Variant report

Variant	nsv1004143
Chromosome Location	chr1:47270942-47321982
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	ATF1	chr1:47298656-47298680	K562	blood:	n/a	n/a
2	CEBPB	chr1:47272435-47272799	MCF-7	breast:	n/a	chr1:47272566-47272577 chr1:47272565-47272578
3	CEBPB	chr1:47275958-47276196	IMR90	lung:	n/a	chr1:47276116-47276125 chr1:47276116-47276125 chr1:47276114-47276125 chr1:47276116-47276125 chr1:47276114-47276127 chr1:47276116-47276127 chr1:47276116-47276125
4	CEBPB	chr1:47272292-47272727	HepG2	liver:	n/a	chr1:47272566-47272577 chr1:47272565-47272578
5	CEBPB	chr1:47272508-47272610	K562	blood:	n/a	chr1:47272566-47272577 chr1:47272565-47272578
6	CEBPB	chr1:47272175-47272836	MCF-7	breast:	n/a	chr1:47272566-47272577 chr1:47272565-47272578
7	CEBPB	chr1:47272465-47272698	IMR90	lung:	n/a	chr1:47272566-47272577 chr1:47272565-47272578
8	CEBPB	chr1:47275979-47276251	K562	blood:	n/a	chr1:47276116-47276125 chr1:47276116-47276125 chr1:47276114-47276125 chr1:47276116-47276125 chr1:47276114-47276127 chr1:47276116-47276127 chr1:47276116-47276125
9	CEBPB	chr1:47272347-47272776	ECC-1	luminal epithelium:	n/a	chr1:47272566-47272577 chr1:47272565-47272578
10	CEBPB	chr1:47272373-47272770	ECC-1	luminal epithelium:	n/a	chr1:47272566-47272577 chr1:47272565-47272578
11	CEBPB	chr1:47272476-47272676	H1-hESC	embryonic stem cell:	n/a	chr1:47272566-47272577 chr1:47272565-47272578
12	CEBPB	chr1:47275993-47276259	HepG2	liver:	n/a	chr1:47276116-47276125 chr1:47276116-47276125 chr1:47276114-47276125 chr1:47276116-47276125 chr1:47276114-47276127 chr1:47276116-47276127 chr1:47276116-47276125
13	CEBPB	chr1:47272398-47272736	Hela-S3	cervix:	n/a	chr1:47272566-47272577 chr1:47272565-47272578
14	CTCF	chr1:47272920-47273070	NHEK	skin:	n/a	n/a
15	CTCF	chr1:47319385-47319452	GM10248	blood:	n/a	n/a
16	CTCF	chr1:47286580-47286730	HepG2	liver:	n/a	n/a
17	CTCF	chr1:47272820-47272970	Caco-2	colon:	n/a	n/a
18	CTCF	chr1:47272840-47272990	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr1:47272820-47272970	HepG2	liver:	n/a	n/a
20	CTCF	chr1:47301249-47301462	K562	blood:	n/a	n/a
21	CTCF	chr1:47301131-47301466	MCF-7	breast:	n/a	n/a
22	CTCF	chr1:47309970-47310041	GM20000	blood:	n/a	n/a
23	CTCF	chr1:47288160-47288310	HEK293	kidney:	n/a	n/a
24	CTCF	chr1:47316744-47316904	GM10248	blood:	n/a	n/a
25	CTCF	chr1:47272878-47272978	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:47288047-47288130	K562	blood:	n/a	n/a
27	CTCF	chr1:47301260-47301410	A549	lung:	n/a	n/a
28	CTCF	chr1:47316746-47316904	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr1:47301145-47301455	K562	blood:	n/a	n/a
30	CTCF	chr1:47288540-47288690	NHEK	skin:	n/a	n/a
31	CTCF	chr1:47301140-47301290	HCT-116	colon:	n/a	n/a
32	CTCF	chr1:47301260-47301410	HCT-116	colon:	n/a	n/a
33	CTCF	chr1:47301253-47301414	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:47288040-47288190	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr1:47278520-47278670	GM12872	blood:	n/a	chr1:47278531-47278540
36	CTCF	chr1:47288021-47288125	K562	blood:	n/a	n/a
37	CTCF	chr1:47301299-47301399	NHEK	skin:	n/a	n/a
38	CTCF	chr1:47301244-47301437	K562	blood:	n/a	n/a
39	CTCF	chr1:47272840-47272990	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr1:47301280-47301430	HepG2	liver:	n/a	n/a
41	CTCF	chr1:47272960-47273110	NHEK	skin:	n/a	n/a
42	CTCF	chr1:47301261-47301411	MCF-7	breast:	n/a	n/a
43	CTCF	chr1:47301323-47301325	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:47288492-47288561	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr1:47301240-47301390	HEK293	kidney:	n/a	n/a
46	CTCF	chr1:47301183-47301420	K562	blood:	n/a	n/a
47	CTCF	chr1:47301240-47301390	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr1:47272860-47273010	SAEC	small airway:	n/a	n/a
49	CTCF	chr1:47272860-47272917	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:47272920-47273070	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47279985-47280035	SKMC	muscle:	n/a
2	chr1:47279985-47280035	Caco-2	colon:	n/a
3	chr1:47284627-47284677	HCPEpiC	choroid plexus:	n/a
4	chr1:47284627-47284677	AoSMC	blood vessel:	n/a
5	chr1:47284627-47284677	AG10803	skin:	n/a
6	chr1:47279985-47280035	AG09309	skin:	n/a
7	chr1:47279985-47280035	NH-A	brain:	n/a
8	chr1:47284627-47284677	HCF	heart:	n/a
9	chr1:47279985-47280035	MCF10A-Er-Src	breast:	n/a
10	chr1:47279985-47280035	SK-N-MC	brain:	n/a
11	chr1:47284627-47284677	ovcar-3	ovarian:	n/a
12	chr1:47284627-47284677	HEEpiC	esophagus:	n/a
13	chr1:47279985-47280035	U87	brain:	n/a
14	chr1:47284627-47284677	BE2_C	brain:	n/a
15	chr1:47284627-47284677	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:47284627-47284677	IMR90	lung:	fetal
17	chr1:47279985-47280035	Hela-S3	cervix:	n/a
18	chr1:47279985-47280035	SAEC	small airway:	n/a
19	chr1:47284627-47284677	ProgFib	skin:	n/a
20	chr1:47279985-47280035	SK-N-SH_RA	brain:	n/a
21	chr1:47284627-47284677	HMEC	breast:	n/a
22	chr1:47279985-47280035	ECC-1	luminal epithelium:	n/a
23	chr1:47284627-47284677	NH-A	brain:	n/a
24	chr1:47279985-47280035	H1-hESC	embryonic stem cell:	embryo
25	chr1:47284627-47284677	HRPEpiC	eye:	n/a
26	chr1:47284627-47284677	LNCaP	prostate:	n/a
27	chr1:47279985-47280035	AG09319	gingival:	n/a
28	chr1:47284627-47284677	HAEpiC	amniotic membrane:	n/a
29	chr1:47279985-47280035	PrEC	prostate:	n/a
30	chr1:47284627-47284677	RPTEC	kidney:	n/a
31	chr1:47279985-47280035	GM12891	blood:	n/a
32	chr1:47284627-47284677	PFSK-1	brain:	n/a
33	chr1:47284627-47284677	PANC-1	pancreas:	n/a
34	chr1:47284627-47284677	ECC-1	luminal epithelium:	n/a
35	chr1:47284627-47284677	BJ	skin:	n/a
36	chr1:47284627-47284677	AG09319	gingival:	n/a
37	chr1:47279985-47280035	HIPEpiC	eye:	n/a
38	chr1:47279985-47280035	HUVEC	blood vessel:	n/a
39	chr1:47279985-47280035	PFSK-1	brain:	n/a
40	chr1:47279985-47280035	GM06990	blood:	n/a
41	chr1:47279985-47280035	LNCaP	prostate:	n/a
42	chr1:47284627-47284677	AG04449	skin:	fetal
43	chr1:47284627-47284677	NT2-D1	testis:	n/a
44	chr1:47279985-47280035	ovcar-3	ovarian:	n/a
45	chr1:47279985-47280035	HMEC	breast:	n/a
46	chr1:47284627-47284677	SK-N-SH	brain:	n/a
47	chr1:47279985-47280035	AG04450	lung:	fetal
48	chr1:47284627-47284677	AG04450	lung:	fetal
49	chr1:47284627-47284677	A549	lung:	n/a
50	chr1:47284627-47284677	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47266762..47268483-chr1:47274674..47276282,2	MCF-7	breast:
2	chr1:47272192..47274421-chr1:47282299..47283950,2	K562	blood:
3	chr1:47275758..47278616-chr1:47280662..47283634,2	K562	blood:
4	chr1:47282268..47284457-chr1:47286910..47288924,2	K562	blood:
5	chr1:47272192..47274421-chr1:47282299..47283950,2	K562	blood:
6	chr1:47275758..47278616-chr1:47280662..47283634,2	K562	blood:
7	chr1:47274872..47277380-chr1:47277423..47279681,2	K562	blood:
8	chr1:47270918..47272980-chr1:47278589..47280565,2	K562	blood:
9	chr1:47263957..47267463-chr1:47271063..47272982,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATPAF1-AS1-2	chr1:47276480-47276522	NONHSAT003037

Variant related genes	Relation type
CYP4B1	TF binding region
CYP4B1	CpG island
ENSG00000142973	chromatin interactions

Extended variants
information (count: 1839 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1839 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575674167	chr1:47270949-47270950	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372826096	chr1:47270986-47270987	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs57333973	chr1:47270987-47270988	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs56942784	chr1:47270989-47270990	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs74072911	chr1:47271019-47271020	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4646480	chr1:47271026-47271027	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs548117075	chr1:47271050-47271051	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374702597	chr1:47271086-47271087	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184309945	chr1:47271129-47271130	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs538220791	chr1:47271149-47271150	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138717692	chr1:47271188-47271189	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189002539	chr1:47271238-47271239	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376240966	chr1:47271246-47271247	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs3766204	chr1:47271283-47271284	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114782717	chr1:47271290-47271291	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542952697	chr1:47271314-47271315	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141182505	chr1:47271332-47271333	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115241921	chr1:47271343-47271344	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181684062	chr1:47271394-47271395	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72886530	chr1:47271418-47271419	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187049459	chr1:47271423-47271424	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572202880	chr1:47271509-47271510	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs4646481	chr1:47271538-47271539	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs190244660	chr1:47271565-47271566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs150745614	chr1:47271586-47271587	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs4646482	chr1:47271600-47271601	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1890252	chr1:47271611-47271612	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529344515	chr1:47271617-47271618	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs45611432	chr1:47271646-47271647	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182427120	chr1:47271674-47271675	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs139132088	chr1:47271684-47271685	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs59186786	chr1:47271732-47271733	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570254533	chr1:47271809-47271810	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs537502998	chr1:47271842-47271843	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs112483812	chr1:47271921-47271922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565047771	chr1:47271978-47271979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549475312	chr1:47272022-47272023	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs45473993	chr1:47272051-47272052	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535126072	chr1:47272151-47272152	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs2405335	chr1:47272185-47272186	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs4425929	chr1:47272206-47272207	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572211698	chr1:47272236-47272237	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs550656647	chr1:47272244-47272245	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539742962	chr1:47272246-47272247	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189875859	chr1:47272257-47272258	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557619178	chr1:47272323-47272324	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs576313179	chr1:47272338-47272339	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543922278	chr1:47272349-47272350	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs182477764	chr1:47272374-47272375	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs574058702	chr1:47272395-47272396	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47265400-47271400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:47265600-47271800	Weak transcription	Spleen	Spleen
3	chr1:47265600-47279200	Weak transcription	Gastric	stomach
4	chr1:47266400-47273800	Enhancers	Placenta	Placenta
5	chr1:47266800-47271600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:47267800-47273000	Enhancers	Esophagus	oesophagus
7	chr1:47267800-47273600	Enhancers	Lung	lung
8	chr1:47268000-47271600	Weak transcription	Fetal Intestine Large	intestine
9	chr1:47268400-47273600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:47268600-47271200	Enhancers	Right Ventricle	heart
11	chr1:47269600-47271000	Enhancers	Stomach Mucosa	stomach
12	chr1:47269600-47271200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:47269800-47271000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:47269800-47271200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:47269800-47271600	Enhancers	Right Atrium	heart
16	chr1:47269800-47271800	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:47269800-47272400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr1:47269800-47273600	Enhancers	Left Ventricle	heart
19	chr1:47270000-47271600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:47270400-47271400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:47270600-47271000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:47270600-47273600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:47270800-47271000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:47270800-47272000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:47271000-47271200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:47271000-47271600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:47271000-47272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:47271000-47272000	Weak transcription	Stomach Mucosa	stomach
29	chr1:47271200-47272000	Enhancers	Duodenum Mucosa	Duodenum
30	chr1:47271200-47273000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:47271200-47273000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr1:47271200-47273200	Weak transcription	Right Ventricle	heart
33	chr1:47271400-47273600	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:47271400-47273800	Enhancers	Fetal Intestine Small	intestine
35	chr1:47271600-47271800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr1:47271600-47271800	Flanking Active TSS	Right Atrium	heart
37	chr1:47271600-47272000	Enhancers	Colon Smooth Muscle	Colon
38	chr1:47271600-47272400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr1:47271600-47273000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:47271600-47273800	Enhancers	Fetal Intestine Large	intestine
41	chr1:47271800-47272000	Enhancers	Right Atrium	heart
42	chr1:47271800-47272000	Active TSS	Stomach Smooth Muscle	stomach
43	chr1:47271800-47272200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:47271800-47272200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:47271800-47272200	Enhancers	Brain Anterior Caudate	brain
46	chr1:47271800-47273400	Enhancers	Spleen	Spleen
47	chr1:47271800-47273600	Enhancers	Fetal Muscle Leg	muscle
48	chr1:47272000-47272200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr1:47272000-47272200	Flanking Active TSS	Right Atrium	heart
50	chr1:47272000-47272200	Enhancers	Stomach Mucosa	stomach

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