Variant report

Variant	nsv871080
Chromosome Location	chr1:47489786-47517123
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	BHLHE40	chr1:47506533-47506550	GM12878	blood:	n/a	n/a
2	CEBPB	chr1:47498924-47499142	MCF-7	breast:	n/a	chr1:47499069-47499078 chr1:47499064-47499081 chr1:47499069-47499078 chr1:47499069-47499078 chr1:47499067-47499080
3	CEBPB	chr1:47498927-47499225	IMR90	lung:	n/a	chr1:47499069-47499078 chr1:47499064-47499081 chr1:47499069-47499078 chr1:47499069-47499078 chr1:47499067-47499080
4	CEBPB	chr1:47498947-47499243	K562	blood:	n/a	chr1:47499069-47499078 chr1:47499064-47499081 chr1:47499069-47499078 chr1:47499069-47499078 chr1:47499067-47499080
5	CEBPB	chr1:47496150-47496401	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:47498926-47499218	A549	lung:	n/a	chr1:47499069-47499078 chr1:47499064-47499081 chr1:47499069-47499078 chr1:47499069-47499078 chr1:47499067-47499080
7	CEBPB	chr1:47498941-47499139	H1-hESC	embryonic stem cell:	n/a	chr1:47499069-47499078 chr1:47499064-47499081 chr1:47499069-47499078 chr1:47499069-47499078 chr1:47499067-47499080
8	CEBPB	chr1:47492324-47492550	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:47498905-47499216	HepG2	liver:	n/a	chr1:47499069-47499078 chr1:47499064-47499081 chr1:47499069-47499078 chr1:47499069-47499078 chr1:47499067-47499080
10	CTCF	chr1:47496049-47496142	GM13976	blood:	n/a	n/a
11	CTCF	chr1:47516976-47517025	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F4	chr1:47514515-47514687	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr1:47496815-47497060	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr1:47510195-47510295	GM12878	blood:	n/a	n/a
15	EP300	chr1:47509773-47509852	GM12878	blood:	n/a	n/a
16	EP300	chr1:47496644-47497159	MCF-7	breast:	n/a	chr1:47496970-47496979
17	EP300	chr1:47494713-47494732	GM12878	blood:	n/a	n/a
18	ESR1	chr1:47496713-47497050	T-47D	breast:	n/a	n/a
19	ESR1	chr1:47496642-47497041	T-47D	breast:	n/a	n/a
20	ESR1	chr1:47496642-47497098	T-47D	breast:	n/a	n/a
21	FOS	chr1:47496170-47496529	HUVEC	blood vessel:	n/a	chr1:47496302-47496311 chr1:47496302-47496312 chr1:47496304-47496311 chr1:47496303-47496312 chr1:47496301-47496313 chr1:47496303-47496311 chr1:47496301-47496312
22	FOS	chr1:47495268-47495468	MCF10A-Er-Src	breast:	n/a	chr1:47495452-47495464
23	FOS	chr1:47498087-47498668	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:47501685-47501939	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:47514675-47514684	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:47498078-47498782	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:47498054-47498760	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr1:47495862-47497618	MCF10A-Er-Src	breast:	n/a	chr1:47496302-47496311 chr1:47496302-47496312 chr1:47496304-47496311 chr1:47496303-47496312 chr1:47496301-47496313 chr1:47496303-47496311 chr1:47496301-47496312
29	FOS	chr1:47496748-47497514	HUVEC	blood vessel:	n/a	n/a
30	FOS	chr1:47497970-47498816	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr1:47496142-47497054	MCF10A-Er-Src	breast:	n/a	chr1:47496302-47496311 chr1:47496302-47496312 chr1:47496304-47496311 chr1:47496303-47496312 chr1:47496301-47496313 chr1:47496303-47496311 chr1:47496301-47496312
32	FOS	chr1:47496016-47497620	MCF10A-Er-Src	breast:	n/a	chr1:47496302-47496311 chr1:47496302-47496312 chr1:47496304-47496311 chr1:47496303-47496312 chr1:47496301-47496313 chr1:47496303-47496311 chr1:47496301-47496312
33	FOS	chr1:47496042-47497616	MCF10A-Er-Src	breast:	n/a	chr1:47496302-47496311 chr1:47496302-47496312 chr1:47496304-47496311 chr1:47496303-47496312 chr1:47496301-47496313 chr1:47496303-47496311 chr1:47496301-47496312
34	FOS	chr1:47497336-47497536	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXA1	chr1:47496645-47497035	HepG2	liver:	n/a	chr1:47496856-47496871
36	FOXA1	chr1:47496647-47497013	T-47D	breast:	n/a	chr1:47496856-47496871
37	FOXA1	chr1:47501186-47501419	HepG2	liver:	n/a	n/a
38	FOXA1	chr1:47501059-47501450	HepG2	liver:	n/a	n/a
39	FOXA1	chr1:47496767-47497073	HepG2	liver:	n/a	chr1:47496856-47496871
40	FOXA1	chr1:47501171-47501475	HepG2	liver:	n/a	n/a
41	FOXA1	chr1:47496719-47497080	A549	lung:	n/a	chr1:47496856-47496871
42	FOXA1	chr1:47496729-47497026	HepG2	liver:	n/a	chr1:47496856-47496871
43	FOXA1	chr1:47496729-47497135	T-47D	breast:	n/a	chr1:47496856-47496871
44	FOXA1	chr1:47496702-47497040	A549	lung:	n/a	chr1:47496856-47496871
45	FOXA1	chr1:47501185-47501480	HepG2	liver:	n/a	n/a
46	FOXA1	chr1:47496720-47496995	HepG2	liver:	n/a	chr1:47496856-47496871
47	FOXA2	chr1:47496638-47497052	A549	lung:	n/a	n/a
48	FOXA2	chr1:47496628-47497123	A549	lung:	n/a	n/a
49	FOXA2	chr1:47501195-47501388	HepG2	liver:	n/a	n/a
50	FOXA2	chr1:47496765-47496977	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47489776-47489826	HEK293	kidney:	embryo
2	chr1:47489776-47489826	HEK293	kidney:	embryo
3	chr1:47493419-47493469	U87	brain:	n/a
4	chr1:47489776-47489826	HIPEpiC	eye:	n/a
5	chr1:47514752-47514802	BE2_C	brain:	n/a
6	chr1:47489776-47489826	ovcar-3	ovarian:	n/a
7	chr1:47493419-47493469	GM12891	blood:	n/a
8	chr1:47514752-47514802	HL-60	blood:	n/a
9	chr1:47514752-47514802	CMK	blood:	n/a
10	chr1:47514752-47514802	GM12878	blood:	n/a
11	chr1:47514752-47514802	ProgFib	skin:	n/a
12	chr1:47514752-47514802	HEEpiC	esophagus:	n/a
13	chr1:47489776-47489826	HCF	heart:	n/a
14	chr1:47493419-47493469	ProgFib	skin:	n/a
15	chr1:47514752-47514802	HCF	heart:	n/a
16	chr1:47489776-47489826	SK-N-SH	brain:	n/a
17	chr1:47514752-47514802	HRE	kidney:	n/a
18	chr1:47493419-47493469	HepG2	liver:	n/a
19	chr1:47489776-47489826	BE2_C	brain:	n/a
20	chr1:47489776-47489826	AG04450	lung:	fetal
21	chr1:47493419-47493469	HCF	heart:	n/a
22	chr1:47489776-47489826	Hepatocyte	liver:	n/a
23	chr1:47493419-47493469	Hepatocyte	liver:	n/a
24	chr1:47489776-47489826	GM12878	blood:	n/a
25	chr1:47514752-47514802	H1-hESC	embryonic stem cell:	embryo
26	chr1:47489776-47489826	AG04449	skin:	fetal
27	chr1:47493419-47493469	SAEC	small airway:	n/a
28	chr1:47493419-47493469	A549	lung:	n/a
29	chr1:47489776-47489826	GM12891	blood:	n/a
30	chr1:47493419-47493469	GM12878	blood:	n/a
31	chr1:47489776-47489826	HepG2	liver:	n/a
32	chr1:47493419-47493469	SK-N-SH	brain:	n/a
33	chr1:47489776-47489826	NHDF-neo	bronchial:	n/a
34	chr1:47489776-47489826	U87	brain:	n/a
35	chr1:47514752-47514802	K562	blood:	n/a
36	chr1:47493419-47493469	AoSMC	blood vessel:	n/a
37	chr1:47514752-47514802	SK-N-SH	brain:	n/a
38	chr1:47489776-47489826	CMK	blood:	n/a
39	chr1:47489776-47489826	Caco-2	colon:	n/a
40	chr1:47489776-47489826	GM19239	blood:	n/a
41	chr1:47493419-47493469	AG04449	skin:	fetal
42	chr1:47514752-47514802	A549	lung:	n/a
43	chr1:47514752-47514802	SAEC	small airway:	n/a
44	chr1:47493419-47493469	AG09309	skin:	n/a
45	chr1:47493419-47493469	H1-hESC	embryonic stem cell:	embryo
46	chr1:47489776-47489826	HCPEpiC	choroid plexus:	n/a
47	chr1:47493419-47493469	HNPCEpiC	eye:	n/a
48	chr1:47489776-47489826	NH-A	brain:	n/a
49	chr1:47493419-47493469	Hela-S3	cervix:	n/a
50	chr1:47489776-47489826	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47481637..47484566-chr1:47494285..47496054,2	K562	blood:
2	chr1:47497049..47498622-chr1:47515812..47517726,2	MCF-7	breast:
3	chr1:47489896..47492133-chr1:47492275..47494697,2	K562	blood:
4	chr1:47500877..47503360-chr1:47503581..47505847,2	K562	blood:
5	chr1:47497049..47498622-chr1:47515812..47517726,2	MCF-7	breast:
6	chr1:47489896..47492133-chr1:47492275..47494697,2	K562	blood:

Variant related genes	Relation type
CYP4X1	TF binding region
CYP4X1	CpG island
ENSG00000186377	chromatin interactions

Extended variants
information (count: 957 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:957 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2036462	chr1:47489786-47489787	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558253703	chr1:47489794-47489795	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557731759	chr1:47489795-47489796	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568738179	chr1:47489796-47489797	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529533653	chr1:47489838-47489839	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs111783250	chr1:47489842-47489843	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112563041	chr1:47489915-47489916	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs568407658	chr1:47489952-47489953	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183665344	chr1:47490078-47490079	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145581426	chr1:47490080-47490081	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs116478445	chr1:47490144-47490145	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558369430	chr1:47490230-47490231	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570144882	chr1:47490246-47490247	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs186881357	chr1:47490255-47490256	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192217378	chr1:47490274-47490275	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs11582076	chr1:47490291-47490292	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs72890400	chr1:47490307-47490308	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183112870	chr1:47490386-47490387	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534172554	chr1:47490438-47490439	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187832302	chr1:47490442-47490443	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553928019	chr1:47490487-47490488	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs76692053	chr1:47490572-47490573	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546307831	chr1:47490638-47490639	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564556034	chr1:47490724-47490725	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs72890402	chr1:47490744-47490745	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543811427	chr1:47490793-47490794	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs77025411	chr1:47490819-47490820	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs529553129	chr1:47490840-47490841	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs146786267	chr1:47490857-47490858	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140462364	chr1:47490865-47490866	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs372631659	chr1:47490872-47490873	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115955363	chr1:47490883-47490884	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs1553391	chr1:47490974-47490975	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372969677	chr1:47491103-47491104	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs143660444	chr1:47491170-47491171	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555699105	chr1:47491184-47491185	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576392246	chr1:47491229-47491230	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs55802147	chr1:47491255-47491256	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148104296	chr1:47491262-47491263	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs553760854	chr1:47491317-47491318	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs60371503	chr1:47491358-47491359	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs9701154	chr1:47491360-47491361	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182227389	chr1:47491383-47491384	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs576559748	chr1:47491393-47491394	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543849182	chr1:47491394-47491395	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs188217309	chr1:47491546-47491547	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150238868	chr1:47491572-47491573	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs139276459	chr1:47491579-47491580	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs143304532	chr1:47491609-47491610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559759510	chr1:47491611-47491612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Adenocarcinoma	19001599	CNVD
Non-small cell lung cancer	19001599	CNVD
Squamous cell cancer	19001599	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47488800-47489800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
2	chr1:47488800-47490000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:47488800-47490000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:47488800-47490000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:47488800-47490000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:47488800-47490400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr1:47488800-47490400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:47488800-47490600	Active TSS	Brain Anterior Caudate	brain
9	chr1:47489000-47489800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:47489000-47489800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:47489000-47489800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:47489000-47489800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:47489000-47490000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr1:47489000-47490000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr1:47489000-47490000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:47489000-47490000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr1:47489000-47490000	Active TSS	Psoas Muscle	Psoas
18	chr1:47489000-47490200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:47489000-47490200	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr1:47489000-47490200	Bivalent/Poised TSS	Fetal Kidney	kidney
21	chr1:47489000-47490200	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr1:47489000-47490400	Active TSS	Aorta	Aorta
23	chr1:47489000-47490400	Active TSS	Brain Angular Gyrus	brain
24	chr1:47489000-47490400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
25	chr1:47489200-47489800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:47489200-47489800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:47489200-47489800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:47489200-47489800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:47489200-47489800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
30	chr1:47489200-47489800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr1:47489200-47489800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:47489200-47489800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:47489200-47489800	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr1:47489200-47489800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr1:47489200-47489800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr1:47489200-47489800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr1:47489200-47489800	Active TSS	Gastric	stomach
38	chr1:47489200-47489800	Active TSS	Lung	lung
39	chr1:47489200-47489800	Flanking Active TSS	Pancreas	Pancrea
40	chr1:47489200-47489800	Active TSS	Rectal Smooth Muscle	rectum
41	chr1:47489200-47489800	Bivalent/Poised TSS	Right Ventricle	heart
42	chr1:47489200-47489800	Enhancers	Spleen	Spleen
43	chr1:47489200-47489800	Flanking Bivalent TSS/Enh	HMEC	breast
44	chr1:47489200-47490000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:47489200-47490000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:47489200-47490000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:47489200-47490000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:47489200-47490000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:47489200-47490000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:47489200-47490000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links