Variant report

Variant	esv3340867
Chromosome Location	chr4:78739453-78742301
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	chr4:78741301-78741788	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:78741127-78741751	K562	blood:	n/a	n/a
3	ARID3A	chr4:78738551-78739884	HepG2	liver:	n/a	chr4:78739592-78739608
4	ARID3A	chr4:78742087-78742370	HepG2	liver:	n/a	n/a
5	ATF1	chr4:78741267-78741763	K562	blood:	n/a	n/a
6	ATF2	chr4:78741450-78742136	GM12878	blood:	n/a	n/a
7	ATF2	chr4:78741169-78741811	GM12878	blood:	n/a	n/a
8	ATF2	chr4:78739303-78739934	GM12878	blood:	n/a	n/a
9	BACH1	chr4:78739516-78740668	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr4:78741579-78741811	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr4:78741265-78741324	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:78740390-78740590	K562	blood:	n/a	n/a
13	BCLAF1	chr4:78739244-78740197	GM12878	blood:	n/a	chr4:78740059-78740072 chr4:78739971-78739984 chr4:78740060-78740073
14	BCLAF1	chr4:78740282-78740756	GM12878	blood:	n/a	chr4:78740643-78740656 chr4:78740648-78740657
15	BCLAF1	chr4:78740969-78741793	GM12878	blood:	n/a	chr4:78741478-78741487 chr4:78741435-78741444 chr4:78741025-78741038 chr4:78741717-78741725 chr4:78741202-78741215 chr4:78741204-78741217 chr4:78741024-78741037
16	BCLAF1	chr4:78739679-78740049	GM12878	blood:	n/a	chr4:78739971-78739984
17	BCLAF1	chr4:78741000-78741946	GM12878	blood:	n/a	chr4:78741478-78741487 chr4:78741435-78741444 chr4:78741025-78741038 chr4:78741717-78741725 chr4:78741202-78741215 chr4:78741204-78741217 chr4:78741024-78741037
18	BHLHE40	chr4:78739767-78740169	HepG2	liver:	n/a	chr4:78740062-78740078
19	BHLHE40	chr4:78739220-78740500	K562	blood:	n/a	chr4:78740062-78740078
20	BHLHE40	chr4:78739710-78740704	GM12878	blood:	n/a	chr4:78740062-78740078
21	BHLHE40	chr4:78741125-78742120	K562	blood:	n/a	chr4:78741201-78741217 chr4:78741226-78741242 chr4:78741202-78741218
22	BHLHE40	chr4:78741151-78741656	HepG2	liver:	n/a	chr4:78741201-78741217 chr4:78741226-78741242 chr4:78741202-78741218
23	BHLHE40	chr4:78740971-78741973	GM12878	blood:	n/a	chr4:78741201-78741217 chr4:78741226-78741242 chr4:78741202-78741218
24	BRCA1	chr4:78741564-78741670	GM12878	blood:	n/a	n/a
25	BRCA1	chr4:78739878-78739945	HepG2	liver:	n/a	n/a
26	BRCA1	chr4:78741166-78741274	GM12878	blood:	n/a	n/a
27	BRCA1	chr4:78739990-78740013	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr4:78739324-78739968	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr4:78741162-78741360	HepG2	liver:	n/a	n/a
30	BRCA1	chr4:78741228-78742188	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr4:78740986-78741771	K562	blood:	n/a	n/a
32	CCNT2	chr4:78739224-78741754	K562	blood:	n/a	chr4:78741442-78741451 chr4:78741506-78741515
33	CEBPB	chr4:78739401-78739861	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr4:78739319-78739929	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr4:78742102-78742603	IMR90	lung:	n/a	chr4:78742177-78742188 chr4:78742177-78742188 chr4:78742443-78742456 chr4:78742443-78742454
36	CEBPB	chr4:78742070-78742630	K562	blood:	n/a	chr4:78742177-78742188 chr4:78742177-78742188 chr4:78742443-78742456 chr4:78742443-78742454
37	CEBPB	chr4:78742065-78742551	HepG2	liver:	n/a	chr4:78742177-78742188 chr4:78742177-78742188 chr4:78742443-78742456 chr4:78742443-78742454
38	CEBPB	chr4:78741385-78742633	Hela-S3	cervix:	n/a	chr4:78742177-78742188 chr4:78742177-78742188 chr4:78742443-78742456 chr4:78742443-78742454
39	CEBPB	chr4:78742058-78742422	A549	lung:	n/a	chr4:78742177-78742188 chr4:78742177-78742188
40	CEBPD	chr4:78741125-78741778	HepG2	liver:	n/a	n/a
41	CEBPD	chr4:78740980-78741824	K562	blood:	n/a	n/a
42	CHD1	chr4:78738659-78742661	IMR90	lung:	n/a	chr4:78741736-78741746 chr4:78740328-78740338
43	CHD1	chr4:78740298-78740471	H1-hESC	embryonic stem cell:	n/a	chr4:78740328-78740338
44	CHD1	chr4:78739272-78739971	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr4:78741053-78741365	GM12878	blood:	n/a	n/a
46	CHD1	chr4:78739304-78740677	GM12878	blood:	n/a	chr4:78740328-78740338
47	CHD2	chr4:78741143-78741593	HepG2	liver:	n/a	n/a
48	CHD2	chr4:78739781-78739936	HepG2	liver:	n/a	n/a
49	CHD2	chr4:78740375-78740503	K562	blood:	n/a	n/a
50	CHD2	chr4:78740077-78740138	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:78740080-78740130	HCPEpiC	choroid plexus:	n/a
2	chr4:78740080-78740130	HCPEpiC	choroid plexus:	n/a
3	chr4:78741143-78741193	NHDF-neo	bronchial:	n/a
4	chr4:78741625-78741675	HRPEpiC	eye:	n/a
5	chr4:78740080-78740130	HNPCEpiC	eye:	n/a
6	chr4:78740080-78740130	NT2-D1	testis:	n/a
7	chr4:78741143-78741193	BE2_C	brain:	n/a
8	chr4:78741143-78741193	PFSK-1	brain:	n/a
9	chr4:78740080-78740130	SKMC	muscle:	n/a
10	chr4:78740310-78740360	BE2_C	brain:	n/a
11	chr4:78740080-78740130	Hepatocyte	liver:	n/a
12	chr4:78741625-78741675	HCT-116	colon:	n/a
13	chr4:78741951-78742001	HAEpiC	amniotic membrane:	n/a
14	chr4:78740080-78740130	HRCEpiC	kidney:	n/a
15	chr4:78740310-78740360	GM06990	blood:	n/a
16	chr4:78741625-78741675	HCPEpiC	choroid plexus:	n/a
17	chr4:78741143-78741193	MCF-7	breast:	n/a
18	chr4:78741143-78741193	HCF	heart:	n/a
19	chr4:78741625-78741675	NB4	blood:	n/a
20	chr4:78741143-78741193	HL-60	blood:	n/a
21	chr4:78741951-78742001	AG10803	skin:	n/a
22	chr4:78741625-78741675	Hela-S3	cervix:	n/a
23	chr4:78741208-78741258	T-47D	breast:	n/a
24	chr4:78741208-78741258	Hepatocyte	liver:	n/a
25	chr4:78740310-78740360	GM12878	blood:	n/a
26	chr4:78740080-78740130	BE2_C	brain:	n/a
27	chr4:78740310-78740360	NHDF-neo	bronchial:	n/a
28	chr4:78741143-78741193	SK-N-SH	brain:	n/a
29	chr4:78741951-78742001	ProgFib	skin:	n/a
30	chr4:78741625-78741675	SK-N-SH_RA	brain:	n/a
31	chr4:78740310-78740360	HRPEpiC	eye:	n/a
32	chr4:78740080-78740130	PANC-1	pancreas:	n/a
33	chr4:78740080-78740130	HUVEC	blood vessel:	n/a
34	chr4:78741208-78741258	PFSK-1	brain:	n/a
35	chr4:78741951-78742001	RPTEC	kidney:	n/a
36	chr4:78741951-78742001	GM12892	blood:	n/a
37	chr4:78741951-78742001	HL-60	blood:	n/a
38	chr4:78740310-78740360	U87	brain:	n/a
39	chr4:78740080-78740130	NHBE	bronchial:	n/a
40	chr4:78741208-78741258	IMR90	lung:	fetal
41	chr4:78740310-78740360	HCF	heart:	n/a
42	chr4:78741625-78741675	AG04450	lung:	fetal
43	chr4:78740310-78740360	HNPCEpiC	eye:	n/a
44	chr4:78741951-78742001	MCF10A-Er-Src	breast:	n/a
45	chr4:78741143-78741193	ECC-1	luminal epithelium:	n/a
46	chr4:78740310-78740360	ProgFib	skin:	n/a
47	chr4:78741625-78741675	U87	brain:	n/a
48	chr4:78741625-78741675	ProgFib	skin:	n/a
49	chr4:78740310-78740360	Caco-2	colon:	n/a
50	chr4:78740080-78740130	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr4:78739575..78741919-chr4:78878334..78880056,2	MCF-7	breast:
2	chr4:78740326..78742288-chr4:79472480..79474297,2	MCF-7	breast:
3	chr4:78739289..78742998-chr4:78782109..78787360,12	MCF-7	breast:
4	chr4:78739409..78741307-chr4:83294294..83296166,2	MCF-7	breast:
5	chr4:78691071..78693777-chr4:78741289..78743098,2	K562	blood:
6	chr4:78714906..78717368-chr4:78741847..78743752,2	K562	blood:
7	chr11:100998097..100998597-chr4:78741144..78741880,2	Hela-S3	cervix:
8	chr4:78740903..78742923-chr4:78749495..78752276,3	MCF-7	breast:
9	chr4:78664695..78666373-chr4:78741463..78744231,2	K562	blood:
10	chr4:78734703..78743448-chr4:78779372..78785561,20	K562	blood:
11	chr4:78738995..78744410-chr4:78782336..78785612,12	K562	blood:
12	chr4:78738764..78744926-chr4:78780904..78785516,9	MCF-7	breast:
13	chr1:149857754..149858603-chr4:78741325..78742039,2	Hela-S3	cervix:
14	chr4:78739575..78742806-chr4:78977392..78979889,3	MCF-7	breast:
15	chr4:78741277..78744126-chr4:78747638..78749332,2	MCF-7	breast:

Variant related genes	Relation type
CNOT6L	TF binding region
CNOT6L	CpG island
ENSG00000138772	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000138668	chromatin interactions
ENSG00000248926	chromatin interactions
ENSG00000169288	chromatin interactions
ENSG00000250214	chromatin interactions
ENSG00000272677	chromatin interactions
ENSG00000138759	chromatin interactions
ENSG00000184260	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190337289	chr4:78739483-78739484	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs62302716	chr4:78739536-78739537	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs200442797	chr4:78739541-78739542	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs533141537	chr4:78739633-78739634	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs566325082	chr4:78739652-78739653	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs182581079	chr4:78739669-78739670	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs538760961	chr4:78739685-78739686	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs535741578	chr4:78739698-78739699	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs185757848	chr4:78739703-78739704	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs191059277	chr4:78739731-78739732	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs565658576	chr4:78739738-78739739	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs116543689	chr4:78739778-78739779	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs543926539	chr4:78739798-78739799	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs557410318	chr4:78739831-78739832	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs577340379	chr4:78739844-78739845	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs537212903	chr4:78739848-78739849	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs6829203	chr4:78739891-78739892	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs574206256	chr4:78739915-78739916	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs142405311	chr4:78739942-78739943	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs559836669	chr4:78739961-78739962	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs573259151	chr4:78739985-78739986	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs545450002	chr4:78740024-78740025	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs6811439	chr4:78740066-78740067	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs368945536	chr4:78740080-78740081	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs549963628	chr4:78740105-78740106	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs6828302	chr4:78740132-78740133	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs77103397	chr4:78740160-78740161	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs144725638	chr4:78740169-78740170	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs386676376	chr4:78740170-78740171	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs565860028	chr4:78740200-78740201	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs371841161	chr4:78740203-78740204	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs373313499	chr4:78740204-78740205	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs368900394	chr4:78740228-78740229	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs71214371	chr4:78740229-78740230	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs367722470	chr4:78740245-78740246	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs550976206	chr4:78740246-78740247	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs570967867	chr4:78740314-78740315	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs536752989	chr4:78740350-78740351	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs556827038	chr4:78740354-78740355	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs574167915	chr4:78740368-78740369	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs368783905	chr4:78740380-78740381	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs372837916	chr4:78740391-78740392	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs536480981	chr4:78740395-78740396	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs377011334	chr4:78740418-78740419	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs553611249	chr4:78740420-78740421	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs573604957	chr4:78740426-78740427	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs545388263	chr4:78740436-78740437	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs369622547	chr4:78740474-78740475	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs200614151	chr4:78740484-78740485	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs376150620	chr4:78740505-78740506	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78737000-78742400	Active TSS	Thymus	Thymus
2	chr4:78738600-78739600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr4:78738600-78739600	Flanking Active TSS	HUVEC	blood vessel
4	chr4:78738600-78739800	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr4:78738600-78742000	Active TSS	Primary T cells fromperipheralblood	blood
6	chr4:78738600-78742000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:78738600-78742200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:78738600-78742200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:78738600-78742200	Active TSS	Fetal Intestine Small	intestine
10	chr4:78738600-78742200	Active TSS	Psoas Muscle	Psoas
11	chr4:78738600-78742200	Active TSS	NHLF	lung
12	chr4:78738600-78742600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr4:78738600-78742600	Active TSS	Right Atrium	heart
14	chr4:78738800-78739600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr4:78738800-78739800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr4:78738800-78739800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:78738800-78742200	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr4:78738800-78742200	Active TSS	Small Intestine	intestine
19	chr4:78738800-78742400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:78738800-78742400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:78738800-78742400	Active TSS	Fetal Intestine Large	intestine
22	chr4:78738800-78742400	Active TSS	Fetal Muscle Trunk	muscle
23	chr4:78738800-78742400	Active TSS	Left Ventricle	heart
24	chr4:78738800-78742400	Active TSS	Pancreas	Pancrea
25	chr4:78738800-78742400	Active TSS	Right Ventricle	heart
26	chr4:78738800-78742800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:78739000-78741800	Active TSS	HMEC	breast
28	chr4:78739000-78742000	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr4:78739000-78742000	Active TSS	Fetal Thymus	thymus
30	chr4:78739000-78742000	Active TSS	Ovary	ovary
31	chr4:78739000-78742000	Active TSS	HSMM	muscle
32	chr4:78739000-78742200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:78739000-78742200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr4:78739000-78742400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:78739000-78742600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:78739000-78742600	Active TSS	Esophagus	oesophagus
37	chr4:78739000-78742800	Active TSS	Aorta	Aorta
38	chr4:78739200-78739800	Bivalent/Poised TSS	HepG2	liver
39	chr4:78739200-78740200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr4:78739200-78740400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:78739200-78740600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:78739200-78741600	Active TSS	HSMMtube	muscle
43	chr4:78739200-78741800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:78739200-78741800	Active TSS	Fetal Muscle Leg	muscle
45	chr4:78739200-78741800	Active TSS	Gastric	stomach
46	chr4:78739200-78741800	Active TSS	Lung	lung
47	chr4:78739200-78741800	Active TSS	NHEK	skin
48	chr4:78739200-78742000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:78739200-78742000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:78739200-78742000	Active TSS	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links