Variant report

Variant	esv3344990
Chromosome Location	chr11:45920601-45923149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:329)
CpG islands
(count:367)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:45921441-45921541	K562	blood:	n/a	n/a
2	ARID3A	chr11:45921040-45921116	K562	blood:	n/a	n/a
3	ATF1	chr11:45921213-45921587	K562	blood:	n/a	n/a
4	ATF2	chr11:45920751-45921633	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:45920836-45921630	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:45921305-45921598	GM12878	blood:	n/a	n/a
7	ATF3	chr11:45921125-45921680	K562	blood:	n/a	chr11:45921401-45921414
8	ATF3	chr11:45921230-45921547	K562	blood:	n/a	chr11:45921401-45921414
9	ATF3	chr11:45921190-45921495	H1-hESC	embryonic stem cell:	n/a	chr11:45921401-45921414
10	ATF3	chr11:45921322-45921627	A549	lung:	n/a	chr11:45921401-45921414
11	ATF3	chr11:45921288-45921589	A549	lung:	n/a	chr11:45921401-45921414
12	ATF3	chr11:45921233-45921578	H1-hESC	embryonic stem cell:	n/a	chr11:45921401-45921414
13	BHLHE40	chr11:45921330-45921680	GM12878	blood:	n/a	n/a
14	BHLHE40	chr11:45921317-45921651	A549	lung:	n/a	n/a
15	BHLHE40	chr11:45921277-45921714	HepG2	liver:	n/a	n/a
16	BHLHE40	chr11:45921011-45921713	K562	blood:	n/a	n/a
17	BRCA1	chr11:45921019-45921643	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr11:45921421-45921517	HepG2	liver:	n/a	n/a
19	BRCA1	chr11:45921456-45921558	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr11:45920816-45921195	K562	blood:	n/a	n/a
21	CBX3	chr11:45921343-45921624	K562	blood:	n/a	n/a
22	CCNT2	chr11:45921094-45921773	K562	blood:	n/a	chr11:45921190-45921199 chr11:45921299-45921308
23	CEBPB	chr11:45921058-45921568	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr11:45921204-45921525	K562	blood:	n/a	n/a
25	CEBPB	chr11:45921211-45921569	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr11:45921256-45921552	K562	blood:	n/a	n/a
27	CHD1	chr11:45920829-45921818	IMR90	lung:	n/a	chr11:45921183-45921193
28	CHD1	chr11:45921225-45921707	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr11:45921353-45921698	GM12878	blood:	n/a	n/a
30	CHD2	chr11:45920898-45921565	H1-hESC	embryonic stem cell:	n/a	chr11:45921183-45921193
31	CHD2	chr11:45921055-45921661	Hela-S3	cervix:	n/a	chr11:45921183-45921193
32	CHD2	chr11:45921308-45921593	HepG2	liver:	n/a	n/a
33	CHD2	chr11:45921054-45921091	K562	blood:	n/a	n/a
34	CHD2	chr11:45921345-45921599	K562	blood:	n/a	n/a
35	CREB1	chr11:45921224-45921539	A549	lung:	n/a	n/a
36	CREB1	chr11:45921129-45921795	HepG2	liver:	n/a	n/a
37	CREB1	chr11:45920896-45921748	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr11:45920896-45921786	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr11:45921131-45921774	A549	lung:	n/a	n/a
40	CREB1	chr11:45921130-45921720	GM12878	blood:	n/a	n/a
41	CREB1	chr11:45921123-45921694	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr11:45920900-45921050	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr11:45921420-45921570	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr11:45921480-45921555	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:45921806-45921824	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:45920940-45921090	HAc	cerebellar:	n/a	n/a
47	CTCF	chr11:45920960-45921110	AG09319	gingival:	n/a	n/a
48	CTCF	chr11:45920980-45921130	SAEC	small airway:	n/a	n/a
49	CTCF	chr11:45921766-45921879	GM20000	blood:	n/a	n/a
50	CTCF	chr11:45921018-45921116	GM12878	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45921388-45921438	HCPEpiC	choroid plexus:	n/a
2	chr11:45921388-45921438	HCPEpiC	choroid plexus:	n/a
3	chr11:45922184-45922234	AG10803	skin:	n/a
4	chr11:45921134-45921184	HCM	heart:	n/a
5	chr11:45922184-45922234	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:45922166-45922216	H1-hESC	embryonic stem cell:	embryo
7	chr11:45922166-45922216	NHDF-neo	bronchial:	n/a
8	chr11:45921959-45922009	HIPEpiC	eye:	n/a
9	chr11:45922184-45922234	AG04449	skin:	fetal
10	chr11:45922184-45922234	SK-N-MC	brain:	n/a
11	chr11:45921959-45922009	T-47D	breast:	n/a
12	chr11:45922184-45922234	PANC-1	pancreas:	n/a
13	chr11:45922166-45922216	Caco-2	colon:	n/a
14	chr11:45921388-45921438	HUVEC	blood vessel:	n/a
15	chr11:45921388-45921438	HRPEpiC	eye:	n/a
16	chr11:45922184-45922234	NB4	blood:	n/a
17	chr11:45921959-45922009	AG04450	lung:	fetal
18	chr11:45921959-45922009	BE2_C	brain:	n/a
19	chr11:45922184-45922234	GM12878	blood:	n/a
20	chr11:45921134-45921184	GM12892	blood:	n/a
21	chr11:45922166-45922216	AoSMC	blood vessel:	n/a
22	chr11:45922184-45922234	HepG2	liver:	n/a
23	chr11:45922166-45922216	Hepatocyte	liver:	n/a
24	chr11:45921134-45921184	SKMC	muscle:	n/a
25	chr11:45921959-45922009	PANC-1	pancreas:	n/a
26	chr11:45922184-45922234	A549	lung:	n/a
27	chr11:45921557-45921607	AG04450	lung:	fetal
28	chr11:45921557-45921607	LNCaP	prostate:	n/a
29	chr11:45921557-45921607	HCPEpiC	choroid plexus:	n/a
30	chr11:45921557-45921607	HCT-116	colon:	n/a
31	chr11:45921134-45921184	AG09319	gingival:	n/a
32	chr11:45922166-45922216	HRE	kidney:	n/a
33	chr11:45921134-45921184	U87	brain:	n/a
34	chr11:45921134-45921184	SK-N-MC	brain:	n/a
35	chr11:45921959-45922009	NT2-D1	testis:	n/a
36	chr11:45921557-45921607	Jurkat	blood:	n/a
37	chr11:45921388-45921438	Hepatocyte	liver:	n/a
38	chr11:45921959-45922009	Caco-2	colon:	n/a
39	chr11:45922184-45922234	Caco-2	colon:	n/a
40	chr11:45921134-45921184	HepG2	liver:	n/a
41	chr11:45922166-45922216	MCF10A-Er-Src	breast:	n/a
42	chr11:45921388-45921438	AG10803	skin:	n/a
43	chr11:45921134-45921184	BE2_C	brain:	n/a
44	chr11:45921134-45921184	Hela-S3	cervix:	n/a
45	chr11:45921557-45921607	HAEpiC	amniotic membrane:	n/a
46	chr11:45921959-45922009	HL-60	blood:	n/a
47	chr11:45922184-45922234	ECC-1	luminal epithelium:	n/a
48	chr11:45921959-45922009	HEK293	kidney:	embryo
49	chr11:45922166-45922216	AG09309	skin:	n/a
50	chr11:45922184-45922234	HCM	heart:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45904574..45907083-chr11:45920026..45922634,2	MCF-7	breast:
2	chr11:45921817..45923409-chr11:45925394..45927956,2	K562	blood:
3	chr11:45911458..45913124-chr11:45919086..45920633,2	MCF-7	breast:
4	chr1:198127987..198130106-chr11:45920994..45922551,2	MCF-7	breast:
5	chr11:45868921..45870450-chr11:45919310..45922192,2	K562	blood:
6	chr11:45898608..45900937-chr11:45921279..45922958,2	MCF-7	breast:
7	chr11:45897449..45899197-chr11:45919922..45922462,2	K562	blood:
8	chr11:45918756..45920830-chr11:46147616..46150404,2	K562	blood:
9	chr11:45919268..45921220-chr11:46000248..46001826,2	MCF-7	breast:
10	chr11:45897697..45900039-chr11:45919922..45922515,2	K562	blood:
11	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:
12	chr11:45920062..45922983-chr11:45935210..45941830,10	K562	blood:
13	chr11:45911137..45915484-chr11:45918170..45921125,3	MCF-7	breast:

No data

Variant related genes	Relation type
MAPK8IP1	TF binding region
MAPK8IP1	CpG island
ENSG00000121671	chromatin interactions
ENSG00000121680	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536058883	chr11:45920653-45920654	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs553010602	chr11:45920674-45920675	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs188306592	chr11:45920682-45920683	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs376167843	chr11:45920687-45920688	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs139965941	chr11:45920720-45920721	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs578206054	chr11:45920782-45920783	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs573939176	chr11:45920790-45920791	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs114264185	chr11:45920803-45920804	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs568670323	chr11:45920859-45920860	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs539017775	chr11:45920899-45920900	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs35226020	chr11:45920907-45920908	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs544860441	chr11:45920929-45920930	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs561581388	chr11:45920937-45920938	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs149354203	chr11:45920973-45920974	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs180709401	chr11:45920998-45920999	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs560711158	chr11:45921024-45921025	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs528183168	chr11:45921040-45921041	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs545005907	chr11:45921064-45921065	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs186496734	chr11:45921083-45921084	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs564878577	chr11:45921097-45921098	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs530446715	chr11:45921128-45921129	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs550427710	chr11:45921171-45921172	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs567234275	chr11:45921179-45921180	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs190922336	chr11:45921207-45921208	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs554233883	chr11:45921216-45921217	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs374357746	chr11:45921221-45921222	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs182299207	chr11:45921319-45921320	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs558804843	chr11:45921385-45921386	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs369142463	chr11:45921450-45921451	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs575558737	chr11:45921499-45921500	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs537859134	chr11:45921500-45921501	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs555252930	chr11:45921520-45921521	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs575204460	chr11:45921528-45921529	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs540971489	chr11:45921536-45921537	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs554393682	chr11:45921556-45921557	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs577395900	chr11:45921558-45921559	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs34271745	chr11:45921585-45921586	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs545062464	chr11:45921611-45921612	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs564846038	chr11:45921618-45921619	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs530486701	chr11:45921636-45921637	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs543809483	chr11:45921698-45921699	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs560597368	chr11:45921711-45921712	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs529921936	chr11:45921754-45921755	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs546517121	chr11:45921788-45921789	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs566630151	chr11:45921846-45921847	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs111247030	chr11:45921934-45921935	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs2863713	chr11:45921995-45921996	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs2902546	chr11:45921996-45921997	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs373338343	chr11:45922019-45922020	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs144662180	chr11:45922188-45922189	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45907600-45920800	Weak transcription	Right Atrium	heart
2	chr11:45917600-45920800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
3	chr11:45917800-45921000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:45918200-45920800	Enhancers	Brain Angular Gyrus	brain
5	chr11:45918200-45921000	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr11:45918400-45920800	Weak transcription	Liver	Liver
7	chr11:45918600-45921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:45919000-45920800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr11:45919200-45920800	Weak transcription	Esophagus	oesophagus
10	chr11:45919400-45920800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:45919400-45920800	Weak transcription	Ovary	ovary
12	chr11:45919400-45920800	Enhancers	Hela-S3	cervix
13	chr11:45919400-45921000	Enhancers	Pancreas	Pancrea
14	chr11:45919400-45921000	Enhancers	Spleen	Spleen
15	chr11:45919600-45921000	Enhancers	Right Ventricle	heart
16	chr11:45919800-45920800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:45920200-45920800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:45920200-45921000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:45920200-45921000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:45920200-45921000	Enhancers	Brain Substantia Nigra	brain
21	chr11:45920200-45921000	Enhancers	Placenta	Placenta
22	chr11:45920200-45921000	Enhancers	Gastric	stomach
23	chr11:45920200-45921000	Enhancers	Left Ventricle	heart
24	chr11:45920200-45921200	Enhancers	Fetal Brain Male	brain
25	chr11:45920400-45920800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:45920400-45920800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:45920400-45920800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:45920400-45920800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr11:45920400-45920800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
30	chr11:45920400-45920800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:45920400-45920800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
32	chr11:45920400-45920800	Enhancers	A549	lung
33	chr11:45920400-45921000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:45920400-45921000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:45920400-45921000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr11:45920400-45921000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
37	chr11:45920400-45921000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr11:45920400-45921000	Bivalent Enhancer	Fetal Stomach	stomach
39	chr11:45920400-45921000	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr11:45920400-45921000	Enhancers	K562	blood
41	chr11:45920400-45921200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:45920600-45920800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:45920600-45920800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:45920600-45920800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr11:45920600-45920800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:45920600-45920800	Bivalent Enhancer	Primary B cells from cord blood	blood
47	chr11:45920600-45920800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr11:45920600-45920800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
49	chr11:45920600-45920800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:45920600-45920800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links