Variant report

Variant	esv3376057
Chromosome Location	chr22:20285977-20288825
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	ATF3	chr22:20286241-20287192	K562	blood:	n/a	chr22:20287075-20287084
2	BACH1	chr22:20285769-20287619	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr22:20286901-20287193	GM12878	blood:	n/a	n/a
4	BHLHE40	chr22:20286514-20287236	K562	blood:	n/a	chr22:20286894-20286910
5	CBX3	chr22:20286163-20287284	K562	blood:	n/a	n/a
6	CCNT2	chr22:20286338-20287493	K562	blood:	n/a	chr22:20286931-20286940 chr22:20287115-20287124
7	CEBPB	chr22:20286525-20286552	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr22:20288547-20288718	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr22:20286425-20287303	Hela-S3	cervix:	n/a	chr22:20286716-20286726
10	CHD2	chr22:20286589-20286760	K562	blood:	n/a	chr22:20286716-20286726
11	CREB1	chr22:20286880-20287216	A549	lung:	n/a	n/a
12	CTCF	chr22:20287444-20287540	GM19240	blood:	n/a	n/a
13	CTCF	chr22:20287439-20287527	GM19238	blood:	n/a	n/a
14	CTCF	chr22:20287433-20287498	GM12878	blood:	n/a	n/a
15	CTCF	chr22:20288057-20288148	Lung_OC	lung:	n/a	n/a
16	CTCF	chr22:20287412-20287562	GM19239	blood:	n/a	n/a
17	CTCF	chr22:20287380-20287530	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr22:20287454-20287527	GM12892	blood:	n/a	n/a
19	CTCF	chr22:20287400-20287550	SAEC	small airway:	n/a	n/a
20	CTCF	chr22:20287340-20287490	AG04449	skin:	n/a	n/a
21	CTCF	chr22:20287415-20287572	MCF-7	breast:	n/a	n/a
22	CTCF	chr22:20287360-20287510	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr22:20287459-20287511	MCF-7	breast:	n/a	n/a
24	CTCF	chr22:20287451-20287524	MCF-7	breast:	n/a	n/a
25	CTCF	chr22:20287426-20287536	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr22:20287465-20287475	ProgFib	skin:	n/a	n/a
27	CTCF	chr22:20287460-20287610	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr22:20287452-20287532	GM12891	blood:	n/a	n/a
29	CTCF	chr22:20287429-20287558	NHEK	skin:	n/a	n/a
30	CTCF	chr22:20287399-20287572	MCF-7	breast:	n/a	n/a
31	CTCF	chr22:20288738-20288771	GM12891	blood:	n/a	n/a
32	CTCF	chr22:20287380-20287530	HMEC	breast:	n/a	n/a
33	CTCF	chr22:20287480-20287630	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr22:20287400-20287550	GM12871	blood:	n/a	n/a
35	CTCF	chr22:20287410-20287624	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr22:20287380-20287530	NHEK	skin:	n/a	n/a
37	CTCF	chr22:20287410-20287563	MCF-7	breast:	n/a	n/a
38	CTCF	chr22:20287023-20287073	Kidney_OC	kidney:	n/a	n/a
39	E2F4	chr22:20286989-20287500	K562	blood:	n/a	chr22:20287070-20287079
40	E2F4	chr22:20287129-20287297	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr22:20286473-20286770	MCF10A-Er-Src	breast:	n/a	chr22:20286715-20286724 chr22:20286574-20286584
42	E2F6	chr22:20286516-20287182	K562	blood:	n/a	chr22:20286715-20286724 chr22:20286574-20286584 chr22:20287070-20287079
43	E2F6	chr22:20286513-20287646	K562	blood:	n/a	chr22:20286715-20286724 chr22:20286574-20286584 chr22:20287489-20287504 chr22:20287070-20287079
44	E2F6	chr22:20287232-20287577	K562	blood:	n/a	chr22:20287489-20287504
45	E2F6	chr22:20286832-20287394	A549	lung:	n/a	chr22:20287070-20287079
46	E2F6	chr22:20286522-20287596	K562	blood:	n/a	chr22:20286715-20286724 chr22:20286574-20286584 chr22:20287489-20287504 chr22:20287070-20287079
47	E2F6	chr22:20286946-20287393	A549	lung:	n/a	chr22:20287070-20287079
48	EBF1	chr22:20287231-20287568	GM12878	blood:	n/a	n/a
49	EGR1	chr22:20286352-20287561	K562	blood:	n/a	chr22:20287150-20287163 chr22:20286548-20286557 chr22:20287069-20287079 chr22:20286569-20286579 chr22:20286710-20286723 chr22:20287155-20287165 chr22:20287024-20287034 chr22:20286570-20286580
50	EGR1	chr22:20286362-20287604	K562	blood:	n/a	chr22:20287150-20287163 chr22:20286548-20286557 chr22:20287069-20287079 chr22:20286569-20286579 chr22:20286710-20286723 chr22:20287155-20287165 chr22:20287024-20287034 chr22:20286570-20286580

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20288286-20288336	HRPEpiC	eye:	n/a
2	chr22:20288286-20288336	GM19239	blood:	n/a
3	chr22:20288286-20288336	AG09319	gingival:	n/a
4	chr22:20287622-20287672	SAEC	small airway:	n/a
5	chr22:20286454-20286504	NH-A	brain:	n/a
6	chr22:20286454-20286504	HEEpiC	esophagus:	n/a
7	chr22:20287622-20287672	NHBE	bronchial:	n/a
8	chr22:20286454-20286504	AoSMC	blood vessel:	n/a
9	chr22:20286454-20286504	AG09309	skin:	n/a
10	chr22:20286845-20286895	AoSMC	blood vessel:	n/a
11	chr22:20286845-20286895	HPAEpiC	pulmonary alveolar:	n/a
12	chr22:20286845-20286895	HMEC	breast:	n/a
13	chr22:20288286-20288336	Hepatocyte	liver:	n/a
14	chr22:20287622-20287672	Caco-2	colon:	n/a
15	chr22:20286454-20286504	CMK	blood:	n/a
16	chr22:20288286-20288336	GM12891	blood:	n/a
17	chr22:20287622-20287672	NT2-D1	testis:	n/a
18	chr22:20286454-20286504	SK-N-SH_RA	brain:	n/a
19	chr22:20287622-20287672	HRE	kidney:	n/a
20	chr22:20286454-20286504	HCF	heart:	n/a
21	chr22:20287622-20287672	Hepatocyte	liver:	n/a
22	chr22:20286454-20286504	T-47D	breast:	n/a
23	chr22:20288286-20288336	HCM	heart:	n/a
24	chr22:20286454-20286504	PANC-1	pancreas:	n/a
25	chr22:20287622-20287672	HCPEpiC	choroid plexus:	n/a
26	chr22:20288286-20288336	GM12892	blood:	n/a
27	chr22:20288286-20288336	HCF	heart:	n/a
28	chr22:20286454-20286504	HCM	heart:	n/a
29	chr22:20288286-20288336	HCPEpiC	choroid plexus:	n/a
30	chr22:20286845-20286895	HEEpiC	esophagus:	n/a
31	chr22:20287622-20287672	Hela-S3	cervix:	n/a
32	chr22:20286845-20286895	HEK293	kidney:	embryo
33	chr22:20288286-20288336	HMEC	breast:	n/a
34	chr22:20286845-20286895	HRPEpiC	eye:	n/a
35	chr22:20287622-20287672	LNCaP	prostate:	n/a
36	chr22:20287622-20287672	HMEC	breast:	n/a
37	chr22:20286845-20286895	Hepatocyte	liver:	n/a
38	chr22:20288286-20288336	NH-A	brain:	n/a
39	chr22:20286454-20286504	HCT-116	colon:	n/a
40	chr22:20286454-20286504	Caco-2	colon:	n/a
41	chr22:20286454-20286504	K562	blood:	n/a
42	chr22:20286454-20286504	U87	brain:	n/a
43	chr22:20286845-20286895	AG09309	skin:	n/a
44	chr22:20286845-20286895	HCF	heart:	n/a
45	chr22:20287622-20287672	K562	blood:	n/a
46	chr22:20287622-20287672	HAEpiC	amniotic membrane:	n/a
47	chr22:20286845-20286895	SK-N-MC	brain:	n/a
48	chr22:20286845-20286895	HCM	heart:	n/a
49	chr22:20287622-20287672	GM19239	blood:	n/a
50	chr22:20286845-20286895	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:20118465..20120580-chr22:20285203..20287703,2	MCF-7	breast:
2	chr22:20286073..20290077-chr22:20848237..20851733,4	K562	blood:
3	chr22:20286073..20288681-chr22:20850193..20851733,2	K562	blood:
4	chr22:20174347..20176842-chr22:20283919..20286153,2	K562	blood:
5	chr22:20286655..20288759-chr22:20746416..20749237,2	K562	blood:
6	chr22:19973359..19974976-chr22:20284613..20286772,2	K562	blood:
7	chr22:20202926..20205511-chr22:20284838..20286981,3	K562	blood:
8	chr22:20283079..20285418-chr22:20288741..20290266,2	K562	blood:
9	chr22:20287625..20290156-chr22:20299260..20302039,3	MCF-7	breast:
10	chr22:18923190..18924236-chr22:20286992..20287781,4	MCF-7	breast:
11	chr22:20284063..20288249-chr22:20303567..20308986,5	K562	blood:
12	chr22:20284539..20286947-chr22:20746722..20748522,2	MCF-7	breast:
13	chr22:20284435..20289251-chr22:20305915..20309120,4	K562	blood:
14	chr22:20281007..20283182-chr22:20284432..20287016,2	MCF-7	breast:
15	chr22:20229699..20232677-chr22:20288701..20291206,2	K562	blood:

Variant related genes	Relation type
ENSG00000161132	TF binding region
ENSG00000161132	CpG island
ENSG00000040608	chromatin interactions
ENSG00000128185	chromatin interactions
ENSG00000099917	chromatin interactions
ENSG00000273343	chromatin interactions
ENSG00000099904	chromatin interactions
ENSG00000099889	chromatin interactions
ENSG00000100033	chromatin interactions
ENSG00000099910	chromatin interactions
ENSG00000273139	chromatin interactions
ENSG00000185252	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 231 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183709643	chr22:20285987-20285988	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs114365831	chr22:20285994-20285995	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs566914578	chr22:20286040-20286041	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs187687494	chr22:20286044-20286045	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs538761966	chr22:20286060-20286061	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs552518392	chr22:20286069-20286070	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs114718020	chr22:20286070-20286071	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs741413	chr22:20286099-20286100	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557271497	chr22:20286142-20286143	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs574032693	chr22:20286219-20286220	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs372226916	chr22:20286239-20286240	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs149692019	chr22:20286281-20286282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs552894637	chr22:20286325-20286326	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs35642095	chr22:20286328-20286329	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs376572771	chr22:20286334-20286335	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs572865732	chr22:20286335-20286336	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs193135860	chr22:20286373-20286374	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs145476542	chr22:20286385-20286386	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs141109831	chr22:20286424-20286425	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs574870114	chr22:20286539-20286540	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs202027003	chr22:20286544-20286545	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs543848057	chr22:20286552-20286553	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs561235734	chr22:20286590-20286591	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs185247328	chr22:20286631-20286632	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs546745559	chr22:20286642-20286643	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs560544007	chr22:20286643-20286644	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs369593973	chr22:20286691-20286692	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs190180979	chr22:20286789-20286790	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs373995251	chr22:20286813-20286814	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs552377543	chr22:20286843-20286844	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs569363127	chr22:20286897-20286898	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs548925655	chr22:20286930-20286931	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs548644436	chr22:20286937-20286938	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs567527430	chr22:20286953-20286954	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs536571767	chr22:20287044-20287045	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs553096351	chr22:20287046-20287047	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs572936348	chr22:20287067-20287068	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs377575880	chr22:20287069-20287070	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs712977	chr22:20287090-20287091	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs558363623	chr22:20287132-20287133	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs575033761	chr22:20287167-20287168	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs543763226	chr22:20287212-20287213	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs181936868	chr22:20287216-20287217	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs574766592	chr22:20287218-20287219	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs184027097	chr22:20287283-20287284	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs56117462	chr22:20287286-20287287	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs560877655	chr22:20287305-20287306	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs532576722	chr22:20287315-20287316	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs546424382	chr22:20287407-20287408	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs73396057	chr22:20287480-20287481	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:231)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22591714	CNVD
Autism	22958593	CNVD
Digeorge syndrome	16199537	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22241247	CNVD
Autism	22241247	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	18628472	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian neoplasms	16753589	CNVD
Schizophrenia	21399695	CNVD
22q11.21 microdeletion syndrome	19193630	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal cancer	21851588	CNVD
22q11.2 deletion syndrome	22563040	CNVD
cardiac septal defect	19239688	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Urothelial carcinoma	21177765	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20282400-20286400	Strong transcription	Right Atrium	heart
2	chr22:20285000-20286000	Enhancers	Fetal Intestine Large	intestine
3	chr22:20285400-20286200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:20285600-20286000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:20285600-20286400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr22:20285600-20286400	Enhancers	Spleen	Spleen
7	chr22:20285800-20286000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr22:20285800-20286000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:20285800-20286000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:20285800-20286000	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr22:20285800-20286200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:20285800-20286200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:20285800-20286400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:20285800-20286400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:20285800-20286400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr22:20285800-20286800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr22:20285800-20287400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr22:20285800-20287600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr22:20285800-20287600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr22:20285800-20287600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr22:20285800-20287800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr22:20286000-20286200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr22:20286000-20286200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr22:20286000-20286200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:20286000-20286200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:20286000-20286200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:20286000-20286200	Bivalent Enhancer	Fetal Stomach	stomach
28	chr22:20286000-20286400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:20286000-20286400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:20286000-20286400	Enhancers	Primary B cells from peripheral blood	blood
31	chr22:20286000-20286400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr22:20286000-20286400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr22:20286000-20286400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:20286000-20286400	Enhancers	Esophagus	oesophagus
35	chr22:20286000-20286400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr22:20286000-20286400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
37	chr22:20286000-20286400	Bivalent Enhancer	Placenta	Placenta
38	chr22:20286000-20286800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr22:20286000-20286800	Bivalent Enhancer	Fetal Thymus	thymus
40	chr22:20286000-20287600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:20286000-20287800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr22:20286000-20287800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr22:20286000-20287800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:20286000-20288000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr22:20286200-20286400	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
46	chr22:20286200-20286400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:20286200-20286400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:20286200-20286400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:20286200-20286400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr22:20286200-20286400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links