Variant report

Variant	esv3339525
Chromosome Location	chr2:36824073-36826621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:416)
CpG islands
(count:854)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:36824822-36824984	HepG2	liver:	n/a	n/a
2	ATF2	chr2:36824535-36825103	GM12878	blood:	n/a	n/a
3	ATF2	chr2:36824462-36824907	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:36824686-36825087	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:36824864-36824866	K562	blood:	n/a	n/a
6	BHLHE40	chr2:36824536-36825072	GM12878	blood:	n/a	chr2:36824929-36824945
7	BHLHE40	chr2:36825391-36825804	K562	blood:	n/a	n/a
8	BHLHE40	chr2:36825561-36825915	HepG2	liver:	n/a	n/a
9	BHLHE40	chr2:36824397-36825129	K562	blood:	n/a	chr2:36824929-36824945
10	BRCA1	chr2:36824591-36824891	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr2:36824624-36825061	K562	blood:	n/a	n/a
12	CCNT2	chr2:36824418-36825112	K562	blood:	n/a	chr2:36824972-36824981
13	CEBPD	chr2:36824654-36825002	HepG2	liver:	n/a	n/a
14	CHD1	chr2:36824527-36825074	GM12878	blood:	n/a	chr2:36824965-36824975
15	CHD1	chr2:36824930-36825046	H1-hESC	embryonic stem cell:	n/a	chr2:36824965-36824975
16	CHD2	chr2:36824581-36824614	HepG2	liver:	n/a	n/a
17	CHD2	chr2:36824647-36825089	K562	blood:	n/a	chr2:36824965-36824975
18	CHD2	chr2:36824592-36825011	H1-hESC	embryonic stem cell:	n/a	chr2:36824965-36824975
19	CHD2	chr2:36824420-36825054	GM12878	blood:	n/a	chr2:36824965-36824975
20	CHD2	chr2:36824895-36825086	HepG2	liver:	n/a	chr2:36824965-36824975
21	CHD2	chr2:36824626-36825459	Hela-S3	cervix:	n/a	chr2:36824965-36824975
22	CREB1	chr2:36824716-36825094	A549	lung:	n/a	n/a
23	CTBP2	chr2:36824480-36825102	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr2:36824940-36825090	AG04450	lung:	n/a	n/a
25	CTCF	chr2:36825000-36825150	GM12871	blood:	n/a	n/a
26	CTCF	chr2:36825000-36825150	GM12873	blood:	n/a	n/a
27	CTCF	chr2:36824980-36825130	Caco-2	colon:	n/a	n/a
28	CTCF	chr2:36826004-36826024	GM10248	blood:	n/a	n/a
29	CTCF	chr2:36824980-36825130	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr2:36824980-36825130	GM12873	blood:	n/a	n/a
31	CTCF	chr2:36824900-36825050	SAEC	small airway:	n/a	chr2:36824930-36824943
32	CTCF	chr2:36825000-36825150	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr2:36824980-36825130	GM12866	blood:	n/a	n/a
34	CTCF	chr2:36824980-36825130	HEK293	kidney:	n/a	n/a
35	CTCF	chr2:36824840-36824990	GM12875	blood:	n/a	chr2:36824878-36824891 chr2:36824930-36824943
36	CTCF	chr2:36824981-36825051	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr2:36824880-36825030	HUVEC	blood vessel:	n/a	chr2:36824930-36824943
38	CTCF	chr2:36824740-36824890	SAEC	small airway:	n/a	chr2:36824829-36824842
39	CTCF	chr2:36824960-36825110	NHEK	skin:	n/a	n/a
40	CTCF	chr2:36824980-36825130	GM12867	blood:	n/a	n/a
41	CTCF	chr2:36824945-36825062	GM12878	blood:	n/a	n/a
42	CTCF	chr2:36824940-36825090	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr2:36824960-36825110	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr2:36824920-36825070	AG04449	skin:	n/a	chr2:36824930-36824943
45	CTCF	chr2:36824180-36824330	GM12872	blood:	n/a	n/a
46	CTCF	chr2:36824820-36824970	HMEC	breast:	n/a	chr2:36824878-36824891 chr2:36824930-36824943 chr2:36824829-36824842
47	CTCF	chr2:36824920-36825070	Caco-2	colon:	n/a	chr2:36824930-36824943
48	CTCF	chr2:36824860-36825010	GM12875	blood:	n/a	chr2:36824878-36824891 chr2:36824930-36824943
49	CTCF	chr2:36824900-36825050	HCPEpiC	choroid plexus:	n/a	chr2:36824930-36824943
50	E2F4	chr2:36824736-36824919	GM12878	blood:	n/a	chr2:36824828-36824837 chr2:36824788-36824800

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:36825736-36825786	CMK	blood:	n/a
2	chr2:36825350-36825400	SK-N-SH_RA	brain:	n/a
3	chr2:36825350-36825400	SK-N-MC	brain:	n/a
4	chr2:36824259-36824309	HMEC	breast:	n/a
5	chr2:36825888-36825938	U87	brain:	n/a
6	chr2:36824275-36824325	HCF	heart:	n/a
7	chr2:36825888-36825938	HUVEC	blood vessel:	n/a
8	chr2:36825150-36825200	HCPEpiC	choroid plexus:	n/a
9	chr2:36825704-36825754	PFSK-1	brain:	n/a
10	chr2:36825204-36825254	HAEpiC	amniotic membrane:	n/a
11	chr2:36824259-36824309	A549	lung:	n/a
12	chr2:36825204-36825254	AG04450	lung:	fetal
13	chr2:36824259-36824309	PFSK-1	brain:	n/a
14	chr2:36824338-36824388	NB4	blood:	n/a
15	chr2:36825350-36825400	PFSK-1	brain:	n/a
16	chr2:36825350-36825400	NH-A	brain:	n/a
17	chr2:36825448-36825498	SAEC	small airway:	n/a
18	chr2:36825273-36825323	BJ	skin:	n/a
19	chr2:36825350-36825400	Caco-2	colon:	n/a
20	chr2:36825736-36825786	AoSMC	blood vessel:	n/a
21	chr2:36825204-36825254	RPTEC	kidney:	n/a
22	chr2:36825448-36825498	LNCaP	prostate:	n/a
23	chr2:36825736-36825786	A549	lung:	n/a
24	chr2:36824275-36824325	HepG2	liver:	n/a
25	chr2:36825273-36825323	RPTEC	kidney:	n/a
26	chr2:36825448-36825498	HNPCEpiC	eye:	n/a
27	chr2:36825273-36825323	PANC-1	pancreas:	n/a
28	chr2:36825355-36825405	AG09309	skin:	n/a
29	chr2:36825350-36825400	H1-hESC	embryonic stem cell:	embryo
30	chr2:36825704-36825754	HNPCEpiC	eye:	n/a
31	chr2:36825448-36825498	GM12891	blood:	n/a
32	chr2:36824338-36824388	T-47D	breast:	n/a
33	chr2:36825379-36825429	ovcar-3	ovarian:	n/a
34	chr2:36824663-36824713	SK-N-SH	brain:	n/a
35	chr2:36824663-36824713	GM19239	blood:	n/a
36	chr2:36824338-36824388	HRPEpiC	eye:	n/a
37	chr2:36825273-36825323	HEEpiC	esophagus:	n/a
38	chr2:36825448-36825498	SKMC	muscle:	n/a
39	chr2:36825273-36825323	SKMC	muscle:	n/a
40	chr2:36825204-36825254	HEK293	kidney:	embryo
41	chr2:36824663-36824713	ECC-1	luminal epithelium:	n/a
42	chr2:36824259-36824309	MCF10A-Er-Src	breast:	n/a
43	chr2:36824259-36824309	T-47D	breast:	n/a
44	chr2:36825150-36825200	NT2-D1	testis:	n/a
45	chr2:36825888-36825938	SK-N-MC	brain:	n/a
46	chr2:36824275-36824325	A549	lung:	n/a
47	chr2:36824338-36824388	Hepatocyte	liver:	n/a
48	chr2:36824338-36824388	AG04449	skin:	fetal
49	chr2:36824663-36824713	NHBE	bronchial:	n/a
50	chr2:36825355-36825405	RPTEC	kidney:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40659687..40660521-chr2:36824351..36825100,2	Hela-S3	cervix:
2	chr2:36823490..36825133-chr2:36832447..36835155,2	K562	blood:
3	chr2:36806495..36808233-chr2:36823601..36825272,2	K562	blood:
4	chr2:36795603..36797557-chr2:36823655..36825213,2	MCF-7	breast:
5	chr2:36810053..36812056-chr2:36823147..36825466,2	K562	blood:
6	chr2:36824822..36825365-chr3:170587432..170588313,2	HCT-116	colon:
7	chr2:36817392..36820041-chr2:36820581..36825790,5	MCF-7	breast:
8	chr2:36824869..36825813-chr7:25164272..25164970,2	Hela-S3	cervix:
9	chr2:36773274..36774998-chr2:36822690..36824944,2	MCF-7	breast:
10	chr2:36703233..36705219-chr2:36822844..36824378,2	K562	blood:
11	chr2:36825393..36826238-chr3:170587410..170588332,2	HCT-116	colon:
12	chr19:18668542..18669248-chr2:36824810..36825370,2	Hela-S3	cervix:
13	chr2:36807436..36809716-chr2:36825542..36828230,2	K562	blood:
14	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:
15	chr2:36582902..36585503-chr2:36823410..36825462,3	MCF-7	breast:

No data

Variant related genes	Relation type
FEZ2	TF binding region
FEZ2	CpG island
ENSG00000163584	chromatin interactions
ENSG00000172115	chromatin interactions
ENSG00000150938	chromatin interactions
ENSG00000256845	chromatin interactions
ENSG00000171055	chromatin interactions
ENSG00000105700	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573444745	chr2:36824080-36824081	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs540563814	chr2:36824136-36824137	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs183063195	chr2:36824164-36824165	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs577489546	chr2:36824191-36824192	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs17019171	chr2:36824204-36824205	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139881180	chr2:36824227-36824228	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs145324218	chr2:36824262-36824263	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs368450944	chr2:36824267-36824268	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs369051596	chr2:36824271-36824272	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs561034776	chr2:36824304-36824305	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs147666086	chr2:36824343-36824344	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs542700990	chr2:36824385-36824386	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs141118307	chr2:36824478-36824479	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs561478563	chr2:36824487-36824488	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs571143272	chr2:36824546-36824547	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs538412713	chr2:36824565-36824566	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs550684747	chr2:36824566-36824567	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs150266190	chr2:36824576-36824577	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs536261904	chr2:36824589-36824590	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs554991060	chr2:36824608-36824609	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs573155393	chr2:36824619-36824620	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs376449347	chr2:36824650-36824651	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs534532991	chr2:36824664-36824665	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs6146716	chr2:36824691-36824692	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs56226524	chr2:36824708-36824709	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs145826228	chr2:36824731-36824732	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs188874962	chr2:36824739-36824740	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs193047234	chr2:36824758-36824759	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs563374320	chr2:36824788-36824789	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs575258464	chr2:36824792-36824793	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs542347898	chr2:36824835-36824836	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs560985776	chr2:36824844-36824845	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs528059777	chr2:36824846-36824847	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs540152224	chr2:36824872-36824873	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs370890152	chr2:36824875-36824876	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs532180665	chr2:36824893-36824894	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs550321564	chr2:36824896-36824897	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs568704491	chr2:36824928-36824929	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs5830430	chr2:36824956-36824957	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs397827274	chr2:36824957-36824958	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs530263503	chr2:36824961-36824962	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs548369673	chr2:36824981-36824982	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs565151559	chr2:36824990-36824991	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs566890439	chr2:36825000-36825001	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs113182836	chr2:36825012-36825013	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs371431783	chr2:36825021-36825022	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs564557666	chr2:36825071-36825072	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs559312556	chr2:36825073-36825074	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs373427081	chr2:36825075-36825076	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs372835725	chr2:36825096-36825097	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:36818000-36824200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:36820400-36824200	Enhancers	Liver	Liver
5	chr2:36821800-36824400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr2:36822200-36824400	Enhancers	Ovary	ovary
7	chr2:36822400-36824400	Enhancers	Stomach Mucosa	stomach
8	chr2:36822600-36824200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:36822600-36824200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:36822600-36824200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:36822600-36824200	Enhancers	Brain Substantia Nigra	brain
12	chr2:36822600-36824200	Enhancers	Fetal Lung	lung
13	chr2:36822600-36824200	Enhancers	Gastric	stomach
14	chr2:36822600-36824400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:36822600-36824600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr2:36822800-36824200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:36822800-36824600	Flanking Active TSS	HUVEC	blood vessel
18	chr2:36823000-36824200	Enhancers	Left Ventricle	heart
19	chr2:36823200-36824200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:36823200-36824200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:36823200-36824200	Enhancers	Esophagus	oesophagus
22	chr2:36823200-36824200	Enhancers	Right Atrium	heart
23	chr2:36823200-36824400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:36823200-36824400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:36823200-36824400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:36823200-36824400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr2:36823200-36824400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr2:36823200-36824400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr2:36823200-36824600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:36823200-36824800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr2:36823200-36824800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr2:36823400-36824200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:36823400-36824200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:36823400-36824200	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:36823400-36824200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:36823400-36824200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:36823400-36824200	Enhancers	Fetal Stomach	stomach
38	chr2:36823400-36824200	Flanking Active TSS	HepG2	liver
39	chr2:36823400-36824400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:36823400-36824400	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr2:36823400-36824400	Enhancers	Small Intestine	intestine
42	chr2:36823400-36824600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:36823400-36824600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:36823400-36824600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr2:36823400-36824600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr2:36823400-36824600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:36823400-36824600	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr2:36823400-36824600	Flanking Active TSS	Placenta	Placenta
49	chr2:36823400-36824600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr2:36823400-36824600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links