Variant report

Variant	esv3354758
Chromosome Location	chr1:151583553-151586301
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	chr1:151583740-151584707	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:151583773-151584484	K562	blood:	n/a	n/a
3	ATF1	chr1:151583751-151584561	K562	blood:	n/a	n/a
4	ATF2	chr1:151584155-151584715	GM12878	blood:	n/a	n/a
5	ATF3	chr1:151584253-151584545	K562	blood:	n/a	chr1:151584437-151584446 chr1:151584504-151584513
6	BCLAF1	chr1:151584166-151584676	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:151583784-151585025	K562	blood:	n/a	n/a
8	BHLHE40	chr1:151583721-151584734	HepG2	liver:	n/a	n/a
9	BHLHE40	chr1:151584206-151584929	GM12878	blood:	n/a	n/a
10	BRCA1	chr1:151583812-151584589	Hela-S3	cervix:	n/a	n/a
11	CCNT2	chr1:151584321-151585168	K562	blood:	n/a	chr1:151584437-151584446 chr1:151585108-151585117
12	CEBPB	chr1:151583792-151584426	IMR90	lung:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
13	CEBPB	chr1:151583807-151584151	K562	blood:	n/a	chr1:151583999-151584010 chr1:151583997-151584008 chr1:151583999-151584008
14	CEBPB	chr1:151583779-151584236	HepG2	liver:	n/a	chr1:151583999-151584010 chr1:151583997-151584008 chr1:151583999-151584008
15	CEBPB	chr1:151583668-151584439	A549	lung:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
16	CEBPB	chr1:151583721-151584422	HepG2	liver:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
17	CEBPB	chr1:151583776-151584204	A549	lung:	n/a	chr1:151583999-151584010 chr1:151583997-151584008 chr1:151583999-151584008
18	CEBPB	chr1:151583762-151584247	ECC-1	luminal epithelium:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
19	CEBPB	chr1:151583583-151584431	MCF-7	breast:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
20	CEBPB	chr1:151583809-151584251	ECC-1	luminal epithelium:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
21	CEBPB	chr1:151583744-151584191	A549	lung:	n/a	chr1:151583999-151584010 chr1:151583997-151584008 chr1:151583999-151584008
22	CEBPB	chr1:151583688-151584485	Hela-S3	cervix:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
23	CEBPB	chr1:151583785-151584201	K562	blood:	n/a	chr1:151583999-151584010 chr1:151583997-151584008 chr1:151583999-151584008
24	CEBPB	chr1:151583632-151584821	MCF-7	breast:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
25	CEBPB	chr1:151583827-151584469	H1-hESC	embryonic stem cell:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
26	CEBPB	chr1:151583763-151584200	HepG2	liver:	n/a	chr1:151583999-151584010 chr1:151583997-151584008 chr1:151583999-151584008
27	CEBPB	chr1:151583720-151584418	K562	blood:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
28	CEBPB	chr1:151583875-151584104	HepG2	liver:	n/a	chr1:151583999-151584010 chr1:151583997-151584008 chr1:151583999-151584008
29	CEBPD	chr1:151584488-151584748	HepG2	liver:	n/a	n/a
30	CEBPD	chr1:151583841-151584139	HepG2	liver:	n/a	chr1:151583998-151584009
31	CHD1	chr1:151584538-151584803	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr1:151584273-151584610	H1-hESC	embryonic stem cell:	n/a	chr1:151584435-151584445
33	CHD2	chr1:151584272-151584690	K562	blood:	n/a	chr1:151584435-151584445
34	CHD2	chr1:151585226-151585335	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr1:151583840-151584980	Hela-S3	cervix:	n/a	chr1:151584435-151584445
36	CHD2	chr1:151584272-151584742	HepG2	liver:	n/a	chr1:151584435-151584445
37	CHD2	chr1:151584200-151584871	GM12878	blood:	n/a	chr1:151584435-151584445
38	CREB1	chr1:151584242-151584574	ECC-1	luminal epithelium:	n/a	n/a
39	CREB1	chr1:151584249-151584547	A549	lung:	n/a	n/a
40	CREB1	chr1:151584242-151584950	A549	lung:	n/a	n/a
41	CREB1	chr1:151583701-151585060	HepG2	liver:	n/a	n/a
42	CREB1	chr1:151584078-151584813	GM12878	blood:	n/a	n/a
43	CREB1	chr1:151584110-151584758	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr1:151584120-151584829	K562	blood:	n/a	n/a
45	CREB1	chr1:151583729-151584860	HepG2	liver:	n/a	n/a
46	CREB1	chr1:151584082-151584763	K562	blood:	n/a	n/a
47	CREB1	chr1:151584249-151585046	GM12878	blood:	n/a	n/a
48	CREB1	chr1:151584165-151584877	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr1:151584318-151584457	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr1:151585200-151585350	AG09319	gingival:	n/a	chr1:151585235-151585248

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151584659-151584709	SK-N-SH	brain:	n/a
2	chr1:151584659-151584709	SK-N-SH	brain:	n/a
3	chr1:151584686-151584736	ProgFib	skin:	n/a
4	chr1:151584446-151584496	HRE	kidney:	n/a
5	chr1:151585705-151585755	HNPCEpiC	eye:	n/a
6	chr1:151586058-151586108	H1-hESC	embryonic stem cell:	embryo
7	chr1:151585362-151585412	HEK293	kidney:	embryo
8	chr1:151584659-151584709	SK-N-MC	brain:	n/a
9	chr1:151585010-151585060	GM12878	blood:	n/a
10	chr1:151584659-151584709	HCPEpiC	choroid plexus:	n/a
11	chr1:151584391-151584441	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:151584651-151584701	HAEpiC	amniotic membrane:	n/a
13	chr1:151584651-151584701	LNCaP	prostate:	n/a
14	chr1:151584923-151584973	NT2-D1	testis:	n/a
15	chr1:151584651-151584701	BJ	skin:	n/a
16	chr1:151584391-151584441	HCF	heart:	n/a
17	chr1:151584651-151584701	AG10803	skin:	n/a
18	chr1:151586058-151586108	NHBE	bronchial:	n/a
19	chr1:151584902-151584952	HAEpiC	amniotic membrane:	n/a
20	chr1:151584923-151584973	AG04449	skin:	fetal
21	chr1:151584651-151584701	NHBE	bronchial:	n/a
22	chr1:151584651-151584701	SKMC	muscle:	n/a
23	chr1:151585705-151585755	HEEpiC	esophagus:	n/a
24	chr1:151584923-151584973	HRE	kidney:	n/a
25	chr1:151586058-151586108	AG09319	gingival:	n/a
26	chr1:151584078-151584128	HCM	heart:	n/a
27	chr1:151584398-151584448	HNPCEpiC	eye:	n/a
28	chr1:151584651-151584701	AG09309	skin:	n/a
29	chr1:151586058-151586108	HEEpiC	esophagus:	n/a
30	chr1:151584686-151584736	AG09309	skin:	n/a
31	chr1:151584375-151584425	GM12878	blood:	n/a
32	chr1:151584398-151584448	T-47D	breast:	n/a
33	chr1:151584659-151584709	NHBE	bronchial:	n/a
34	chr1:151586058-151586108	NH-A	brain:	n/a
35	chr1:151584923-151584973	GM12878	blood:	n/a
36	chr1:151584907-151584957	HAEpiC	amniotic membrane:	n/a
37	chr1:151584743-151584793	T-47D	breast:	n/a
38	chr1:151586058-151586108	HCM	heart:	n/a
39	chr1:151584923-151584973	SKMC	muscle:	n/a
40	chr1:151584743-151584793	HCPEpiC	choroid plexus:	n/a
41	chr1:151585362-151585412	Hela-S3	cervix:	n/a
42	chr1:151584651-151584701	AG04449	skin:	fetal
43	chr1:151584398-151584448	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:151584375-151584425	T-47D	breast:	n/a
45	chr1:151585362-151585412	HEEpiC	esophagus:	n/a
46	chr1:151585010-151585060	HEK293	kidney:	embryo
47	chr1:151584659-151584709	ECC-1	luminal epithelium:	n/a
48	chr1:151584398-151584448	HCF	heart:	n/a
49	chr1:151584743-151584793	HNPCEpiC	eye:	n/a
50	chr1:151584907-151584957	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr1:151510726..151515686-chr1:151583230..151586215,6	MCF-7	breast:
2	chr1:151583782..151586135-chr6:26156499..26159013,2	MCF-7	breast:
3	chr1:151583806..151586204-chr1:151610936..151612672,2	MCF-7	breast:
4	chr1:151430961..151432798-chr1:151585667..151587321,2	MCF-7	breast:
5	chr1:114447837..114448427-chr1:151583823..151584662,2	Hela-S3	cervix:
6	chr1:151585204..151586815-chr1:151610072..151612595,2	K562	blood:
7	chr1:151585984..151590986-chr1:151591499..151594499,5	K562	blood:
8	chr1:151509848..151514263-chr1:151581077..151585541,5	MCF-7	breast:
9	chr1:151583249..151586152-chr1:151761338..151763937,3	K562	blood:
10	chr1:151580809..151584127-chr1:151586626..151590699,5	MCF-7	breast:
11	chr1:151534012..151536307-chr1:151581033..151583882,2	MCF-7	breast:
12	chr1:151582188..151584894-chr1:151679011..151681614,2	MCF-7	breast:
13	chr1:151430633..151432391-chr1:151583582..151586341,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250734	TF binding region
SNX27	TF binding region
ENSG00000250734	CpG island
SNX27	CpG island
ENSG00000182134	chromatin interactions
ENSG00000159409	chromatin interactions
ENSG00000118655	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000203288	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000143376	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144681043	chr1:151583556-151583557	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs71625126	chr1:151583560-151583561	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs566705249	chr1:151583576-151583577	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs535210365	chr1:151583592-151583593	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs148077539	chr1:151583594-151583595	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs538864306	chr1:151583595-151583596	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs377536443	chr1:151583599-151583600	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs187791561	chr1:151583607-151583608	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs141831609	chr1:151583619-151583620	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs540513027	chr1:151583622-151583623	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs147438470	chr1:151583661-151583662	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs573872044	chr1:151583665-151583666	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs377499753	chr1:151583666-151583667	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs551066727	chr1:151583675-151583676	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs369092368	chr1:151583753-151583754	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs549010446	chr1:151583768-151583769	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs542391006	chr1:151583816-151583817	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs562167878	chr1:151583861-151583862	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs139764268	chr1:151583864-151583865	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs544562677	chr1:151583885-151583886	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs143668312	chr1:151583963-151583964	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs533712323	chr1:151584039-151584040	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs374144155	chr1:151584119-151584120	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs569015001	chr1:151584127-151584128	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs536395680	chr1:151584128-151584129	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs114128730	chr1:151584145-151584146	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs555037548	chr1:151584171-151584172	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs147181324	chr1:151584237-151584238	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs368353384	chr1:151584246-151584247	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs537465131	chr1:151584247-151584248	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs551384637	chr1:151584249-151584250	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs397862188	chr1:151584256-151584257	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs571140675	chr1:151584281-151584282	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs534122216	chr1:151584283-151584284	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs554105580	chr1:151584286-151584287	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs139516101	chr1:151584299-151584300	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs376893172	chr1:151584310-151584311	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs536412696	chr1:151584326-151584327	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs555597059	chr1:151584347-151584348	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs566009164	chr1:151584355-151584356	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs117803275	chr1:151584410-151584411	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs149685821	chr1:151584415-151584416	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs377653008	chr1:151584426-151584427	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs111464428	chr1:151584451-151584452	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs73000031	chr1:151584478-151584479	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560371748	chr1:151584491-151584492	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs529460040	chr1:151584556-151584557	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs534593618	chr1:151584581-151584582	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs549525695	chr1:151584600-151584601	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs12562148	chr1:151584608-151584609	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	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
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
Breast cancer	21611746	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
Follicular lymphoma	18703704	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
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	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
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151579800-151583600	Weak transcription	Stomach Mucosa	stomach
2	chr1:151579800-151583800	Weak transcription	Pancreas	Pancrea
3	chr1:151580200-151584000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:151580800-151583600	Weak transcription	NHLF	lung
5	chr1:151581000-151583600	Weak transcription	HSMM	muscle
6	chr1:151581000-151583800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:151581000-151583800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:151581000-151583800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:151581000-151583800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:151581000-151584200	Weak transcription	Fetal Stomach	stomach
11	chr1:151581200-151583600	Weak transcription	Adipose Nuclei	Adipose
12	chr1:151581200-151583600	Weak transcription	NHEK	skin
13	chr1:151581200-151583800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:151581200-151583800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:151581200-151583800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:151581200-151583800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:151581200-151583800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:151581200-151583800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:151581200-151583800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:151581200-151583800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:151581200-151583800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:151581200-151583800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:151581200-151583800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:151581200-151583800	Weak transcription	HSMMtube	muscle
25	chr1:151581200-151583800	Weak transcription	K562	blood
26	chr1:151581200-151583800	Weak transcription	NH-A	brain
27	chr1:151581200-151584200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:151581400-151583600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:151581400-151583600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:151581400-151583600	Weak transcription	A549	lung
31	chr1:151581400-151583600	Weak transcription	HMEC	breast
32	chr1:151581400-151583600	Weak transcription	NHDF-Ad	bronchial
33	chr1:151581400-151583800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:151581400-151583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:151581400-151583800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:151581400-151583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:151581400-151583800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:151581400-151583800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:151581400-151583800	Weak transcription	HUVEC	blood vessel
40	chr1:151581400-151583800	Weak transcription	Osteobl	bone
41	chr1:151581400-151584000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:151581600-151583600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:151581600-151584200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:151582400-151584000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr1:151582600-151584000	Enhancers	Placenta	Placenta
46	chr1:151582600-151584200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:151582600-151584200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:151582800-151584200	Enhancers	Fetal Intestine Small	intestine
49	chr1:151583200-151583600	Enhancers	HepG2	liver
50	chr1:151583200-151584000	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links