Variant report

Variant	nsv517934
Chromosome Location	chr6:133062916-133072650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:133070203-133070674	HepG2	liver:	n/a	n/a
2	ATF2	chr6:133071740-133072486	GM12878	blood:	n/a	n/a
3	BATF	chr6:133072412-133072833	GM12878	blood:	n/a	n/a
4	BATF	chr6:133071896-133072247	GM12878	blood:	n/a	n/a
5	BATF	chr6:133071821-133072331	GM12878	blood:	n/a	n/a
6	BATF	chr6:133072479-133072771	GM12878	blood:	n/a	n/a
7	BHLHE40	chr6:133072533-133072879	GM12878	blood:	n/a	n/a
8	BHLHE40	chr6:133071867-133072320	GM12878	blood:	n/a	n/a
9	CEBPB	chr6:133070255-133070702	HCT-116	colon:	n/a	n/a
10	CEBPB	chr6:133070234-133070560	IMR90	lung:	n/a	n/a
11	CEBPB	chr6:133070311-133070497	HepG2	liver:	n/a	n/a
12	CEBPB	chr6:133070201-133070592	HepG2	liver:	n/a	n/a
13	CEBPB	chr6:133070128-133070657	HCT-116	colon:	n/a	n/a
14	CEBPB	chr6:133070215-133070585	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr6:133067279-133067547	HepG2	liver:	n/a	chr6:133067436-133067449
16	CEBPD	chr6:133070261-133070496	HepG2	liver:	n/a	n/a
17	CHD1	chr6:133071883-133072206	GM12878	blood:	n/a	n/a
18	CHD2	chr6:133071891-133072156	GM12878	blood:	n/a	n/a
19	CUX1	chr6:133072450-133072801	GM12878	blood:	n/a	n/a
20	CUX1	chr6:133071896-133072248	GM12878	blood:	n/a	n/a
21	E2F4	chr6:133070253-133070460	MCF10A-Er-Src	breast:	n/a	n/a
22	EBF1	chr6:133072481-133072899	GM12878	blood:	n/a	n/a
23	EBF1	chr6:133071817-133072273	GM12878	blood:	n/a	n/a
24	EP300	chr6:133072514-133072868	GM12878	blood:	n/a	n/a
25	EP300	chr6:133070249-133070534	Hela-S3	cervix:	n/a	n/a
26	EP300	chr6:133071838-133072961	GM12878	blood:	n/a	chr6:133071869-133071883
27	EP300	chr6:133071844-133072286	GM12878	blood:	n/a	chr6:133071869-133071883
28	EP300	chr6:133071881-133072167	GM12878	blood:	n/a	n/a
29	EP300	chr6:133070230-133070637	HepG2	liver:	n/a	n/a
30	FAM48A	chr6:133067528-133067665	GM12878	blood:	n/a	n/a
31	FOS	chr6:133070224-133070539	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr6:133070229-133070522	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr6:133067195-133067577	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr6:133067188-133067615	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:133067188-133067630	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:133070223-133070545	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr6:133067188-133067548	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:133070269-133070461	MCF10A-Er-Src	breast:	n/a	n/a
39	FOXA1	chr6:133070128-133070550	HepG2	liver:	n/a	chr6:133070141-133070153
40	FOXA1	chr6:133070254-133070594	HepG2	liver:	n/a	n/a
41	FOXA1	chr6:133070246-133070680	HepG2	liver:	n/a	n/a
42	FOXP2	chr6:133067275-133067544	SK-N-MC	brain:	n/a	n/a
43	IKZF1	chr6:133071886-133072915	GM12878	blood:	n/a	n/a
44	IRF3	chr6:133072225-133072246	GM12878	blood:	n/a	n/a
45	IRF4	chr6:133071880-133072215	GM12878	blood:	n/a	chr6:133072012-133072026
46	JUN	chr6:133064879-133064903	HepG2	liver:	n/a	n/a
47	JUND	chr6:133071752-133072881	GM12878	blood:	n/a	n/a
48	MAX	chr6:133072049-133072895	GM12878	blood:	n/a	n/a
49	MAX	chr6:133063727-133063944	NB4	blood:	n/a	n/a
50	MAZ	chr6:133071878-133072074	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:133066307..133069069-chr6:133084941..133086907,2	MCF-7	breast:
2	chr6:133070450..133072102-chr6:133074566..133077199,2	K562	blood:
3	chr6:133041781..133043752-chr6:133068692..133070309,2	K562	blood:
4	chr6:133049010..133050682-chr6:133062488..133064307,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234484	TF binding region
ENSG00000271488	chromatin interactions

Extended variants
information (count: 439 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13214628	chr6:133062916-133062917	Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs55712210	chr6:133062949-133062950	Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6569844	chr6:133062958-133062959	Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs182666598	chr6:133062983-133062984	Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73772944	chr6:133062991-133062992	Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187982337	chr6:133062996-133062997	Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575805044	chr6:133063038-133063039	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374042820	chr6:133063077-133063078	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557018037	chr6:133063089-133063090	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550152518	chr6:133063103-133063104	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58598730	chr6:133063114-133063115	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35655499	chr6:133063170-133063171	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564598833	chr6:133063173-133063174	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34402702	chr6:133063195-133063196	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550261274	chr6:133063198-133063199	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570282705	chr6:133063199-133063200	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535626887	chr6:133063200-133063201	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79309687	chr6:133063201-133063202	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80125750	chr6:133063202-133063203	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549693272	chr6:133063211-133063212	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34381896	chr6:133063239-133063240	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533815461	chr6:133063246-133063247	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553339730	chr6:133063248-133063249	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35850139	chr6:133063266-133063267	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539168921	chr6:133063276-133063277	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557523198	chr6:133063316-133063317	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35392873	chr6:133063317-133063318	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6916256	chr6:133063344-133063345	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575843565	chr6:133063356-133063357	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376178045	chr6:133063364-133063365	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541647424	chr6:133063378-133063379	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554074449	chr6:133063387-133063388	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541256293	chr6:133063388-133063389	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6939079	chr6:133063395-133063396	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs139946276	chr6:133063403-133063404	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530310185	chr6:133063404-133063405	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564486993	chr6:133063428-133063429	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35596894	chr6:133063436-133063437	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550299606	chr6:133063439-133063440	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563731337	chr6:133063440-133063441	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529538769	chr6:133063441-133063442	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549290186	chr6:133063450-133063451	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35649736	chr6:133063458-133063459	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535023454	chr6:133063465-133063466	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34265099	chr6:133063466-133063467	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570119415	chr6:133063491-133063492	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539009173	chr6:133063501-133063502	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185075163	chr6:133063538-133063539	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35957947	chr6:133063543-133063544	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535665001	chr6:133063544-133063545	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133044400-133066200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:133055200-133064800	Weak transcription	Primary T cells from cord blood	blood
3	chr6:133056800-133067400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:133057600-133069200	Weak transcription	GM12878-XiMat	blood
5	chr6:133058400-133064800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:133058400-133070400	Weak transcription	Liver	Liver
7	chr6:133058800-133067600	Weak transcription	Placenta	Placenta
8	chr6:133061400-133098000	Weak transcription	Spleen	Spleen
9	chr6:133061600-133072200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:133062000-133063000	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:133062000-133063000	Genic enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:133062000-133063200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr6:133062200-133063000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
14	chr6:133062600-133063000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr6:133062600-133063200	Genic enhancers	Primary B cells from cord blood	blood
16	chr6:133062600-133070400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:133062800-133063200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:133062800-133065600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:133063000-133063200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr6:133063000-133063600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:133063000-133063600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr6:133063000-133064600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:133063000-133065000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:133063200-133063600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr6:133063200-133064200	Weak transcription	Primary B cells from cord blood	blood
26	chr6:133063200-133064800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:133063600-133063800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr6:133063600-133064000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr6:133063600-133064200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:133063600-133072200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:133063800-133064000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
32	chr6:133063800-133064200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:133064000-133065400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
34	chr6:133064000-133065400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:133064200-133064600	Enhancers	Primary B cells from cord blood	blood
36	chr6:133064200-133064600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr6:133064200-133072000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:133064200-133083000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:133064600-133064800	Genic enhancers	Monocytes-CD14+_RO01746	blood
40	chr6:133064600-133067600	Genic enhancers	Primary B cells from cord blood	blood
41	chr6:133064600-133070400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr6:133064800-133065000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
43	chr6:133064800-133068000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:133064800-133070200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr6:133064800-133078000	Strong transcription	Primary T cells from cord blood	blood
46	chr6:133065000-133065600	Genic enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:133065000-133066200	Genic enhancers	Monocytes-CD14+_RO01746	blood
48	chr6:133065000-133098000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:133065400-133067200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
50	chr6:133065400-133073800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links