Variant report

Variant	nsv966634
Chromosome Location	chr6:147128760-147141217
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	chr6:147137004-147137486	K562	blood:	n/a	n/a
4	CEBPB	chr6:147137154-147137512	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr6:147137227-147137455	IMR90	lung:	n/a	n/a
6	CEBPB	chr6:147133875-147134409	IMR90	lung:	n/a	n/a
7	CEBPB	chr6:147135519-147135720	IMR90	lung:	n/a	n/a
8	CEBPB	chr6:147137240-147137518	K562	blood:	n/a	n/a
9	CEBPB	chr6:147134725-147134971	IMR90	lung:	n/a	chr6:147134815-147134826
10	CEBPB	chr6:147134759-147134774	A549	lung:	n/a	n/a
11	CEBPB	chr6:147130287-147130487	K562	blood:	n/a	chr6:147130397-147130408
12	CEBPB	chr6:147133650-147134389	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr6:147130209-147130566	K562	blood:	n/a	chr6:147130397-147130408
14	CEBPB	chr6:147130302-147130491	HepG2	liver:	n/a	chr6:147130397-147130408
15	CEBPB	chr6:147134600-147135048	Hela-S3	cervix:	n/a	chr6:147134815-147134826
16	CEBPB	chr6:147130371-147130445	H1-hESC	embryonic stem cell:	n/a	chr6:147130397-147130408
17	CEBPB	chr6:147130246-147130441	K562	blood:	n/a	chr6:147130397-147130408
18	CTCF	chr6:147133487-147133583	GM10266	blood:	n/a	n/a
19	CTCF	chr6:147133053-147133096	Spleen_OC	spleen:	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	chr6:147134671-147135096	Hela-S3	cervix:	n/a	n/a
23	EP300	chr6:147133962-147134387	Hela-S3	cervix:	n/a	n/a
24	EP300	chr6:147137124-147137150	K562	blood:	n/a	n/a
25	GATA2	chr6:147136918-147137364	K562	blood:	n/a	n/a
26	JUND	chr6:147140938-147141111	K562	blood:	n/a	n/a
27	JUND	chr6:147133901-147134241	K562	blood:	n/a	n/a
28	KAP1	chr6:147133857-147134519	U2OS	brain:	n/a	n/a
29	KAP1	chr6:147140889-147141086	U2OS	brain:	n/a	n/a
30	MAFK	chr6:147134203-147134376	IMR90	lung:	n/a	n/a
31	NR2F2	chr6:147129961-147130440	K562	blood:	n/a	n/a
32	NR2F2	chr6:147136924-147137394	K562	blood:	n/a	n/a
33	NR2F2	chr6:147136908-147137330	K562	blood:	n/a	n/a
34	NR2F2	chr6:147129968-147130391	K562	blood:	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	POLR2A	chr6:147131380-147131458	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:147130060-147130145	MCF-7	breast:	n/a	n/a
39	PRDM1	chr6:147134729-147135004	Hela-S3	cervix:	n/a	n/a
40	PRDM1	chr6:147133990-147134396	Hela-S3	cervix:	n/a	n/a
41	RAD21	chr6:147134064-147134264	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr6:147134415-147134470	IMR90	lung:	n/a	n/a
43	RCOR1	chr6:147140956-147141114	K562	blood:	n/a	n/a
44	RCOR1	chr6:147134027-147134245	K562	blood:	n/a	n/a
45	RCOR1	chr6:147140980-147141039	K562	blood:	n/a	n/a
46	RCOR1	chr6:147133972-147134236	Hela-S3	cervix:	n/a	n/a
47	SETDB1	chr6:147137235-147137735	U2OS	brain:	n/a	n/a
48	SPI1	chr6:147135271-147135567	HL-60	blood:	n/a	n/a
49	SPI1	chr6:147135252-147135692	HL-60	blood:	n/a	n/a
50	SPI1	chr6:147135350-147135613	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	chr6:147139442..147141026-chr6:147141796..147143486,2	MCF-7	breast:
3	chr6:147127210..147129501-chr6:147132757..147135712,3	MCF-7	breast:
4	chr6:147123095..147125988-chr6:147132558..147134645,3	K562	blood:
5	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: 704 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538349326	chr6:147128829-147128830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182646541	chr6:147128873-147128874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143575950	chr6:147128882-147128883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147138106	chr6:147128893-147128894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187818257	chr6:147128899-147128900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369967496	chr6:147128912-147128913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574822189	chr6:147128920-147128921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543635360	chr6:147128935-147128936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563524172	chr6:147128978-147128979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140334469	chr6:147128985-147128986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545994615	chr6:147129024-147129025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192717848	chr6:147129047-147129048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369961809	chr6:147129128-147129129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556215950	chr6:147129136-147129137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9497638	chr6:147129162-147129163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9390423	chr6:147129238-147129239	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371442863	chr6:147129308-147129309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547198012	chr6:147129319-147129320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12203911	chr6:147129320-147129321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9485125	chr6:147129324-147129325	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550714511	chr6:147129338-147129339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570719716	chr6:147129347-147129348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573815138	chr6:147129353-147129354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552009610	chr6:147129354-147129355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542437445	chr6:147129356-147129357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113962637	chr6:147129381-147129382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62434398	chr6:147129382-147129383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372323923	chr6:147129411-147129412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554591550	chr6:147129415-147129416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574784320	chr6:147129416-147129417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540495114	chr6:147129477-147129478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557155217	chr6:147129532-147129533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117181815	chr6:147129590-147129591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73786784	chr6:147129608-147129609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs559556538	chr6:147129609-147129610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372217365	chr6:147129631-147129632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376537100	chr6:147129634-147129635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368411061	chr6:147129671-147129672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73586716	chr6:147129732-147129733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561794280	chr6:147129749-147129750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531100679	chr6:147129771-147129772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149813489	chr6:147129788-147129789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562556737	chr6:147129809-147129810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189110514	chr6:147129814-147129815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570303345	chr6:147129845-147129846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145813778	chr6:147129905-147129906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200994029	chr6:147129943-147129944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565597041	chr6:147129967-147129968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4573104	chr6:147129970-147129971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs145733546	chr6:147129984-147129985	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147125400-147133600	Weak transcription	K562	blood
2	chr6:147129200-147129600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:147129600-147136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:147129800-147130800	Enhancers	Placenta	Placenta
5	chr6:147130800-147137400	Weak transcription	Placenta	Placenta
6	chr6:147133200-147136200	Enhancers	NH-A	brain
7	chr6:147133400-147136000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:147133600-147134200	Enhancers	K562	blood
9	chr6:147133600-147136200	Enhancers	Osteobl	bone
10	chr6:147133800-147134200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:147133800-147134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:147133800-147134200	Enhancers	Ovary	ovary
13	chr6:147133800-147134400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:147133800-147134400	Active TSS	Hela-S3	cervix
15	chr6:147133800-147135600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:147133800-147136000	Enhancers	HSMM	muscle
17	chr6:147134200-147135200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:147134200-147135400	Weak transcription	Ovary	ovary
19	chr6:147134200-147140600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:147134200-147140600	Weak transcription	K562	blood
21	chr6:147134400-147134600	Flanking Active TSS	Hela-S3	cervix
22	chr6:147134400-147135400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:147134400-147136200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:147134600-147134800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:147134600-147135000	Active TSS	Hela-S3	cervix
26	chr6:147134800-147135200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:147135000-147136200	Enhancers	Hela-S3	cervix
28	chr6:147135200-147135400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:147135200-147135600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:147135400-147135600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:147135400-147135600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:147135400-147135800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:147135600-147135800	Enhancers	Ovary	ovary
34	chr6:147136000-147141200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:147136200-147140400	Weak transcription	Osteobl	bone
36	chr6:147136200-147140600	Weak transcription	NH-A	brain
37	chr6:147136800-147137800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:147137400-147137600	Enhancers	Placenta	Placenta
39	chr6:147137400-147137800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:147137800-147141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:147140400-147141600	Enhancers	Osteobl	bone
42	chr6:147140600-147141600	Enhancers	K562	blood
43	chr6:147140600-147141600	Enhancers	NH-A	brain
44	chr6:147140600-147141800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:147140800-147141000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:147140800-147141200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:147141000-147154400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:147141200-147142000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links