Variant report

Variant	esv12508
Chromosome Location	chr6:76155476-76160886
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	chr6:76156096-76156362	GM12878	blood:	n/a	n/a
2	BATF	chr6:76156079-76156332	GM12878	blood:	n/a	n/a
3	BRCA1	chr6:76159390-76159717	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr6:76159377-76159892	IMR90	lung:	n/a	n/a
5	CEBPB	chr6:76159402-76159950	A549	lung:	n/a	n/a
6	CEBPB	chr6:76159486-76159979	MCF-7	breast:	n/a	n/a
7	CEBPB	chr6:76159347-76159947	MCF-7	breast:	n/a	n/a
8	CEBPB	chr6:76159354-76159917	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr6:76159461-76159747	A549	lung:	n/a	n/a
10	CTCF	chr6:76158676-76158684	GM13976	blood:	n/a	n/a
11	CTCF	chr6:76156435-76156497	Spleen_OC	spleen:	n/a	n/a
12	EBF1	chr6:76156064-76156411	GM12878	blood:	n/a	n/a
13	EP300	chr6:76159177-76159916	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159524
14	EP300	chr6:76159351-76159759	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159524
15	EP300	chr6:76159403-76159688	Hela-S3	cervix:	n/a	chr6:76159514-76159523 chr6:76159515-76159524
16	EP300	chr6:76159323-76159644	A549	lung:	n/a	chr6:76159514-76159523 chr6:76159515-76159524
17	FOS	chr6:76159362-76159685	MCF10A-Er-Src	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
18	FOS	chr6:76159375-76159689	MCF10A-Er-Src	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
19	FOS	chr6:76159388-76159686	MCF10A-Er-Src	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
20	FOS	chr6:76159359-76159700	MCF10A-Er-Src	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
21	FOSL2	chr6:76159292-76159857	MCF-7	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
22	FOSL2	chr6:76159206-76159818	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
23	FOSL2	chr6:76159292-76159791	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
24	FOSL2	chr6:76159202-76159887	A549	lung:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
25	FOSL2	chr6:76159348-76159651	A549	lung:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
26	FOSL2	chr6:76159313-76159730	MCF-7	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
27	FOXA2	chr6:76159356-76159762	A549	lung:	n/a	n/a
28	GATA2	chr6:76159352-76159752	HUVEC	blood vessel:	n/a	n/a
29	GATA3	chr6:76159115-76160165	MCF-7	breast:	n/a	n/a
30	GATA3	chr6:76159148-76160099	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr6:76159260-76159930	MCF-7	breast:	n/a	n/a
32	GATA3	chr6:76159409-76159658	MCF-7	breast:	n/a	n/a
33	GATA3	chr6:76159168-76159919	A549	lung:	n/a	n/a
34	GATA3	chr6:76159115-76159935	SK-N-SH	brain:	n/a	n/a
35	JUN	chr6:76159350-76159722	Hela-S3	cervix:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
36	JUND	chr6:76159213-76159879	MCF-7	breast:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
37	JUND	chr6:76159225-76159805	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
38	JUND	chr6:76159134-76159894	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
39	JUND	chr6:76159248-76159841	SK-N-SH	brain:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
40	JUND	chr6:76159338-76159908	Hela-S3	cervix:	n/a	chr6:76159514-76159523 chr6:76159515-76159522 chr6:76159515-76159523 chr6:76159513-76159525
41	MAFF	chr6:76155508-76155773	K562	blood:	n/a	chr6:76155638-76155656
42	MAFF	chr6:76155487-76155797	HepG2	liver:	n/a	chr6:76155638-76155656
43	MAFK	chr6:76155477-76155822	HepG2	liver:	n/a	chr6:76155640-76155651 chr6:76155640-76155651 chr6:76155640-76155655
44	MAFK	chr6:76155545-76155745	Hela-S3	cervix:	n/a	chr6:76155640-76155651 chr6:76155640-76155651 chr6:76155640-76155655
45	MAFK	chr6:76155482-76155822	IMR90	lung:	n/a	chr6:76155640-76155651 chr6:76155640-76155651 chr6:76155640-76155655
46	MAFK	chr6:76155514-76155799	HepG2	liver:	n/a	chr6:76155640-76155651 chr6:76155640-76155651 chr6:76155640-76155655
47	MAFK	chr6:76155584-76155751	K562	blood:	n/a	chr6:76155640-76155651 chr6:76155640-76155651 chr6:76155640-76155655
48	MAX	chr6:76160647-76160955	NB4	blood:	n/a	chr6:76160799-76160809
49	MYC	chr6:76160655-76160955	NB4	blood:	n/a	chr6:76160799-76160809
50	MYC	chr6:76159504-76159621	MCF10A-Er-Src	breast:	n/a	chr6:76159515-76159524

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:76160176..76162378-chr6:76232969..76235854,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238156	TF binding region

Extended variants
information (count: 158 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs139206581	chr6:76155501-76155502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530644089	chr6:76155506-76155507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35140892	chr6:76155565-76155566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185052421	chr6:76155592-76155593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568255750	chr6:76155625-76155626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535536797	chr6:76155628-76155629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189758281	chr6:76155651-76155652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555783581	chr6:76155709-76155710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574109610	chr6:76155716-76155717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182384433	chr6:76155784-76155785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539805678	chr6:76155793-76155794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187099051	chr6:76155916-76155917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559552692	chr6:76155917-76155918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576806428	chr6:76155919-76155920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111401618	chr6:76156084-76156085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537684590	chr6:76156090-76156091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372032587	chr6:76156096-76156097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541717051	chr6:76156160-76156161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555959195	chr6:76156278-76156279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34747139	chr6:76156294-76156295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558676764	chr6:76156362-76156363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540743578	chr6:76156419-76156420	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559313728	chr6:76156461-76156462	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577598249	chr6:76156499-76156500	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111718931	chr6:76156524-76156525	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191548398	chr6:76156550-76156551	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578093267	chr6:76156556-76156557	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149501850	chr6:76156587-76156588	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144063022	chr6:76156633-76156634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370351336	chr6:76156728-76156729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529409198	chr6:76156805-76156806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547610734	chr6:76156831-76156832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6930208	chr6:76156851-76156852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140066170	chr6:76156874-76156875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375611046	chr6:76156892-76156893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551237889	chr6:76156902-76156903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77022014	chr6:76156907-76156908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563951384	chr6:76156928-76156929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552791490	chr6:76156976-76156977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6908400	chr6:76157145-76157146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556020602	chr6:76157146-76157147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79830845	chr6:76157150-76157151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143738577	chr6:76157189-76157190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552818966	chr6:76157207-76157208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183330705	chr6:76157280-76157281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544645146	chr6:76157295-76157296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188835664	chr6:76157321-76157322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575181455	chr6:76157330-76157331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2998394	chr6:76157366-76157367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561221194	chr6:76157367-76157368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76146400-76171600	Weak transcription	Right Ventricle	heart
2	chr6:76148000-76156200	Weak transcription	Aorta	Aorta
3	chr6:76148400-76173600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:76148600-76156200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:76148800-76177000	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:76150400-76156200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:76150400-76168800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:76150600-76156200	Weak transcription	Left Ventricle	heart
9	chr6:76154600-76155600	Enhancers	Fetal Lung	lung
10	chr6:76154800-76158000	Enhancers	A549	lung
11	chr6:76154800-76159200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:76155200-76156200	Weak transcription	Psoas Muscle	Psoas
13	chr6:76155200-76156400	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:76155200-76159000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:76155400-76155600	Enhancers	Fetal Heart	heart
16	chr6:76155400-76155800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:76155400-76159000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:76155600-76156000	Weak transcription	Fetal Heart	heart
19	chr6:76155600-76168000	Weak transcription	Fetal Lung	lung
20	chr6:76155800-76157200	Enhancers	Rectal Smooth Muscle	rectum
21	chr6:76156000-76157400	Enhancers	Fetal Heart	heart
22	chr6:76156200-76156400	Enhancers	Left Ventricle	heart
23	chr6:76156200-76156400	Enhancers	NHDF-Ad	bronchial
24	chr6:76156200-76156600	Enhancers	Aorta	Aorta
25	chr6:76156200-76156600	Enhancers	Psoas Muscle	Psoas
26	chr6:76156200-76156600	Enhancers	Right Atrium	heart
27	chr6:76156200-76156800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr6:76156200-76156800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:76156400-76156600	Genic enhancers	Left Ventricle	heart
30	chr6:76156400-76156800	Enhancers	Colon Smooth Muscle	Colon
31	chr6:76156400-76159200	Weak transcription	NHDF-Ad	bronchial
32	chr6:76156600-76159600	Weak transcription	Aorta	Aorta
33	chr6:76156600-76167600	Weak transcription	Psoas Muscle	Psoas
34	chr6:76156600-76171400	Weak transcription	Left Ventricle	heart
35	chr6:76156800-76159200	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:76156800-76169800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:76156800-76170800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:76157400-76164800	Weak transcription	Fetal Heart	heart
39	chr6:76158000-76159200	Weak transcription	A549	lung
40	chr6:76159000-76160000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:76159000-76160000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:76159200-76159400	Enhancers	Colon Smooth Muscle	Colon
43	chr6:76159200-76159600	Enhancers	Hela-S3	cervix
44	chr6:76159200-76159800	Enhancers	HSMMtube	muscle
45	chr6:76159200-76159800	Enhancers	Osteobl	bone
46	chr6:76159200-76160000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:76159200-76160000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:76159200-76160000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:76159200-76160000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:76159200-76160000	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links