254368-115254369	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs11991833	chr8:115254369-115254370	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568546586	chr8:115254376-115254377	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs367688723	chr8:115254395-115254396	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547333916	chr8:115254402-115254403	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12766436	chr8:115254438-115254439	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557342275	chr8:115254454-115254455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576010036	chr8:115254467-115254468	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs537003833	chr8:115254483-115254484	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs372312843	chr8:115254491-115254492	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs567213857	chr8:115254513-115254514	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs576958837	chr8:115254518-115254519	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540745549	chr8:115254550-115254551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181268139	chr8:115254566-115254567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76509649	chr8:115254590-115254591	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs77240580	chr8:115254591-115254592	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111613140	chr8:115254596-115254597	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Glioblastoma multiforme	21080181	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115252800-115253800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:115253600-115257200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:115253800-115254400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:115254400-115255400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:115254600-115255000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:115254600-115255400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:115255000-115259400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:115255400-115256400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:115255400-115259400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:115256400-115257200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr8:115257200-115259400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:115259400-115259800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:115259400-115259800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:115259400-115260000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:115259400-115260200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:115259400-115260200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:115259400-115260200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:115259600-115260000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:115259800-115260000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:115259800-115260400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr8:115260000-115260400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:115260000-115260400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:115260000-115260400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr8:115260200-115269200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:115260400-115261000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:115260400-115261600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:115260400-115267200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:115261000-115261600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:115261200-115262200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr8:115261600-115262200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:115261800-115262000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:115261800-115262800	Enhancers	Hela-S3	cervix
33	chr8:115262000-115262600	Enhancers	Dnd41	blood
34	chr8:115262600-115267000	Weak transcription	Dnd41	blood
35	chr8:115267000-115267400	ZNF genes & repeats	Spleen	Spleen
36	chr8:115267000-115268000	ZNF genes & repeats	Dnd41	blood
37	chr8:115267200-115267600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr8:115267200-115267600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:115273600-115274000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:115277200-115277600	Enhancers	Liver	Liver
41	chr8:115278000-115278400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:115278400-115281800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:115281800-115282000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:115288200-115290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:115290600-115293000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:115291200-115292400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:115291200-115292400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:115291200-115293600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:115291600-115293000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:115291800-115292200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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