Variant report

Variant	esv1848267
Chromosome Location	chr22:20370719-20500660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1886)
CpG islands
(count:1221)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1886 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr22:20378235-20378418	GM12878	blood:	n/a	n/a
2	BATF	chr22:20427669-20427862	GM12878	blood:	n/a	n/a
3	BATF	chr22:20378615-20378824	GM12878	blood:	n/a	n/a
4	BATF	chr22:20379205-20379431	GM12878	blood:	n/a	n/a
5	BATF	chr22:20445015-20445218	GM12878	blood:	n/a	n/a
6	BCL11A	chr22:20460690-20460996	GM12878	blood:	n/a	n/a
7	BCL11A	chr22:20424439-20424711	GM12878	blood:	n/a	n/a
8	BHLHE40	chr22:20460604-20460954	HepG2	liver:	n/a	n/a
9	BHLHE40	chr22:20428314-20428573	HepG2	liver:	n/a	n/a
10	BHLHE40	chr22:20378988-20379084	GM12878	blood:	n/a	n/a
11	BHLHE40	chr22:20420653-20421045	HepG2	liver:	n/a	chr22:20420721-20420737
12	BHLHE40	chr22:20436958-20437296	HepG2	liver:	n/a	n/a
13	BHLHE40	chr22:20378358-20378553	HepG2	liver:	n/a	n/a
14	BHLHE40	chr22:20445081-20445367	HepG2	liver:	n/a	n/a
15	CBX3	chr22:20420629-20421065	K562	blood:	n/a	n/a
16	CBX3	chr22:20420272-20421095	K562	blood:	n/a	n/a
17	CBX3	chr22:20450575-20451117	K562	blood:	n/a	n/a
18	CBX3	chr22:20377744-20379764	K562	blood:	n/a	n/a
19	CBX3	chr22:20460679-20461023	K562	blood:	n/a	n/a
20	CBX3	chr22:20424749-20427337	K562	blood:	n/a	n/a
21	CBX3	chr22:20423295-20424707	K562	blood:	n/a	n/a
22	CBX3	chr22:20454740-20456344	K562	blood:	n/a	n/a
23	CBX3	chr22:20444910-20445645	K562	blood:	n/a	n/a
24	CBX3	chr22:20408901-20410101	K562	blood:	n/a	n/a
25	CBX3	chr22:20459968-20461115	K562	blood:	n/a	n/a
26	CBX3	chr22:20441631-20442615	K562	blood:	n/a	n/a
27	CEBPB	chr22:20437259-20437596	K562	blood:	n/a	n/a
28	CEBPB	chr22:20428730-20428899	K562	blood:	n/a	n/a
29	CEBPB	chr22:20407773-20408094	K562	blood:	n/a	n/a
30	CEBPB	chr22:20420603-20421116	K562	blood:	n/a	chr22:20420901-20420912
31	CEBPB	chr22:20441660-20442283	K562	blood:	n/a	n/a
32	CEBPB	chr22:20447394-20447719	K562	blood:	n/a	n/a
33	CEBPB	chr22:20462825-20463220	K562	blood:	n/a	n/a
34	CEBPB	chr22:20437060-20437626	K562	blood:	n/a	n/a
35	CEBPB	chr22:20418866-20419026	HepG2	liver:	n/a	n/a
36	CEBPB	chr22:20445369-20445569	K562	blood:	n/a	n/a
37	CEBPB	chr22:20417912-20418536	K562	blood:	n/a	n/a
38	CEBPB	chr22:20427068-20427414	K562	blood:	n/a	n/a
39	CEBPB	chr22:20445011-20445575	K562	blood:	n/a	n/a
40	CEBPB	chr22:20428597-20429008	K562	blood:	n/a	n/a
41	CEBPB	chr22:20418225-20418487	K562	blood:	n/a	n/a
42	CEBPD	chr22:20437199-20437678	K562	blood:	n/a	n/a
43	CEBPD	chr22:20378856-20379192	K562	blood:	n/a	n/a
44	CEBPD	chr22:20426520-20427025	K562	blood:	n/a	n/a
45	CEBPD	chr22:20441629-20442366	K562	blood:	n/a	n/a
46	CEBPD	chr22:20444985-20445622	K562	blood:	n/a	n/a
47	CEBPD	chr22:20420620-20421076	K562	blood:	n/a	n/a
48	CEBPD	chr22:20427039-20427449	K562	blood:	n/a	n/a
49	CEBPD	chr22:20427674-20428046	K562	blood:	n/a	n/a
50	CEBPD	chr22:20407743-20408227	K562	blood:	n/a	n/a

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20423500-20423550	GM12892	blood:	n/a
2	chr22:20423500-20423550	GM12892	blood:	n/a
3	chr22:20457884-20457934	MCF10A-Er-Src	breast:	n/a
4	chr22:20381640-20381690	HCM	heart:	n/a
5	chr22:20378953-20379003	GM12891	blood:	n/a
6	chr22:20462514-20462564	NHDF-neo	bronchial:	n/a
7	chr22:20432168-20432218	HMEC	breast:	n/a
8	chr22:20483668-20483718	HAEpiC	amniotic membrane:	n/a
9	chr22:20484804-20484854	SK-N-SH	brain:	n/a
10	chr22:20399974-20400024	HEK293	kidney:	embryo
11	chr22:20481341-20481391	HIPEpiC	eye:	n/a
12	chr22:20376405-20376455	HCM	heart:	n/a
13	chr22:20376405-20376455	HEK293	kidney:	embryo
14	chr22:20381640-20381690	GM12891	blood:	n/a
15	chr22:20384320-20384370	AG09319	gingival:	n/a
16	chr22:20384320-20384370	NB4	blood:	n/a
17	chr22:20399974-20400024	Hela-S3	cervix:	n/a
18	chr22:20485872-20485922	GM12892	blood:	n/a
19	chr22:20462514-20462564	HRE	kidney:	n/a
20	chr22:20378532-20378582	SK-N-MC	brain:	n/a
21	chr22:20462514-20462564	SAEC	small airway:	n/a
22	chr22:20423500-20423550	HL-60	blood:	n/a
23	chr22:20400015-20400065	NB4	blood:	n/a
24	chr22:20381640-20381690	LNCaP	prostate:	n/a
25	chr22:20423500-20423550	AG09319	gingival:	n/a
26	chr22:20400015-20400065	ECC-1	luminal epithelium:	n/a
27	chr22:20384320-20384370	GM19239	blood:	n/a
28	chr22:20378953-20379003	BE2_C	brain:	n/a
29	chr22:20456706-20456756	HAEpiC	amniotic membrane:	n/a
30	chr22:20376405-20376455	Jurkat	blood:	n/a
31	chr22:20481341-20481391	BE2_C	brain:	n/a
32	chr22:20423500-20423550	AG04449	skin:	fetal
33	chr22:20485872-20485922	NH-A	brain:	n/a
34	chr22:20378953-20379003	MCF-7	breast:	n/a
35	chr22:20378953-20379003	BJ	skin:	n/a
36	chr22:20399974-20400024	AG04449	skin:	fetal
37	chr22:20400015-20400065	Hepatocyte	liver:	n/a
38	chr22:20399601-20399651	HUVEC	blood vessel:	n/a
39	chr22:20456706-20456756	Jurkat	blood:	n/a
40	chr22:20464947-20464997	HepG2	liver:	n/a
41	chr22:20462514-20462564	Hepatocyte	liver:	n/a
42	chr22:20376405-20376455	HPAEpiC	pulmonary alveolar:	n/a
43	chr22:20381640-20381690	HRE	kidney:	n/a
44	chr22:20462514-20462564	K562	blood:	n/a
45	chr22:20378532-20378582	GM19239	blood:	n/a
46	chr22:20400015-20400065	AG09319	gingival:	n/a
47	chr22:20376405-20376455	SKMC	muscle:	n/a
48	chr22:20462514-20462564	GM12891	blood:	n/a
49	chr22:20378953-20379003	U87	brain:	n/a
50	chr22:20376405-20376455	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:20378583..20380116-chr22:21982503..21985257,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMBP3-1	chr22:20455669-20455969	NONHSAT083514
2	lnc-AC007663.1-5	chr22:20420432-20420591	XLOC_014158
3	lnc-AC007663.1-5	chr22:20404157-20404240	XLOC_014158
4	lnc-AC007663.1-5	chr22:20401139-20401184	XLOC_014158

No data

Variant related genes	Relation type
CA15P2	TF binding region
ENSG00000235704	TF binding region
ENSG00000206176	TF binding region
ENSG00000236984	TF binding region
GGTLC3	TF binding region
ENSG00000271796	TF binding region
ENSG00000252571	TF binding region
ENSG00000252024	TF binding region
RIMBP3	TF binding region
PI4KAP1	TF binding region
RN7SKP131	TF binding region
CA15P2	CpG island
ENSG00000235704	CpG island
ENSG00000206176	CpG island
ENSG00000236984	CpG island
GGTLC3	CpG island
ENSG00000271796	CpG island
ENSG00000252571	CpG island
ENSG00000252024	CpG island
RIMBP3	CpG island
PI4KAP1	CpG island
RN7SKP131	CpG island
ENSG00000161179	chromatin interactions
E2F1	miRNA target sites

Extended variants
information (count: 785 )
Associated
traits (count: 238 )

Variant overlapped rSNPs/rCNVs (count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567742652	chr22:20370750-20370751	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2542834	chr22:20370755-20370756	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs536779082	chr22:20370791-20370792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs553395584	chr22:20370793-20370794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573322679	chr22:20371149-20371150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540921776	chr22:20371156-20371157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561612363	chr22:20371173-20371174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs558042939	chr22:20371215-20371216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs12163283	chr22:20371240-20371241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2542835	chr22:20371297-20371298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543581572	chr22:20371354-20371355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs563176590	chr22:20371367-20371368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs528944475	chr22:20371527-20371528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs542359039	chr22:20371570-20371571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558874319	chr22:20371965-20371966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs545672115	chr22:20371990-20371991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111910206	chr22:20373153-20373154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2845467	chr22:20373154-20373155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs28817036	chr22:20374243-20374244	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs364634	chr22:20374989-20374990	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs455419	chr22:20375121-20375122	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs2542838	chr22:20376408-20376409	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
23	rs187420657	chr22:20376435-20376436	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
24	rs2542839	chr22:20376436-20376437	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
25	rs2542840	chr22:20376451-20376452	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
26	rs530329386	chr22:20377081-20377082	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs9606373	chr22:20377107-20377108	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs547082951	chr22:20377122-20377123	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs566993280	chr22:20377251-20377252	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs538790825	chr22:20377321-20377322	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs552532674	chr22:20377439-20377440	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs569201271	chr22:20377457-20377458	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs537303488	chr22:20377484-20377485	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs556844004	chr22:20377585-20377586	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs383405	chr22:20377592-20377593	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs528279498	chr22:20377661-20377662	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs536060938	chr22:20377662-20377663	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs537392944	chr22:20377679-20377680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs422893	chr22:20377761-20377762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs57709467	chr22:20377862-20377863	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs552779430	chr22:20378103-20378104	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs112949193	chr22:20378136-20378137	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs59604560	chr22:20378160-20378161	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs57534452	chr22:20378162-20378163	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs540004555	chr22:20378187-20378188	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs572881958	chr22:20378199-20378200	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs544818630	chr22:20378353-20378354	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs564895273	chr22:20378381-20378382	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs575136065	chr22:20378438-20378439	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544879469	chr22:20378499-20378500	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:238)

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
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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21526130	CNVD
Ependymoma	20639864	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20377000-20377200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr22:20377000-20377200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:20377000-20377400	Enhancers	Dnd41	blood
4	chr22:20377400-20378000	Weak transcription	Dnd41	blood
5	chr22:20378000-20378600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr22:20378000-20378600	Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr22:20378000-20379000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr22:20378000-20379000	Active TSS	Primary monocytes fromperipheralblood	blood
9	chr22:20378000-20379000	Active TSS	Primary B cells from peripheral blood	blood
10	chr22:20378000-20379000	Active TSS	Primary T cells fromperipheralblood	blood
11	chr22:20378000-20379000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr22:20378000-20379000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:20378000-20379000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:20378000-20379000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr22:20378000-20379000	Active TSS	Fetal Stomach	stomach
16	chr22:20378000-20379000	Active TSS	Fetal Thymus	thymus
17	chr22:20378000-20379000	Active TSS	Dnd41	blood
18	chr22:20378000-20379000	Active TSS	HepG2	liver
19	chr22:20378000-20379000	Active TSS	HMEC	breast
20	chr22:20378000-20379200	Active TSS	Brain Germinal Matrix	brain
21	chr22:20378000-20379800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:20378000-20380000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:20378200-20378600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:20378200-20378800	Active TSS	Fetal Muscle Leg	muscle
25	chr22:20378200-20379000	Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr22:20378200-20379000	Active TSS	Fetal Intestine Large	intestine
27	chr22:20378200-20379000	Active TSS	HSMM	muscle
28	chr22:20378400-20378800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:20378400-20378800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr22:20378400-20378800	Active TSS	Ovary	ovary
31	chr22:20378400-20378800	Active TSS	HSMMtube	muscle
32	chr22:20378400-20379000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr22:20378400-20379000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr22:20378400-20379000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr22:20378400-20379000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr22:20378400-20379000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:20378400-20379000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr22:20378400-20379000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr22:20378400-20379000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr22:20378400-20379000	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr22:20378400-20379000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr22:20378400-20379000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:20378400-20379000	Active TSS	Adipose Nuclei	Adipose
44	chr22:20378400-20379000	Active TSS	Brain Cingulate Gyrus	brain
45	chr22:20378400-20379000	Active TSS	Brain Hippocampus Middle	brain
46	chr22:20378400-20379000	Active TSS	Colon Smooth Muscle	Colon
47	chr22:20378400-20379000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr22:20378400-20379000	Active TSS	Right Atrium	heart
49	chr22:20378400-20379000	Active TSS	Stomach Smooth Muscle	stomach
50	chr22:20378400-20379000	Active TSS	K562	blood

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