Variant report

Variant	esv2518343
Chromosome Location	chr6:147129690-147138004
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	chr6:147134737-147134857	HepG2	liver:	n/a	n/a
2	BRCA1	chr6:147134036-147134242	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr6:147135519-147135720	IMR90	lung:	n/a	n/a
4	CEBPB	chr6:147130209-147130566	K562	blood:	n/a	chr6:147130397-147130408
5	CEBPB	chr6:147133650-147134389	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr6:147130371-147130445	H1-hESC	embryonic stem cell:	n/a	chr6:147130397-147130408
7	CEBPB	chr6:147137154-147137512	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr6:147134759-147134774	A549	lung:	n/a	n/a
9	CEBPB	chr6:147137227-147137455	IMR90	lung:	n/a	n/a
10	CEBPB	chr6:147134725-147134971	IMR90	lung:	n/a	chr6:147134815-147134826
11	CEBPB	chr6:147130302-147130491	HepG2	liver:	n/a	chr6:147130397-147130408
12	CEBPB	chr6:147130246-147130441	K562	blood:	n/a	chr6:147130397-147130408
13	CEBPB	chr6:147130287-147130487	K562	blood:	n/a	chr6:147130397-147130408
14	CEBPB	chr6:147137004-147137486	K562	blood:	n/a	n/a
15	CEBPB	chr6:147137240-147137518	K562	blood:	n/a	n/a
16	CEBPB	chr6:147134600-147135048	Hela-S3	cervix:	n/a	chr6:147134815-147134826
17	CEBPB	chr6:147133875-147134409	IMR90	lung:	n/a	n/a
18	CTCF	chr6:147133053-147133096	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr6:147133487-147133583	GM10266	blood:	n/a	n/a
20	EGR1	chr6:147135931-147136133	K562	blood:	n/a	chr6:147136064-147136074 chr6:147136062-147136075 chr6:147136058-147136080 chr6:147136063-147136074 chr6:147136062-147136075 chr6:147136064-147136074 chr6:147136061-147136076 chr6:147136062-147136076 chr6:147136063-147136074
21	EGR1	chr6:147135921-147136197	K562	blood:	n/a	chr6:147136064-147136074 chr6:147136062-147136075 chr6:147136058-147136080 chr6:147136063-147136074 chr6:147136062-147136075 chr6:147136064-147136074 chr6:147136061-147136076 chr6:147136062-147136076 chr6:147136063-147136074
22	EP300	chr6:147133962-147134387	Hela-S3	cervix:	n/a	n/a
23	EP300	chr6:147137124-147137150	K562	blood:	n/a	n/a
24	EP300	chr6:147134671-147135096	Hela-S3	cervix:	n/a	n/a
25	GATA2	chr6:147136918-147137364	K562	blood:	n/a	n/a
26	JUND	chr6:147133901-147134241	K562	blood:	n/a	n/a
27	KAP1	chr6:147133857-147134519	U2OS	brain:	n/a	n/a
28	MAFK	chr6:147134203-147134376	IMR90	lung:	n/a	n/a
29	NR2F2	chr6:147129968-147130391	K562	blood:	n/a	n/a
30	NR2F2	chr6:147136924-147137394	K562	blood:	n/a	n/a
31	NR2F2	chr6:147136908-147137330	K562	blood:	n/a	n/a
32	NR2F2	chr6:147129961-147130440	K562	blood:	n/a	n/a
33	POLR2A	chr6:147131380-147131458	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:147130060-147130145	MCF-7	breast:	n/a	n/a
35	POLR2A	chr6:147130078-147130117	MCF-7	breast:	n/a	n/a
36	POLR2A	chr6:147137031-147137061	MCF-7	breast:	n/a	n/a
37	PRDM1	chr6:147134729-147135004	Hela-S3	cervix:	n/a	n/a
38	PRDM1	chr6:147133990-147134396	Hela-S3	cervix:	n/a	n/a
39	RAD21	chr6:147134064-147134264	Hela-S3	cervix:	n/a	n/a
40	RAD21	chr6:147134415-147134470	IMR90	lung:	n/a	n/a
41	RCOR1	chr6:147134027-147134245	K562	blood:	n/a	n/a
42	RCOR1	chr6:147133972-147134236	Hela-S3	cervix:	n/a	n/a
43	SETDB1	chr6:147137235-147137735	U2OS	brain:	n/a	n/a
44	SPI1	chr6:147135271-147135567	HL-60	blood:	n/a	n/a
45	SPI1	chr6:147135350-147135613	K562	blood:	n/a	n/a
46	SPI1	chr6:147135344-147135579	K562	blood:	n/a	n/a
47	SPI1	chr6:147135252-147135692	HL-60	blood:	n/a	n/a
48	TAL1	chr6:147137110-147137322	K562	blood:	n/a	n/a
49	TCF7L2	chr6:147134760-147135015	Hela-S3	cervix:	n/a	n/a
50	TEAD4	chr6:147137030-147137303	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147127210..147129501-chr6:147132757..147135712,3	MCF-7	breast:
2	chr6:147123095..147125988-chr6:147132558..147134645,3	K562	blood:
3	chr6:147105883..147108078-chr6:147132118..147134839,2	MCF-7	breast:

Variant related genes	Relation type
KATNBL1P6	TF binding region
ENSG00000228283	chromatin interactions

Extended variants
information (count: 494 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:494 , 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	rs73586716	chr6:147129732-147129733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561794280	chr6:147129749-147129750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531100679	chr6:147129771-147129772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149813489	chr6:147129788-147129789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562556737	chr6:147129809-147129810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189110514	chr6:147129814-147129815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570303345	chr6:147129845-147129846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145813778	chr6:147129905-147129906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200994029	chr6:147129943-147129944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565597041	chr6:147129967-147129968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4573104	chr6:147129970-147129971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145733546	chr6:147129984-147129985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs259384	chr6:147130000-147130001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11451761	chr6:147130002-147130003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397797234	chr6:147130007-147130008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192424094	chr6:147130019-147130020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557267461	chr6:147130022-147130023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146542210	chr6:147130076-147130077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539220251	chr6:147130081-147130082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547655557	chr6:147130096-147130097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62434399	chr6:147130097-147130098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573254208	chr6:147130105-147130106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542351110	chr6:147130107-147130108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184422422	chr6:147130170-147130171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575263789	chr6:147130180-147130181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145010181	chr6:147130187-147130188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56910076	chr6:147130190-147130191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376038756	chr6:147130191-147130192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564404350	chr6:147130206-147130207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188915369	chr6:147130219-147130220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181404073	chr6:147130243-147130244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148263914	chr6:147130264-147130265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528162758	chr6:147130281-147130282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548336145	chr6:147130282-147130283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369361477	chr6:147130293-147130294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568186337	chr6:147130356-147130357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530018580	chr6:147130389-147130390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550606940	chr6:147130390-147130391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141352726	chr6:147130400-147130401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563613785	chr6:147130407-147130408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs259383	chr6:147130417-147130418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552882765	chr6:147130429-147130430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113822998	chr6:147130470-147130471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566041325	chr6:147130473-147130474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535556437	chr6:147130484-147130485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534937986	chr6:147130489-147130490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs60242805	chr6:147130493-147130494	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544158191	chr6:147130498-147130499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557731080	chr6:147130499-147130500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184908486	chr6:147130503-147130504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147125400-147133600	Weak transcription	K562	blood
2	chr6:147129600-147136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:147129800-147130800	Enhancers	Placenta	Placenta
4	chr6:147130800-147137400	Weak transcription	Placenta	Placenta
5	chr6:147133200-147136200	Enhancers	NH-A	brain
6	chr6:147133400-147136000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:147133600-147134200	Enhancers	K562	blood
8	chr6:147133600-147136200	Enhancers	Osteobl	bone
9	chr6:147133800-147134200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:147133800-147134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:147133800-147134200	Enhancers	Ovary	ovary
12	chr6:147133800-147134400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:147133800-147134400	Active TSS	Hela-S3	cervix
14	chr6:147133800-147135600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:147133800-147136000	Enhancers	HSMM	muscle
16	chr6:147134200-147135200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:147134200-147135400	Weak transcription	Ovary	ovary
18	chr6:147134200-147140600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:147134200-147140600	Weak transcription	K562	blood
20	chr6:147134400-147134600	Flanking Active TSS	Hela-S3	cervix
21	chr6:147134400-147135400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:147134400-147136200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:147134600-147134800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:147134600-147135000	Active TSS	Hela-S3	cervix
25	chr6:147134800-147135200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:147135000-147136200	Enhancers	Hela-S3	cervix
27	chr6:147135200-147135400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:147135200-147135600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:147135400-147135600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:147135400-147135600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:147135400-147135800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:147135600-147135800	Enhancers	Ovary	ovary
33	chr6:147136000-147141200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:147136200-147140400	Weak transcription	Osteobl	bone
35	chr6:147136200-147140600	Weak transcription	NH-A	brain
36	chr6:147136800-147137800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:147137400-147137600	Enhancers	Placenta	Placenta
38	chr6:147137400-147137800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:147137800-147141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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