Variant report

Variant	nsv1034877
Chromosome Location	chr8:115260270-115292920
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	chr8:115281742-115281877	GM12878	blood:	n/a	n/a
4	BHLHE40	chr8:115282801-115283059	GM12878	blood:	n/a	n/a
5	CEBPB	chr8:115265560-115265854	HepG2	liver:	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	chr8:115265626-115265991	A549	lung:	n/a	chr8:115265672-115265683
9	CEBPB	chr8:115261940-115262622	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr8:115265592-115266087	Hela-S3	cervix:	n/a	chr8:115265672-115265683
11	CTCF	chr8:115265195-115265257	Lung_OC	lung:	n/a	n/a
12	CTCF	chr8:115290015-115290102	ProgFib	skin:	n/a	n/a
13	CTCF	chr8:115282928-115283028	Kidney_OC	kidney:	n/a	n/a
14	CUX1	chr8:115274076-115274582	GM12878	blood:	n/a	chr8:115274457-115274466
15	E2F4	chr8:115286806-115286814	MCF10A-Er-Src	breast:	n/a	n/a
16	EBF1	chr8:115274820-115275515	GM12878	blood:	n/a	n/a
17	EBF1	chr8:115282971-115283192	GM12878	blood:	n/a	n/a
18	EBF1	chr8:115281748-115281898	GM12878	blood:	n/a	n/a
19	EP300	chr8:115274202-115274458	GM12878	blood:	n/a	chr8:115274390-115274404
20	FOS	chr8:115265779-115265985	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr8:115273745-115274397	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr8:115273800-115274159	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr8:115273776-115274406	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr8:115265781-115265991	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr8:115273805-115274152	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr8:115265718-115266027	MCF10A-Er-Src	breast:	n/a	n/a
27	GATA3	chr8:115262342-115262463	MCF-7	breast:	n/a	n/a
28	GATA3	chr8:115262263-115262717	MCF-7	breast:	n/a	n/a
29	JUN	chr8:115279609-115279785	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr8:115273942-115274035	HepG2	liver:	n/a	chr8:115273950-115273961 chr8:115273978-115273989
31	MAFK	chr8:115286722-115287042	HepG2	liver:	n/a	chr8:115286867-115286881 chr8:115286868-115286879 chr8:115286868-115286879 chr8:115286869-115286880 chr8:115286869-115286880
32	MAFK	chr8:115286519-115286663	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAFK	chr8:115272223-115272328	HepG2	liver:	n/a	n/a
34	MAZ	chr8:115261115-115261128	HepG2	liver:	n/a	n/a
35	MEF2A	chr8:115274146-115274477	GM12878	blood:	n/a	n/a
36	MYC	chr8:115275782-115275894	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr8:115267304-115267306	MCF-7	breast:	n/a	n/a
38	MYC	chr8:115267357-115267428	MCF-7	breast:	n/a	n/a
39	MYC	chr8:115267286-115267302	MCF-7	breast:	n/a	n/a
40	MYC	chr8:115267263-115267277	MCF-7	breast:	n/a	n/a
41	MYC	chr8:115273857-115274050	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr8:115267346-115267357	MCF-7	breast:	n/a	n/a
43	MYC	chr8:115267324-115267330	MCF-7	breast:	n/a	n/a
44	NFIC	chr8:115274101-115274552	GM12878	blood:	n/a	n/a
45	PAX5	chr8:115282795-115283034	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:115267219-115267238	MCF-7	breast:	n/a	n/a
47	POLR2A	chr8:115267313-115267390	MCF-7	breast:	n/a	n/a
48	POLR2A	chr8:115277698-115277877	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr8:115267245-115267279	MCF-7	breast:	n/a	n/a
50	POLR2A	chr8:115260786-115260884	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000254339	TF binding region

Extended variants
information (count: 684 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528048517	chr8:115260277-115260278	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181380456	chr8:115260279-115260280	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368355728	chr8:115260285-115260286	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567766245	chr8:115260291-115260292	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372109458	chr8:115260325-115260326	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17632393	chr8:115260358-115260359	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113091616	chr8:115260359-115260360	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146924760	chr8:115260388-115260389	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557983223	chr8:115260425-115260426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546747321	chr8:115260452-115260453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137879620	chr8:115260502-115260503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140725901	chr8:115260517-115260518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78258554	chr8:115260606-115260607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551631447	chr8:115260619-115260620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574109623	chr8:115260684-115260685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542212826	chr8:115260712-115260713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562168260	chr8:115260722-115260723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114959689	chr8:115260743-115260744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578088922	chr8:115260744-115260745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535771084	chr8:115260751-115260752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550092107	chr8:115260762-115260763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75620691	chr8:115260799-115260800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538343565	chr8:115260813-115260814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531469192	chr8:115260823-115260824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200200658	chr8:115260840-115260841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527977884	chr8:115260842-115260843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542944305	chr8:115260903-115260904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372025773	chr8:115260905-115260906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377544307	chr8:115260912-115260913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116536671	chr8:115260935-115260936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191191994	chr8:115260949-115260950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150104370	chr8:115260951-115260952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116112547	chr8:115260966-115260967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77670437	chr8:115261009-115261010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138463301	chr8:115261043-115261044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373418902	chr8:115261073-115261074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183160614	chr8:115261109-115261110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371092582	chr8:115261122-115261123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2176118	chr8:115261134-115261135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs567637257	chr8:115261137-115261138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186402046	chr8:115261178-115261179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556580694	chr8:115261267-115261268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78792997	chr8:115261319-115261320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545534228	chr8:115261329-115261330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554054027	chr8:115261380-115261381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536214681	chr8:115261384-115261385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190953323	chr8:115261411-115261412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542880729	chr8:115261433-115261434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149296998	chr8:115261435-115261436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528809567	chr8:115261478-115261479	Weak transcription	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115259800-115260400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr8:115260000-115260400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:115260000-115260400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:115260000-115260400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:115260200-115269200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:115260400-115261000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:115260400-115261600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:115260400-115267200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:115261000-115261600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:115261200-115262200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:115261600-115262200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:115261800-115262000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:115261800-115262800	Enhancers	Hela-S3	cervix
14	chr8:115262000-115262600	Enhancers	Dnd41	blood
15	chr8:115262600-115267000	Weak transcription	Dnd41	blood
16	chr8:115267000-115267400	ZNF genes & repeats	Spleen	Spleen
17	chr8:115267000-115268000	ZNF genes & repeats	Dnd41	blood
18	chr8:115267200-115267600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr8:115267200-115267600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:115273600-115274000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:115277200-115277600	Enhancers	Liver	Liver
22	chr8:115278000-115278400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:115278400-115281800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:115281800-115282000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:115288200-115290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:115290600-115293000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:115291200-115292400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:115291200-115292400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:115291200-115293600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:115291600-115293000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:115291800-115292200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:115291800-115292400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:115291800-115292400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:115291800-115292600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:115291800-115293600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:115291800-115293800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:115292200-115294000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:115292400-115293600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:115292400-115293600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:115292400-115293800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:115292400-115293800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:115292600-115293800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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