Variant report

Variant	esv3341336
Chromosome Location	chr1:46268590-46271138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:507)
CpG islands
(count:427)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:46268405-46269160	K562	blood:	n/a	n/a
2	ARID3A	chr1:46268499-46269278	HepG2	liver:	n/a	n/a
3	ATF1	chr1:46268403-46269065	K562	blood:	n/a	n/a
4	ATF2	chr1:46268444-46268793	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:46268428-46268979	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:46268462-46268881	GM12878	blood:	n/a	n/a
7	ATF2	chr1:46268393-46268945	GM12878	blood:	n/a	n/a
8	ATF3	chr1:46268962-46269408	K562	blood:	n/a	n/a
9	ATF3	chr1:46268279-46268864	K562	blood:	n/a	n/a
10	BACH1	chr1:46269744-46269925	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:46269216-46269229	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr1:46268407-46268721	GM12878	blood:	n/a	chr1:46268569-46268579 chr1:46268635-46268648 chr1:46268568-46268579
13	BHLHE40	chr1:46268856-46269477	GM12878	blood:	n/a	chr1:46269294-46269310 chr1:46269102-46269118
14	BHLHE40	chr1:46268379-46269420	K562	blood:	n/a	chr1:46269294-46269310 chr1:46269102-46269118
15	BRCA1	chr1:46268310-46268988	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr1:46269828-46270104	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr1:46267924-46269472	K562	blood:	n/a	n/a
18	CCNT2	chr1:46269729-46270061	K562	blood:	n/a	chr1:46269835-46269844 chr1:46269791-46269800
19	CCNT2	chr1:46268476-46269493	K562	blood:	n/a	n/a
20	CEBPB	chr1:46270004-46270283	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr1:46270083-46270506	A549	lung:	n/a	n/a
22	CEBPB	chr1:46269906-46270574	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr1:46270070-46270437	K562	blood:	n/a	n/a
24	CEBPB	chr1:46270081-46270437	A549	lung:	n/a	n/a
25	CEBPB	chr1:46268295-46268807	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:46270172-46270354	K562	blood:	n/a	n/a
27	CEBPB	chr1:46270132-46270495	K562	blood:	n/a	n/a
28	CEBPB	chr1:46270065-46270506	HepG2	liver:	n/a	n/a
29	CEBPB	chr1:46269038-46269369	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:46269932-46270436	IMR90	lung:	n/a	n/a
31	CEBPD	chr1:46269124-46269441	HepG2	liver:	n/a	n/a
32	CHD1	chr1:46269914-46270114	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr1:46269713-46269971	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr1:46268362-46269179	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr1:46269018-46269446	A549	lung:	n/a	n/a
36	CTCF	chr1:46269680-46269830	HVMF	connective:	n/a	n/a
37	CTCF	chr1:46268500-46268650	AG09319	gingival:	n/a	n/a
38	CTCF	chr1:46269900-46270050	AG04450	lung:	n/a	n/a
39	CTCF	chr1:46268892-46269063	K562	blood:	n/a	n/a
40	CTCF	chr1:46268500-46268650	GM12873	blood:	n/a	n/a
41	CTCF	chr1:46268440-46268590	AG04449	skin:	n/a	n/a
42	CTCF	chr1:46268500-46268650	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr1:46268740-46268890	HRE	kidney:	n/a	n/a
44	CTCF	chr1:46269018-46269038	Lung_OC	lung:	n/a	n/a
45	CTCF	chr1:46269980-46270130	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr1:46268480-46268630	HPF	lung:	n/a	n/a
47	CTCF	chr1:46269162-46269317	Spleen_OC	spleen:	n/a	chr1:46269301-46269314
48	CTCF	chr1:46268480-46268630	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr1:46269720-46269870	RPTEC	kidney:	n/a	n/a
50	CTCF	chr1:46268480-46268630	AoAF	blood vessel:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46269788-46269838	AG09319	gingival:	n/a
2	chr1:46269397-46269447	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:46268979-46269029	GM12892	blood:	n/a
4	chr1:46269305-46269355	HUVEC	blood vessel:	n/a
5	chr1:46269305-46269355	HL-60	blood:	n/a
6	chr1:46269120-46269170	HepG2	liver:	n/a
7	chr1:46269120-46269170	NH-A	brain:	n/a
8	chr1:46269324-46269374	SK-N-SH_RA	brain:	n/a
9	chr1:46269788-46269838	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:46269397-46269447	HCT-116	colon:	n/a
11	chr1:46269305-46269355	HepG2	liver:	n/a
12	chr1:46269120-46269170	HCPEpiC	choroid plexus:	n/a
13	chr1:46269394-46269444	HCM	heart:	n/a
14	chr1:46269397-46269447	MCF10A-Er-Src	breast:	n/a
15	chr1:46269305-46269355	LNCaP	prostate:	n/a
16	chr1:46269394-46269444	LNCaP	prostate:	n/a
17	chr1:46269788-46269838	HRE	kidney:	n/a
18	chr1:46269120-46269170	IMR90	lung:	fetal
19	chr1:46269397-46269447	K562	blood:	n/a
20	chr1:46269788-46269838	HEEpiC	esophagus:	n/a
21	chr1:46269397-46269447	IMR90	lung:	fetal
22	chr1:46269305-46269355	NB4	blood:	n/a
23	chr1:46269324-46269374	HAEpiC	amniotic membrane:	n/a
24	chr1:46268979-46269029	HCT-116	colon:	n/a
25	chr1:46269120-46269170	SK-N-MC	brain:	n/a
26	chr1:46269324-46269374	PrEC	prostate:	n/a
27	chr1:46268979-46269029	LNCaP	prostate:	n/a
28	chr1:46269788-46269838	GM06990	blood:	n/a
29	chr1:46269788-46269838	HRCEpiC	kidney:	n/a
30	chr1:46269788-46269838	HEK293	kidney:	embryo
31	chr1:46268979-46269029	NHDF-neo	bronchial:	n/a
32	chr1:46269788-46269838	BE2_C	brain:	n/a
33	chr1:46269120-46269170	NB4	blood:	n/a
34	chr1:46269120-46269170	HCM	heart:	n/a
35	chr1:46269324-46269374	NH-A	brain:	n/a
36	chr1:46269305-46269355	HAEpiC	amniotic membrane:	n/a
37	chr1:46268979-46269029	HAEpiC	amniotic membrane:	n/a
38	chr1:46269788-46269838	RPTEC	kidney:	n/a
39	chr1:46269394-46269444	BJ	skin:	n/a
40	chr1:46269788-46269838	PFSK-1	brain:	n/a
41	chr1:46269324-46269374	AG09309	skin:	n/a
42	chr1:46269394-46269444	GM12892	blood:	n/a
43	chr1:46269324-46269374	GM19239	blood:	n/a
44	chr1:46269394-46269444	GM12878	blood:	n/a
45	chr1:46268979-46269029	HCF	heart:	n/a
46	chr1:46269324-46269374	GM12878	blood:	n/a
47	chr1:46269394-46269444	HMEC	breast:	n/a
48	chr1:46269394-46269444	H1-hESC	embryonic stem cell:	embryo
49	chr1:46269120-46269170	ovcar-3	ovarian:	n/a
50	chr1:46269394-46269444	HRPEpiC	eye:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46049133..46051352-chr1:46267497..46269310,2	MCF-7	breast:
2	chr1:46150526..46156032-chr1:46265067..46272923,24	K562	blood:
3	chr1:46268308..46270413-chr7:26238840..26240934,2	MCF-7	breast:
4	chr1:46213556..46220443-chr1:46266629..46271737,8	K562	blood:
5	chr1:46216117..46217904-chr1:46267595..46269245,2	MCF-7	breast:
6	chr1:46049190..46051065-chr1:46268579..46270111,2	K562	blood:
7	chr1:46270044..46272656-chr1:46278992..46281641,2	K562	blood:
8	chr1:46215876..46219394-chr1:46266629..46270801,6	K562	blood:
9	chr1:46269300..46271660-chr1:46713127..46714994,2	K562	blood:
10	chr1:46151080..46154672-chr1:46265067..46271759,20	K562	blood:
11	chr1:46150825..46154977-chr1:46267620..46271634,6	MCF-7	breast:
12	chr1:46270679..46272758-chr1:46394759..46396446,2	K562	blood:
13	chr1:46269099..46269845-chr11:10829742..10830680,2	Hela-S3	cervix:
14	chr1:46149604..46155141-chr1:46267151..46271003,9	MCF-7	breast:

No data

Variant related genes	Relation type
MAST2	TF binding region
MAST2	CpG island
ENSG00000122565	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000197429	chromatin interactions
ENSG00000132780	chromatin interactions
ENSG00000085999	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000110321	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138989341	chr1:46268612-46268613	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs547907063	chr1:46268641-46268642	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs76571973	chr1:46268693-46268694	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs79640125	chr1:46268700-46268701	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs149881040	chr1:46268712-46268713	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs551740576	chr1:46268734-46268735	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs570374536	chr1:46268735-46268736	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs537807642	chr1:46268744-46268745	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs117439224	chr1:46268759-46268760	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs549779893	chr1:46268776-46268777	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs568095170	chr1:46268814-46268815	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs535535491	chr1:46268831-46268832	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs553878504	chr1:46268861-46268862	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs572096928	chr1:46268884-46268885	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs539627128	chr1:46268886-46268887	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs137888816	chr1:46269081-46269082	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs11211191	chr1:46269132-46269133	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372503478	chr1:46269143-46269144	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs543342197	chr1:46269145-46269146	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs371513995	chr1:46269222-46269223	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs573740933	chr1:46269254-46269255	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs541164610	chr1:46269276-46269277	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs559800840	chr1:46269283-46269284	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs533324732	chr1:46269302-46269303	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs552873077	chr1:46269320-46269321	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs12081398	chr1:46269352-46269353	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs531213996	chr1:46269430-46269431	Active TSS Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs374873750	chr1:46269626-46269627	Active TSS Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs540929195	chr1:46269680-46269681	Active TSS Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs56303620	chr1:46269711-46269712	Active TSS Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs112226281	chr1:46269729-46269730	Active TSS Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs535432470	chr1:46269817-46269818	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs113721451	chr1:46269859-46269860	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs376025405	chr1:46269883-46269884	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs565782029	chr1:46269934-46269935	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs539227945	chr1:46269943-46269944	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs557915639	chr1:46269952-46269953	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs77028111	chr1:46270051-46270052	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs569547839	chr1:46270073-46270074	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs4434876	chr1:46270129-46270130	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs577607098	chr1:46270159-46270160	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs555292715	chr1:46270208-46270209	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs546460166	chr1:46270244-46270245	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs184605259	chr1:46270283-46270284	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs372855362	chr1:46270333-46270334	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs189508790	chr1:46270402-46270403	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs76912510	chr1:46270432-46270433	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs563057480	chr1:46270451-46270452	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs559556465	chr1:46270588-46270589	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs181453295	chr1:46270646-46270647	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
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
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
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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46264000-46268600	Weak transcription	Thymus	Thymus
2	chr1:46267600-46268600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:46267600-46268600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:46267600-46268800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:46267800-46268600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:46267800-46268600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:46267800-46268600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:46267800-46268600	Enhancers	Fetal Muscle Leg	muscle
9	chr1:46267800-46268600	Enhancers	Placenta	Placenta
10	chr1:46267800-46268600	Enhancers	Fetal Stomach	stomach
11	chr1:46267800-46268600	Enhancers	Psoas Muscle	Psoas
12	chr1:46267800-46268600	Enhancers	HMEC	breast
13	chr1:46267800-46268600	Enhancers	HSMM	muscle
14	chr1:46267800-46268600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:46267800-46269000	Enhancers	Fetal Heart	heart
16	chr1:46268000-46268600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:46268000-46268600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:46268000-46268600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:46268000-46268600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:46268000-46268600	Enhancers	Adipose Nuclei	Adipose
21	chr1:46268000-46268600	Enhancers	Aorta	Aorta
22	chr1:46268000-46268600	Enhancers	Fetal Muscle Trunk	muscle
23	chr1:46268000-46268600	Enhancers	Ovary	ovary
24	chr1:46268000-46268600	Enhancers	Right Ventricle	heart
25	chr1:46268000-46268600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:46268000-46268600	Enhancers	HUVEC	blood vessel
27	chr1:46268000-46268800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:46268000-46268800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:46268000-46268800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:46268000-46268800	Enhancers	Esophagus	oesophagus
31	chr1:46268000-46268800	Enhancers	Lung	lung
32	chr1:46268000-46268800	Flanking Active TSS	A549	lung
33	chr1:46268000-46269000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr1:46268000-46269000	Flanking Active TSS	HSMMtube	muscle
35	chr1:46268200-46268600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:46268200-46268600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr1:46268200-46268600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:46268200-46268600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:46268200-46268600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:46268200-46268600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr1:46268200-46268600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:46268200-46268600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:46268200-46268600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:46268200-46268600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:46268200-46268600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr1:46268200-46268600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:46268200-46268600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:46268200-46268600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:46268200-46268600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:46268200-46268600	Enhancers	Fetal Intestine Large	intestine

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