Variant report

Variant	nsv966157
Chromosome Location	chr22:21557044-21585177
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	BATF	chr22:21582473-21582683	GM12878	blood:	n/a	n/a
2	BATF	chr22:21561792-21562184	GM12878	blood:	n/a	n/a
3	BCL11A	chr22:21561919-21562177	GM12878	blood:	n/a	n/a
4	BCL11A	chr22:21564368-21564603	GM12878	blood:	n/a	n/a
5	BCL11A	chr22:21561794-21562148	GM12878	blood:	n/a	n/a
6	BCL11A	chr22:21557216-21557815	GM12878	blood:	n/a	n/a
7	BCL11A	chr22:21584761-21585002	GM12878	blood:	n/a	n/a
8	BCL11A	chr22:21584076-21584251	GM12878	blood:	n/a	n/a
9	BCL3	chr22:21557190-21557398	GM12878	blood:	n/a	n/a
10	BHLHE40	chr22:21561447-21561821	HepG2	liver:	n/a	n/a
11	BHLHE40	chr22:21558173-21558644	HepG2	liver:	n/a	n/a
12	CBX3	chr22:21569776-21570074	K562	blood:	n/a	n/a
13	CEBPD	chr22:21579036-21579644	K562	blood:	n/a	n/a
14	CTCF	chr22:21581672-21581749	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr22:21562328-21562366	GM13976	blood:	n/a	n/a
16	CTCF	chr22:21581478-21582013	K562	blood:	n/a	n/a
17	CTCF	chr22:21561628-21562347	K562	blood:	n/a	chr22:21561995-21562005 chr22:21561998-21562007 chr22:21561987-21562008 chr22:21561992-21562010 chr22:21561807-21561816 chr22:21561840-21561853
18	CTCF	chr22:21567787-21567917	GM13977	blood:	n/a	chr22:21567845-21567863
19	CTCF	chr22:21581663-21581771	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr22:21569785-21569879	GM19238	blood:	n/a	n/a
21	CTCF	chr22:21568080-21568230	K562	blood:	n/a	n/a
22	CTCF	chr22:21567652-21568013	K562	blood:	n/a	chr22:21567845-21567863
23	CTCF	chr22:21569781-21569910	K562	blood:	n/a	n/a
24	CTCF	chr22:21569735-21569947	GM10266	blood:	n/a	n/a
25	CTCF	chr22:21569750-21569944	GM10248	blood:	n/a	n/a
26	CTCF	chr22:21569677-21570102	K562	blood:	n/a	n/a
27	CTCF	chr22:21569651-21570009	K562	blood:	n/a	n/a
28	CTCF	chr22:21561871-21562116	GM13976	blood:	n/a	chr22:21561995-21562005 chr22:21561998-21562007 chr22:21561987-21562008 chr22:21561992-21562010
29	CTCF	chr22:21572903-21572995	GM10248	blood:	n/a	n/a
30	CTCF	chr22:21569669-21570014	A549	lung:	n/a	n/a
31	CTCF	chr22:21567665-21567994	K562	blood:	n/a	chr22:21567845-21567863
32	CTCF	chr22:21581745-21581765	MCF-7	breast:	n/a	n/a
33	CTCF	chr22:21568940-21569004	GM10248	blood:	n/a	n/a
34	CTCF	chr22:21567811-21567931	LNCaP	prostate:	n/a	chr22:21567845-21567863
35	CTCF	chr22:21567769-21567958	GM10266	blood:	n/a	chr22:21567845-21567863
36	CTCF	chr22:21561752-21562236	K562	blood:	n/a	chr22:21561995-21562005 chr22:21561998-21562007 chr22:21561987-21562008 chr22:21561992-21562010 chr22:21561807-21561816 chr22:21561840-21561853
37	CTCF	chr22:21569756-21569941	GM13977	blood:	n/a	n/a
38	CTCF	chr22:21569765-21569918	A549	lung:	n/a	n/a
39	CTCF	chr22:21569782-21569886	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr22:21561894-21562125	Kidney_OC	kidney:	n/a	chr22:21561995-21562005 chr22:21561998-21562007 chr22:21561987-21562008 chr22:21561992-21562010
41	CTCF	chr22:21569762-21569791	Lung_OC	lung:	n/a	n/a
42	CTCF	chr22:21561777-21562139	A549	lung:	n/a	chr22:21561995-21562005 chr22:21561998-21562007 chr22:21561987-21562008 chr22:21561992-21562010 chr22:21561807-21561816 chr22:21561840-21561853
43	CTCF	chr22:21581533-21581820	K562	blood:	n/a	n/a
44	CTCF	chr22:21561860-21562147	LNCaP	prostate:	n/a	chr22:21561995-21562005 chr22:21561998-21562007 chr22:21561987-21562008 chr22:21561992-21562010
45	CTCF	chr22:21581620-21581770	SAEC	small airway:	n/a	n/a
46	CTCF	chr22:21581638-21581753	GM10266	blood:	n/a	n/a
47	CTCF	chr22:21561611-21562204	A549	lung:	n/a	chr22:21561995-21562005 chr22:21561998-21562007 chr22:21561987-21562008 chr22:21561992-21562010 chr22:21561807-21561816 chr22:21561840-21561853
48	CTCF	chr22:21581633-21581809	LNCaP	prostate:	n/a	n/a
49	CTCF	chr22:21561873-21562131	Medullo	brain:	n/a	chr22:21561995-21562005 chr22:21561998-21562007 chr22:21561987-21562008 chr22:21561992-21562010
50	CTCF	chr22:21561727-21562166	K562	blood:	n/a	chr22:21561995-21562005 chr22:21561998-21562007 chr22:21561987-21562008 chr22:21561992-21562010 chr22:21561807-21561816 chr22:21561840-21561853

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21567227-21567277	NHBE	bronchial:	n/a
2	chr22:21567227-21567277	BE2_C	brain:	n/a
3	chr22:21567227-21567277	HPAEpiC	pulmonary alveolar:	n/a
4	chr22:21567227-21567277	RPTEC	kidney:	n/a
5	chr22:21567227-21567277	AG04450	lung:	fetal
6	chr22:21567227-21567277	HMEC	breast:	n/a
7	chr22:21567227-21567277	GM12878	blood:	n/a
8	chr22:21567227-21567277	ovcar-3	ovarian:	n/a
9	chr22:21567227-21567277	PANC-1	pancreas:	n/a
10	chr22:21567227-21567277	BJ	skin:	n/a
11	chr22:21567227-21567277	Jurkat	blood:	n/a
12	chr22:21567227-21567277	GM06990	blood:	n/a
13	chr22:21567227-21567277	ProgFib	skin:	n/a
14	chr22:21567227-21567277	AG09319	gingival:	n/a
15	chr22:21567227-21567277	LNCaP	prostate:	n/a
16	chr22:21567227-21567277	GM12891	blood:	n/a
17	chr22:21567227-21567277	HRPEpiC	eye:	n/a
18	chr22:21567227-21567277	SK-N-MC	brain:	n/a
19	chr22:21567227-21567277	PrEC	prostate:	n/a
20	chr22:21567227-21567277	HCT-116	colon:	n/a
21	chr22:21567227-21567277	SAEC	small airway:	n/a
22	chr22:21567227-21567277	SK-N-SH	brain:	n/a
23	chr22:21567227-21567277	AG04449	skin:	fetal
24	chr22:21567227-21567277	NT2-D1	testis:	n/a
25	chr22:21567227-21567277	AG10803	skin:	n/a
26	chr22:21567227-21567277	IMR90	lung:	fetal
27	chr22:21567227-21567277	CMK	blood:	n/a
28	chr22:21567227-21567277	U87	brain:	n/a
29	chr22:21567227-21567277	NB4	blood:	n/a
30	chr22:21567227-21567277	GM19239	blood:	n/a
31	chr22:21567227-21567277	HCF	heart:	n/a
32	chr22:21567227-21567277	HRCEpiC	kidney:	n/a
33	chr22:21567227-21567277	HUVEC	blood vessel:	n/a
34	chr22:21567227-21567277	MCF-7	breast:	n/a
35	chr22:21567227-21567277	MCF10A-Er-Src	breast:	n/a
36	chr22:21567227-21567277	HAEpiC	amniotic membrane:	n/a
37	chr22:21567227-21567277	ECC-1	luminal epithelium:	n/a
38	chr22:21567227-21567277	Hela-S3	cervix:	n/a
39	chr22:21567227-21567277	GM12892	blood:	n/a
40	chr22:21567227-21567277	NHDF-neo	bronchial:	n/a
41	chr22:21567227-21567277	AoSMC	blood vessel:	n/a
42	chr22:21567227-21567277	SKMC	muscle:	n/a
43	chr22:21567227-21567277	HEEpiC	esophagus:	n/a
44	chr22:21567227-21567277	T-47D	breast:	n/a
45	chr22:21567227-21567277	HepG2	liver:	n/a
46	chr22:21567227-21567277	Caco-2	colon:	n/a
47	chr22:21567227-21567277	HCM	heart:	n/a
48	chr22:21567227-21567277	HIPEpiC	eye:	n/a
49	chr22:21567227-21567277	H1-hESC	embryonic stem cell:	embryo
50	chr22:21567227-21567277	HNPCEpiC	eye:	n/a

Variant related genes	Relation type
GGT2	TF binding region
GGT2	CpG island

Extended variants
information (count: 728 )
Associated
traits (count: 228 )

Variant overlapped rSNPs/rCNVs (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373484895	chr22:21557230-21557231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377540303	chr22:21557241-21557242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544114783	chr22:21557266-21557267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201558515	chr22:21557268-21557269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529637628	chr22:21557278-21557279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75885650	chr22:21557287-21557288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2543392	chr22:21557288-21557289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79638301	chr22:21557299-21557300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374393972	chr22:21557300-21557301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112559344	chr22:21557316-21557317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141850698	chr22:21557348-21557349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200775095	chr22:21557349-21557350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528170026	chr22:21557383-21557384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112975494	chr22:21557448-21557449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368713332	chr22:21557470-21557471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372932442	chr22:21557508-21557509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201898062	chr22:21557626-21557627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370476211	chr22:21557641-21557642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375052377	chr22:21557652-21557653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200749114	chr22:21557671-21557672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369044307	chr22:21557676-21557677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551482741	chr22:21557732-21557733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571338070	chr22:21557748-21557749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368432962	chr22:21557750-21557751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371302796	chr22:21557758-21557759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537214413	chr22:21557787-21557788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200170290	chr22:21558100-21558101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201116619	chr22:21558105-21558106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202186364	chr22:21558160-21558161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376573313	chr22:21558242-21558243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200230917	chr22:21558428-21558429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62240953	chr22:21558437-21558438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567175093	chr22:21558448-21558449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536148148	chr22:21558461-21558462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62240954	chr22:21558486-21558487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562821601	chr22:21558489-21558490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62240955	chr22:21558498-21558499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199937638	chr22:21558524-21558525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375849458	chr22:21558557-21558558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369855411	chr22:21558575-21558576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534789499	chr22:21558582-21558583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372409606	chr22:21558603-21558604	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs558267939	chr22:21558604-21558605	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs531602708	chr22:21558617-21558618	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs370826140	chr22:21558620-21558621	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs5762878	chr22:21558722-21558723	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs369149862	chr22:21558749-21558750	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs200538358	chr22:21558757-21558758	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs377234742	chr22:21558758-21558759	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs574343965	chr22:21558772-21558773	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:228)

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
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
Glioblastoma multiforme	22286061	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
Type 2 diabetes	21526130	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21557200-21557400	Enhancers	Fetal Muscle Trunk	muscle
2	chr22:21557400-21558400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr22:21558400-21558600	Enhancers	Fetal Muscle Trunk	muscle
4	chr22:21558600-21559000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr22:21558600-21559000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:21558600-21559000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr22:21558600-21559000	Enhancers	Fetal Muscle Leg	muscle
8	chr22:21559000-21560200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:21559000-21560200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:21560200-21560400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:21560400-21560600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr22:21566000-21569400	Weak transcription	Right Atrium	heart
13	chr22:21569800-21590800	Weak transcription	Gastric	stomach
14	chr22:21570200-21570800	Enhancers	HMEC	breast
15	chr22:21570400-21570600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:21570400-21570800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr22:21570400-21570800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:21576000-21576200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:21576000-21576200	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links