Variant report

Variant	esv3408427
Chromosome Location	chr22:21920977-21923825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:565)
CpG islands
(count:794)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21922578-21923467	K562	blood:	n/a	n/a
2	ARID3A	chr22:21921788-21922241	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:21921709-21922373	K562	blood:	n/a	n/a
4	ATF2	chr22:21921724-21922055	GM12878	blood:	n/a	n/a
5	ATF3	chr22:21921667-21923179	K562	blood:	n/a	chr22:21921934-21921943
6	ATF3	chr22:21921624-21922242	K562	blood:	n/a	chr22:21921934-21921943
7	BACH1	chr22:21921746-21922104	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr22:21921759-21922196	K562	blood:	n/a	n/a
9	BCL3	chr22:21921732-21922109	A549	lung:	n/a	chr22:21921934-21921947
10	BCLAF1	chr22:21921728-21922316	GM12878	blood:	n/a	chr22:21921934-21921947
11	BCLAF1	chr22:21921653-21922354	GM12878	blood:	n/a	chr22:21921934-21921947
12	BCLAF1	chr22:21921648-21924073	K562	blood:	n/a	chr22:21921934-21921947
13	BHLHE40	chr22:21921129-21921140	K562	blood:	n/a	n/a
14	BHLHE40	chr22:21921837-21922243	HepG2	liver:	n/a	chr22:21921976-21921992
15	BHLHE40	chr22:21921727-21923254	K562	blood:	n/a	chr22:21921976-21921992
16	BHLHE40	chr22:21921764-21922231	GM12878	blood:	n/a	chr22:21921976-21921992
17	BRCA1	chr22:21921856-21922207	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr22:21921126-21922341	K562	blood:	n/a	n/a
19	CBX3	chr22:21920593-21924521	K562	blood:	n/a	n/a
20	CCNT2	chr22:21921750-21923273	K562	blood:	n/a	chr22:21921947-21921956
21	CEBPB	chr22:21921667-21922104	K562	blood:	n/a	n/a
22	CEBPB	chr22:21920987-21922233	K562	blood:	n/a	chr22:21921241-21921252
23	CEBPB	chr22:21921750-21921958	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr22:21921125-21921433	HepG2	liver:	n/a	chr22:21921241-21921252
25	CEBPB	chr22:21921091-21921436	K562	blood:	n/a	chr22:21921241-21921252
26	CEBPD	chr22:21921666-21922376	K562	blood:	n/a	n/a
27	CEBPD	chr22:21921768-21922185	HepG2	liver:	n/a	n/a
28	CEBPD	chr22:21921784-21922111	HepG2	liver:	n/a	n/a
29	CHD1	chr22:21923151-21923341	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr22:21921759-21922946	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr22:21921745-21922906	GM12878	blood:	n/a	n/a
32	CHD2	chr22:21921751-21922133	HepG2	liver:	n/a	n/a
33	CHD2	chr22:21921713-21923233	K562	blood:	n/a	n/a
34	CHD2	chr22:21921698-21922248	GM12878	blood:	n/a	n/a
35	CHD2	chr22:21921807-21922267	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr22:21921773-21922163	Hela-S3	cervix:	n/a	n/a
37	CREB1	chr22:21921912-21922161	A549	lung:	n/a	n/a
38	CREB1	chr22:21921667-21923503	K562	blood:	n/a	n/a
39	CTCF	chr22:21922560-21922710	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr22:21921822-21921885	GM12892	blood:	n/a	n/a
41	CTCF	chr22:21921780-21921930	GM12873	blood:	n/a	n/a
42	CTCF	chr22:21921637-21922863	K562	blood:	n/a	n/a
43	CTCF	chr22:21922060-21922210	HMEC	breast:	n/a	n/a
44	CTCF	chr22:21921993-21922033	Lung_OC	lung:	n/a	n/a
45	CTCF	chr22:21922760-21922910	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr22:21921805-21922139	K562	blood:	n/a	n/a
47	CTCF	chr22:21923100-21923250	GM06990	blood:	n/a	n/a
48	CTCF	chr22:21922000-21922150	SAEC	small airway:	n/a	n/a
49	CTCF	chr22:21921934-21922048	Spleen_OC	spleen:	n/a	n/a
50	CUX1	chr22:21921749-21922102	K562	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21921828-21921878	PFSK-1	brain:	n/a
2	chr22:21921828-21921878	PFSK-1	brain:	n/a
3	chr22:21922638-21922688	H1-hESC	embryonic stem cell:	embryo
4	chr22:21921881-21921931	HUVEC	blood vessel:	n/a
5	chr22:21921731-21921781	HCM	heart:	n/a
6	chr22:21921269-21921319	LNCaP	prostate:	n/a
7	chr22:21922804-21922854	HAEpiC	amniotic membrane:	n/a
8	chr22:21922638-21922688	LNCaP	prostate:	n/a
9	chr22:21921881-21921931	HCF	heart:	n/a
10	chr22:21921869-21921919	AG09319	gingival:	n/a
11	chr22:21921879-21921929	GM06990	blood:	n/a
12	chr22:21921879-21921929	HRPEpiC	eye:	n/a
13	chr22:21922038-21922088	LNCaP	prostate:	n/a
14	chr22:21921869-21921919	Jurkat	blood:	n/a
15	chr22:21921743-21921793	Hela-S3	cervix:	n/a
16	chr22:21921269-21921319	NT2-D1	testis:	n/a
17	chr22:21922412-21922462	AG09319	gingival:	n/a
18	chr22:21921839-21921889	GM06990	blood:	n/a
19	chr22:21921879-21921929	AoSMC	blood vessel:	n/a
20	chr22:21921839-21921889	SK-N-SH	brain:	n/a
21	chr22:21922412-21922462	HCPEpiC	choroid plexus:	n/a
22	chr22:21921269-21921319	HPAEpiC	pulmonary alveolar:	n/a
23	chr22:21922638-21922688	HEEpiC	esophagus:	n/a
24	chr22:21921869-21921919	MCF10A-Er-Src	breast:	n/a
25	chr22:21921869-21921919	AoSMC	blood vessel:	n/a
26	chr22:21921881-21921931	SK-N-SH_RA	brain:	n/a
27	chr22:21922412-21922462	K562	blood:	n/a
28	chr22:21921828-21921878	GM12878	blood:	n/a
29	chr22:21921839-21921889	A549	lung:	n/a
30	chr22:21921833-21921883	SK-N-SH	brain:	n/a
31	chr22:21921828-21921878	MCF10A-Er-Src	breast:	n/a
32	chr22:21921869-21921919	ECC-1	luminal epithelium:	n/a
33	chr22:21921833-21921883	Hepatocyte	liver:	n/a
34	chr22:21921269-21921319	HMEC	breast:	n/a
35	chr22:21921828-21921878	GM06990	blood:	n/a
36	chr22:21921269-21921319	T-47D	breast:	n/a
37	chr22:21921869-21921919	PANC-1	pancreas:	n/a
38	chr22:21921743-21921793	SK-N-SH_RA	brain:	n/a
39	chr22:21921881-21921931	HCM	heart:	n/a
40	chr22:21922038-21922088	PFSK-1	brain:	n/a
41	chr22:21922638-21922688	RPTEC	kidney:	n/a
42	chr22:21922804-21922854	A549	lung:	n/a
43	chr22:21921731-21921781	LNCaP	prostate:	n/a
44	chr22:21921879-21921929	A549	lung:	n/a
45	chr22:21921839-21921889	HMEC	breast:	n/a
46	chr22:21921833-21921883	AG04449	skin:	fetal
47	chr22:21921881-21921931	Caco-2	colon:	n/a
48	chr22:21921881-21921931	HCPEpiC	choroid plexus:	n/a
49	chr22:21921743-21921793	RPTEC	kidney:	n/a
50	chr22:21921881-21921931	PFSK-1	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:8268048..8269728-chr22:21922125..21923933,2	MCF-7	breast:
2	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:
3	chr22:21922720..21924374-chr22:21936117..21937710,2	MCF-7	breast:
4	chr22:21922090..21924831-chr5:33485334..33486835,3	K562	blood:
5	chr22:21921936..21923666-chr22:22337119..22338762,2	K562	blood:
6	chr22:21921535..21923886-chr22:21982326..21985629,8	MCF-7	breast:
7	chr20:49546476..49548738-chr22:21921516..21923782,2	K562	blood:
8	chr22:21920647..21924218-chr22:21994881..21998096,5	MCF-7	breast:
9	chr22:21757262..21759399-chr22:21922328..21924805,2	K562	blood:
10	chr22:21920727..21924429-chr22:22006455..22008474,3	MCF-7	breast:

No data

Variant related genes	Relation type
UBE2L3	TF binding region
UBE2L3	CpG island
ENSG00000273342	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000227634	chromatin interactions
ENSG00000259456	chromatin interactions
ENSG00000101126	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000161180	chromatin interactions
ENSG00000212102	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 223 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372104378	chr22:21921013-21921014	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs373414241	chr22:21921061-21921062	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs113929149	chr22:21921172-21921173	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs533961301	chr22:21921185-21921186	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs183347144	chr22:21921197-21921198	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs577057557	chr22:21921198-21921199	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs546165866	chr22:21921203-21921204	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs376056632	chr22:21921208-21921209	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs149922741	chr22:21921269-21921270	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs5998522	chr22:21921278-21921279	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs140489	chr22:21921294-21921295	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs561403721	chr22:21921323-21921324	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs372503502	chr22:21921360-21921361	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs139132401	chr22:21921373-21921374	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs112640997	chr22:21921454-21921455	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs540808685	chr22:21921460-21921461	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs560565065	chr22:21921465-21921466	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs532839198	chr22:21921489-21921490	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs556688287	chr22:21921532-21921533	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs573889577	chr22:21921556-21921557	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs552408776	chr22:21921583-21921584	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs569219689	chr22:21921599-21921600	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs111234186	chr22:21921601-21921602	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs3761415	chr22:21921628-21921629	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543231685	chr22:21921635-21921636	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs2194827	chr22:21921643-21921644	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570541514	chr22:21921652-21921653	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs188462869	chr22:21921680-21921681	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs140490	chr22:21921686-21921687	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs559765589	chr22:21921703-21921704	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs373808242	chr22:21921722-21921723	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs148817681	chr22:21921743-21921744	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs576424442	chr22:21921786-21921787	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs143462358	chr22:21921793-21921794	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs531749424	chr22:21921864-21921865	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs7290873	chr22:21921873-21921874	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117317477	chr22:21921920-21921921	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs574868977	chr22:21921984-21921985	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs372195361	chr22:21921998-21921999	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs376221065	chr22:21922015-21922016	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs376047001	chr22:21922018-21922019	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs560640835	chr22:21922070-21922071	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs532529556	chr22:21922073-21922074	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs546004349	chr22:21922084-21922085	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs192668130	chr22:21922094-21922095	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs368594905	chr22:21922103-21922104	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs531910590	chr22:21922113-21922114	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs548154223	chr22:21922158-21922159	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs561574274	chr22:21922214-21922215	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs150947879	chr22:21922245-21922246	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:223)

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	22495311	CNVD
Lung cancer	18438408	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
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
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
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
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
22q11.2 deletion syndrome	22563040	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
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cognitive impairment	21505072	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21910600-21921800	Weak transcription	Right Atrium	heart
2	chr22:21914400-21921600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:21918400-21921400	Enhancers	K562	blood
4	chr22:21919200-21921200	Weak transcription	HepG2	liver
5	chr22:21919200-21922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:21919600-21921800	Weak transcription	Thymus	Thymus
7	chr22:21921000-21921800	Enhancers	Pancreas	Pancrea
8	chr22:21921000-21922000	Enhancers	Spleen	Spleen
9	chr22:21921200-21921600	Enhancers	Primary B cells from peripheral blood	blood
10	chr22:21921200-21921600	Enhancers	HepG2	liver
11	chr22:21921400-21921600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr22:21921400-21921600	Enhancers	Placenta	Placenta
13	chr22:21921400-21921800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr22:21921400-21921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr22:21921400-21922800	Active TSS	K562	blood
16	chr22:21921600-21921800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:21921600-21921800	Enhancers	Fetal Muscle Leg	muscle
18	chr22:21921600-21921800	Enhancers	Fetal Stomach	stomach
19	chr22:21921600-21921800	Enhancers	Fetal Thymus	thymus
20	chr22:21921600-21922000	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr22:21921600-21922000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr22:21921600-21922000	Flanking Active TSS	Placenta	Placenta
23	chr22:21921600-21922200	Active TSS	HepG2	liver
24	chr22:21921600-21922400	Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr22:21921600-21922400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:21921600-21922600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:21921600-21922600	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr22:21921600-21922600	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr22:21921600-21922600	Active TSS	Adipose Nuclei	Adipose
30	chr22:21921600-21922600	Active TSS	Brain Anterior Caudate	brain
31	chr22:21921600-21922600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr22:21921600-21922600	Active TSS	Brain Substantia Nigra	brain
33	chr22:21921600-21922600	Active TSS	Rectal Smooth Muscle	rectum
34	chr22:21921600-21922600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr22:21921600-21922600	Active TSS	Stomach Smooth Muscle	stomach
36	chr22:21921600-21922600	Active TSS	Dnd41	blood
37	chr22:21921600-21922600	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr22:21921600-21922800	Active TSS	Brain Angular Gyrus	brain
39	chr22:21921600-21922800	Active TSS	Brain Cingulate Gyrus	brain
40	chr22:21921600-21922800	Active TSS	Colon Smooth Muscle	Colon
41	chr22:21921600-21922800	Active TSS	Fetal Brain Female	brain
42	chr22:21921600-21922800	Active TSS	Left Ventricle	heart
43	chr22:21921600-21922800	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr22:21921600-21922800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr22:21921600-21923000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:21921600-21923000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:21921600-21923000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:21921600-21923000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:21921600-21923000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:21921600-21923000	Active TSS	Brain Germinal Matrix	brain

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