Variant report

Variant	nsv972220
Chromosome Location	chr8:113572073-113585289
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	CEBPB	chr8:113584151-113584545	Hela-S3	cervix:	n/a	chr8:113584378-113584389 chr8:113584378-113584391 chr8:113584325-113584336 chr8:113584380-113584391
2	CEBPB	chr8:113584277-113584402	H1-hESC	embryonic stem cell:	n/a	chr8:113584378-113584389 chr8:113584378-113584391 chr8:113584325-113584336 chr8:113584380-113584391
3	CEBPB	chr8:113584173-113584544	HepG2	liver:	n/a	chr8:113584378-113584389 chr8:113584378-113584391 chr8:113584325-113584336 chr8:113584380-113584391
4	CEBPB	chr8:113574808-113574989	A549	lung:	n/a	chr8:113574860-113574871 chr8:113574860-113574873 chr8:113574860-113574873
5	CEBPB	chr8:113584132-113584520	A549	lung:	n/a	chr8:113584378-113584389 chr8:113584378-113584391 chr8:113584325-113584336 chr8:113584380-113584391
6	CEBPB	chr8:113584252-113584508	A549	lung:	n/a	chr8:113584378-113584389 chr8:113584378-113584391 chr8:113584325-113584336 chr8:113584380-113584391
7	CEBPB	chr8:113584175-113584533	IMR90	lung:	n/a	chr8:113584378-113584389 chr8:113584378-113584391 chr8:113584325-113584336 chr8:113584380-113584391
8	CEBPB	chr8:113574810-113574943	H1-hESC	embryonic stem cell:	n/a	chr8:113574860-113574871 chr8:113574860-113574873 chr8:113574860-113574873
9	CEBPB	chr8:113584242-113584491	K562	blood:	n/a	chr8:113584378-113584389 chr8:113584378-113584391 chr8:113584325-113584336 chr8:113584380-113584391
10	E2F4	chr8:113577530-113577661	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr8:113584172-113584451	Hela-S3	cervix:	n/a	chr8:113584185-113584192 chr8:113584237-113584251
12	FOS	chr8:113580888-113581028	MCF10A-Er-Src	breast:	n/a	chr8:113580965-113580977 chr8:113580967-113580975 chr8:113580966-113580977
13	FOS	chr8:113584193-113584601	MCF10A-Er-Src	breast:	n/a	chr8:113584196-113584208
14	FOS	chr8:113584185-113584486	MCF10A-Er-Src	breast:	n/a	chr8:113584196-113584208
15	FOS	chr8:113584167-113584524	MCF10A-Er-Src	breast:	n/a	chr8:113584196-113584208
16	FOS	chr8:113584187-113584501	MCF10A-Er-Src	breast:	n/a	chr8:113584196-113584208
17	GATA3	chr8:113585288-113585412	MCF-7	breast:	n/a	n/a
18	MAFF	chr8:113580844-113581102	HepG2	liver:	n/a	chr8:113580965-113580983
19	MAFK	chr8:113580886-113581074	IMR90	lung:	n/a	chr8:113580966-113580981
20	MAFK	chr8:113580838-113581095	HepG2	liver:	n/a	chr8:113580966-113580981
21	MAFK	chr8:113580955-113580985	HepG2	liver:	n/a	chr8:113580966-113580981
22	MYC	chr8:113583849-113583899	MCF-7	breast:	n/a	n/a
23	MYC	chr8:113584313-113584514	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr8:113572316-113572323	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr8:113573239-113573585	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr8:113581409-113581435	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr8:113574858-113574993	MCF10A-Er-Src	breast:	n/a	n/a
28	SMC3	chr8:113584322-113584458	HepG2	liver:	n/a	n/a
29	STAT3	chr8:113584128-113584521	MCF10A-Er-Src	breast:	n/a	chr8:113584491-113584505 chr8:113584313-113584321 chr8:113584380-113584388
30	STAT3	chr8:113584202-113584411	MCF10A-Er-Src	breast:	n/a	chr8:113584313-113584321 chr8:113584380-113584388
31	STAT3	chr8:113584267-113584361	MCF10A-Er-Src	breast:	n/a	chr8:113584313-113584321
32	STAT3	chr8:113580196-113580379	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr8:113576095-113576204	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr8:113576744-113576859	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000238656	TF binding region

Extended variants
information (count: 470 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561686315	chr8:113572228-113572229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190368605	chr8:113572237-113572238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544376509	chr8:113572251-113572252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554480091	chr8:113572253-113572254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183361281	chr8:113572270-113572271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145279822	chr8:113572290-113572291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559680777	chr8:113572304-113572305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531973514	chr8:113572353-113572354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147621549	chr8:113572369-113572370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530224197	chr8:113572394-113572395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562223436	chr8:113572465-113572466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188689467	chr8:113572528-113572529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551126083	chr8:113572572-113572573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369812446	chr8:113572609-113572610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567761455	chr8:113572613-113572614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555838251	chr8:113572625-113572626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530377856	chr8:113572703-113572704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547303501	chr8:113572742-113572743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543905144	chr8:113572747-113572748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567216476	chr8:113572773-113572774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368828116	chr8:113572815-113572816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16883817	chr8:113572893-113572894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76496495	chr8:113572908-113572909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552942447	chr8:113572973-113572974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142149467	chr8:113572993-113572994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369170351	chr8:113572997-113572998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560124442	chr8:113573008-113573009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75076384	chr8:113573024-113573025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554705757	chr8:113573026-113573027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574557647	chr8:113573047-113573048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147796435	chr8:113573111-113573112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373452270	chr8:113573120-113573121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553648962	chr8:113573173-113573174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576757238	chr8:113573181-113573182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140145857	chr8:113573221-113573222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562360901	chr8:113573268-113573269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528729289	chr8:113573275-113573276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74791647	chr8:113573300-113573301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150298850	chr8:113573490-113573491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561859966	chr8:113573518-113573519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192789773	chr8:113573532-113573533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2354349	chr8:113573537-113573538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560749902	chr8:113573558-113573559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113572591	chr8:113573584-113573585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377213609	chr8:113573605-113573606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532868728	chr8:113573610-113573611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552573604	chr8:113573625-113573626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73330509	chr8:113573655-113573656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137867006	chr8:113573667-113573668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188459215	chr8:113573669-113573670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113555600-113594000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:113563200-113572800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:113576000-113576200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:113576200-113576600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:113576600-113576800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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