Variant report

Variant	esv1815481
Chromosome Location	chr1:154465065-154475033
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	chr1:154469451-154469762	K562	blood:	n/a	n/a
2	ATF1	chr1:154469515-154469756	K562	blood:	n/a	n/a
3	ATF2	chr1:154469634-154470172	GM12878	blood:	n/a	n/a
4	BACH1	chr1:154474694-154474836	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr1:154469729-154470238	GM12878	blood:	n/a	n/a
6	BATF	chr1:154469481-154470173	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:154469500-154469765	K562	blood:	n/a	n/a
8	BHLHE40	chr1:154474924-154475153	GM12878	blood:	n/a	chr1:154475043-154475059 chr1:154474975-154474991 chr1:154475094-154475110
9	CBX3	chr1:154469444-154469948	K562	blood:	n/a	n/a
10	CCNT2	chr1:154469535-154469815	K562	blood:	n/a	n/a
11	CEBPB	chr1:154474183-154474434	HepG2	liver:	n/a	chr1:154474300-154474311
12	CEBPB	chr1:154474124-154474479	ECC-1	luminal epithelium:	n/a	chr1:154474300-154474311
13	CEBPB	chr1:154474120-154474489	IMR90	lung:	n/a	chr1:154474300-154474311
14	CEBPB	chr1:154473971-154474633	A549	lung:	n/a	chr1:154474300-154474311
15	CEBPB	chr1:154474136-154474472	A549	lung:	n/a	chr1:154474300-154474311
16	CEBPB	chr1:154474069-154474504	H1-hESC	embryonic stem cell:	n/a	chr1:154474300-154474311
17	CEBPB	chr1:154474117-154474492	HepG2	liver:	n/a	chr1:154474300-154474311
18	CEBPB	chr1:154474047-154474519	MCF-7	breast:	n/a	chr1:154474300-154474311
19	CEBPB	chr1:154474221-154474356	HepG2	liver:	n/a	chr1:154474300-154474311
20	CEBPB	chr1:154474119-154474493	K562	blood:	n/a	chr1:154474300-154474311
21	CEBPB	chr1:154474207-154474525	A549	lung:	n/a	chr1:154474300-154474311
22	CEBPB	chr1:154467405-154467637	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr1:154474271-154474320	Hela-S3	cervix:	n/a	chr1:154474300-154474311
24	CEBPB	chr1:154474135-154474513	MCF-7	breast:	n/a	chr1:154474300-154474311
25	CEBPB	chr1:154474046-154474595	ECC-1	luminal epithelium:	n/a	chr1:154474300-154474311
26	CEBPB	chr1:154474201-154474450	K562	blood:	n/a	chr1:154474300-154474311
27	CEBPB	chr1:154474113-154474492	HepG2	liver:	n/a	chr1:154474300-154474311
28	CEBPD	chr1:154469383-154469907	K562	blood:	n/a	n/a
29	CTCF	chr1:154471740-154471890	GM12869	blood:	n/a	n/a
30	CTCF	chr1:154465860-154466010	GM12873	blood:	n/a	n/a
31	CTCF	chr1:154465903-154466003	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr1:154465900-154466050	GM06990	blood:	n/a	n/a
33	CTCF	chr1:154465860-154466010	HL-60	blood:	n/a	n/a
34	CTCF	chr1:154465880-154466030	GM12865	blood:	n/a	n/a
35	CTCF	chr1:154465860-154466010	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr1:154465920-154466070	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr1:154465840-154465990	GM12864	blood:	n/a	n/a
38	CTCF	chr1:154465900-154466050	GM12874	blood:	n/a	n/a
39	CTCF	chr1:154465900-154466050	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr1:154465910-154466020	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr1:154473000-154473150	NHLF	lung:	n/a	n/a
42	CTCF	chr1:154465920-154466070	K562	blood:	n/a	n/a
43	CTCF	chr1:154474920-154475070	HUVEC	blood vessel:	n/a	chr1:154474958-154474971 chr1:154474956-154474974
44	CUX1	chr1:154469405-154469921	GM12878	blood:	n/a	n/a
45	CUX1	chr1:154464614-154465267	GM12878	blood:	n/a	n/a
46	E2F6	chr1:154474013-154475849	H1-hESC	embryonic stem cell:	n/a	chr1:154475683-154475692 chr1:154474738-154474747 chr1:154475247-154475254 chr1:154474983-154474992 chr1:154475362-154475374 chr1:154475038-154475048
47	E2F6	chr1:154473973-154475840	H1-hESC	embryonic stem cell:	n/a	chr1:154475683-154475692 chr1:154474738-154474747 chr1:154475247-154475254 chr1:154474983-154474992 chr1:154475362-154475374 chr1:154475038-154475048
48	EBF1	chr1:154469566-154470035	GM12878	blood:	n/a	chr1:154469863-154469872
49	EBF1	chr1:154464474-154465450	GM12878	blood:	n/a	n/a
50	EBF1	chr1:154469043-154469312	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154474800-154474850	MCF10A-Er-Src	breast:	n/a
2	chr1:154474800-154474850	MCF10A-Er-Src	breast:	n/a
3	chr1:154474518-154474568	Caco-2	colon:	n/a
4	chr1:154474518-154474568	HRE	kidney:	n/a
5	chr1:154474800-154474850	SKMC	muscle:	n/a
6	chr1:154474344-154474394	H1-hESC	embryonic stem cell:	embryo
7	chr1:154471433-154471483	SKMC	muscle:	n/a
8	chr1:154474518-154474568	NB4	blood:	n/a
9	chr1:154474108-154474158	A549	lung:	n/a
10	chr1:154474108-154474158	RPTEC	kidney:	n/a
11	chr1:154471433-154471483	ECC-1	luminal epithelium:	n/a
12	chr1:154473340-154473390	HEEpiC	esophagus:	n/a
13	chr1:154474800-154474850	AG10803	skin:	n/a
14	chr1:154474530-154474580	AG10803	skin:	n/a
15	chr1:154471433-154471483	PrEC	prostate:	n/a
16	chr1:154473340-154473390	BJ	skin:	n/a
17	chr1:154474528-154474578	HCPEpiC	choroid plexus:	n/a
18	chr1:154472292-154472342	U87	brain:	n/a
19	chr1:154474530-154474580	HCM	heart:	n/a
20	chr1:154474108-154474158	HRPEpiC	eye:	n/a
21	chr1:154474528-154474578	Hela-S3	cervix:	n/a
22	chr1:154474108-154474158	SKMC	muscle:	n/a
23	chr1:154474528-154474578	HRCEpiC	kidney:	n/a
24	chr1:154474528-154474578	ovcar-3	ovarian:	n/a
25	chr1:154474344-154474394	NHBE	bronchial:	n/a
26	chr1:154474108-154474158	NHDF-neo	bronchial:	n/a
27	chr1:154472292-154472342	Caco-2	colon:	n/a
28	chr1:154474528-154474578	BJ	skin:	n/a
29	chr1:154471433-154471483	GM19239	blood:	n/a
30	chr1:154471433-154471483	AoSMC	blood vessel:	n/a
31	chr1:154474530-154474580	H1-hESC	embryonic stem cell:	embryo
32	chr1:154473340-154473390	Hela-S3	cervix:	n/a
33	chr1:154473340-154473390	HL-60	blood:	n/a
34	chr1:154474344-154474394	AG04450	lung:	fetal
35	chr1:154474108-154474158	HUVEC	blood vessel:	n/a
36	chr1:154474108-154474158	MCF-7	breast:	n/a
37	chr1:154474800-154474850	PFSK-1	brain:	n/a
38	chr1:154471433-154471483	GM12891	blood:	n/a
39	chr1:154474800-154474850	HRPEpiC	eye:	n/a
40	chr1:154473340-154473390	HMEC	breast:	n/a
41	chr1:154471433-154471483	LNCaP	prostate:	n/a
42	chr1:154474108-154474158	HEEpiC	esophagus:	n/a
43	chr1:154472292-154472342	NHBE	bronchial:	n/a
44	chr1:154474800-154474850	SAEC	small airway:	n/a
45	chr1:154474800-154474850	GM12891	blood:	n/a
46	chr1:154474518-154474568	HCF	heart:	n/a
47	chr1:154474530-154474580	HEEpiC	esophagus:	n/a
48	chr1:154474518-154474568	U87	brain:	n/a
49	chr1:154471433-154471483	IMR90	lung:	fetal
50	chr1:154474344-154474394	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154465559..154467468-chr1:154471181..154472753,2	K562	blood:
2	chr1:154473384..154476326-chr1:154529885..154532539,2	MCF-7	breast:
3	chr1:154461284..154463357-chr1:154466241..154467860,2	K562	blood:
4	chr1:154456945..154459327-chr1:154465899..154468157,2	K562	blood:
5	chr1:154452362..154452943-chr1:154471894..154472640,2	MCF-7	breast:
6	chr1:154465559..154467468-chr1:154471181..154472753,2	K562	blood:
7	chr1:154191216..154193063-chr1:154472171..154474701,2	K562	blood:

Variant related genes	Relation type
TDRD10	TF binding region
SHE	TF binding region
TDRD10	CpG island
SHE	CpG island
ENSG00000273110	chromatin interactions
ENSG00000143612	chromatin interactions
ENSG00000169291	chromatin interactions
ENSG00000160714	chromatin interactions
ENSG00000143569	chromatin interactions

Extended variants
information (count: 401 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:401 , 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	rs6427694	chr1:154465065-154465066	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186663419	chr1:154465110-154465111	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs149145069	chr1:154465131-154465132	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs534117070	chr1:154465140-154465141	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559480442	chr1:154465225-154465226	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs143280528	chr1:154465229-154465230	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571274917	chr1:154465266-154465267	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538378072	chr1:154465305-154465306	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs530181283	chr1:154465329-154465330	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs556883239	chr1:154465399-154465400	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs541879656	chr1:154465456-154465457	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557444841	chr1:154465457-154465458	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201337223	chr1:154465495-154465496	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs191114355	chr1:154465540-154465541	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs138902050	chr1:154465542-154465543	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs73018293	chr1:154465577-154465578	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs543196985	chr1:154465592-154465593	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372979828	chr1:154465599-154465600	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs573218267	chr1:154465748-154465749	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs540391953	chr1:154465749-154465750	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564951911	chr1:154465783-154465784	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs532600609	chr1:154465804-154465805	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111866734	chr1:154465812-154465813	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563025215	chr1:154465837-154465838	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs145797324	chr1:154465847-154465848	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548217042	chr1:154465851-154465852	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs566782783	chr1:154465904-154465905	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs527980626	chr1:154465905-154465906	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs117869239	chr1:154465924-154465925	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182910435	chr1:154465993-154465994	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375391326	chr1:154465995-154465996	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs538468201	chr1:154465996-154465997	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528769960	chr1:154466007-154466008	Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369671290	chr1:154466010-154466011	Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556759650	chr1:154466027-154466028	Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs138456407	chr1:154466047-154466048	Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536247827	chr1:154466088-154466089	Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs115921012	chr1:154466100-154466101	Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75485862	chr1:154466121-154466122	Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12095082	chr1:154466145-154466146	Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs6686276	chr1:154466188-154466189	Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558845359	chr1:154466214-154466215	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576938348	chr1:154466221-154466222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs59838898	chr1:154466301-154466302	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs561264906	chr1:154466318-154466319	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562830675	chr1:154466326-154466327	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530143459	chr1:154466332-154466333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186557664	chr1:154466404-154466405	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs560135924	chr1:154466448-154466449	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs527944802	chr1:154466503-154466504	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154441600-154465200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:154451600-154465600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:154458600-154469000	Weak transcription	Small Intestine	intestine
4	chr1:154459400-154465600	Weak transcription	Liver	Liver
5	chr1:154461400-154466400	Enhancers	Spleen	Spleen
6	chr1:154461800-154465600	Enhancers	Adipose Nuclei	Adipose
7	chr1:154461800-154465800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:154461800-154467000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:154461800-154473800	Weak transcription	Pancreas	Pancrea
10	chr1:154462800-154465400	Enhancers	Primary B cells from cord blood	blood
11	chr1:154462800-154467200	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:154463000-154468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:154463200-154466200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:154463200-154467600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:154463600-154465400	Genic enhancers	HUVEC	blood vessel
16	chr1:154463800-154465400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:154464000-154466600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:154464000-154472400	Weak transcription	Lung	lung
19	chr1:154464200-154465400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:154464200-154465400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:154464200-154465400	Enhancers	Placenta	Placenta
22	chr1:154464200-154465800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:154464200-154466600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:154464200-154466800	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:154464200-154467600	Weak transcription	Right Ventricle	heart
26	chr1:154464400-154465600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:154464600-154465800	Enhancers	Primary T cells from cord blood	blood
28	chr1:154464600-154465800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:154464600-154466000	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:154464600-154466000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:154464600-154466400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:154464600-154466600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:154464600-154466600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:154464600-154467000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:154464800-154465400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:154464800-154466000	Bivalent Enhancer	Fetal Thymus	thymus
37	chr1:154464800-154466200	Enhancers	Brain Anterior Caudate	brain
38	chr1:154464800-154466600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:154464800-154466600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr1:154464800-154466600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:154464800-154466600	Enhancers	GM12878-XiMat	blood
42	chr1:154464800-154466800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:154464800-154467400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr1:154464800-154469800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:154465000-154465200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:154465000-154465200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr1:154465000-154465400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:154465000-154466600	Enhancers	K562	blood
49	chr1:154465000-154466600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr1:154465000-154467000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links