Variant report

Variant	nsv1057910
Chromosome Location	chr22:23704457-23750847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1085)
CpG islands
(count:856)
Chromatin interactive
region (count:27)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1085 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr22:23718553-23718782	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr22:23718470-23718848	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr22:23718506-23718740	K562	blood:	n/a	n/a
4	ATF3	chr22:23718462-23718758	GM12878	blood:	n/a	n/a
5	ATF3	chr22:23718535-23718743	GM12878	blood:	n/a	n/a
6	BACH1	chr22:23746888-23747212	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr22:23744648-23745063	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr22:23744217-23744314	K562	blood:	n/a	n/a
9	BHLHE40	chr22:23728117-23728404	GM12878	blood:	n/a	n/a
10	BHLHE40	chr22:23744958-23745145	GM12878	blood:	n/a	chr22:23745054-23745070
11	BHLHE40	chr22:23745003-23745056	K562	blood:	n/a	n/a
12	BRCA1	chr22:23728177-23728379	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr22:23718548-23718654	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr22:23723452-23723532	GM12878	blood:	n/a	n/a
15	CCNT2	chr22:23744248-23744361	K562	blood:	n/a	chr22:23744349-23744358
16	CCNT2	chr22:23744595-23745201	K562	blood:	n/a	n/a
17	CEBPB	chr22:23717656-23718005	HepG2	liver:	n/a	chr22:23717816-23717827 chr22:23717825-23717836
18	CEBPB	chr22:23718580-23718582	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr22:23743400-23743695	IMR90	lung:	n/a	n/a
20	CEBPB	chr22:23717749-23717949	A549	lung:	n/a	chr22:23717816-23717827 chr22:23717825-23717836
21	CEBPB	chr22:23709466-23709710	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr22:23711021-23711099	H1-hESC	embryonic stem cell:	n/a	chr22:23711052-23711063
23	CEBPB	chr22:23717811-23717838	H1-hESC	embryonic stem cell:	n/a	chr22:23717816-23717827 chr22:23717825-23717836
24	CEBPB	chr22:23710890-23711233	HepG2	liver:	n/a	chr22:23711052-23711063
25	CEBPB	chr22:23710923-23711241	Hela-S3	cervix:	n/a	chr22:23711052-23711063
26	CHD2	chr22:23728187-23728423	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr22:23718504-23718765	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr22:23747083-23747102	HepG2	liver:	n/a	n/a
29	CHD2	chr22:23744988-23745147	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr22:23728125-23728366	GM12878	blood:	n/a	n/a
31	CHD2	chr22:23728114-23728387	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr22:23728057-23728438	A549	lung:	n/a	n/a
33	CREB1	chr22:23744835-23745161	A549	lung:	n/a	n/a
34	CTBP2	chr22:23744287-23745184	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr22:23718560-23718710	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr22:23718560-23718710	HEK293	kidney:	n/a	n/a
37	CTCF	chr22:23745280-23745430	GM12867	blood:	n/a	n/a
38	CTCF	chr22:23728067-23728436	NHEK	skin:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
39	CTCF	chr22:23744980-23745130	HMEC	breast:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
40	CTCF	chr22:23728087-23728450	GM12878	blood:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
41	CTCF	chr22:23727600-23727750	BE2_C	brain:	n/a	n/a
42	CTCF	chr22:23726720-23726870	GM12873	blood:	n/a	n/a
43	CTCF	chr22:23744890-23745152	MCF-7	breast:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
44	CTCF	chr22:23718640-23718790	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr22:23745140-23745290	GM12872	blood:	n/a	n/a
46	CTCF	chr22:23705062-23705131	GM13976	blood:	n/a	n/a
47	CTCF	chr22:23718537-23718738	A549	lung:	n/a	n/a
48	CTCF	chr22:23728078-23728418	K562	blood:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
49	CTCF	chr22:23728082-23728433	MCF-7	breast:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
50	CTCF	chr22:23718560-23718710	AG04449	skin:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23730283-23730333	HIPEpiC	eye:	n/a
2	chr22:23730507-23730557	HCPEpiC	choroid plexus:	n/a
3	chr22:23730283-23730333	HIPEpiC	eye:	n/a
4	chr22:23730507-23730557	HCPEpiC	choroid plexus:	n/a
5	chr22:23744094-23744144	HRPEpiC	eye:	n/a
6	chr22:23729011-23729061	MCF-7	breast:	n/a
7	chr22:23730507-23730557	HAEpiC	amniotic membrane:	n/a
8	chr22:23745389-23745439	CMK	blood:	n/a
9	chr22:23745389-23745439	K562	blood:	n/a
10	chr22:23730283-23730333	BE2_C	brain:	n/a
11	chr22:23745131-23745181	MCF-7	breast:	n/a
12	chr22:23744094-23744144	SKMC	muscle:	n/a
13	chr22:23730283-23730333	PrEC	prostate:	n/a
14	chr22:23744717-23744767	GM12878	blood:	n/a
15	chr22:23730507-23730557	GM12892	blood:	n/a
16	chr22:23745076-23745126	AG10803	skin:	n/a
17	chr22:23730507-23730557	U87	brain:	n/a
18	chr22:23732191-23732241	HRE	kidney:	n/a
19	chr22:23745389-23745439	GM12878	blood:	n/a
20	chr22:23745389-23745439	AoSMC	blood vessel:	n/a
21	chr22:23730507-23730557	SAEC	small airway:	n/a
22	chr22:23728539-23728589	HCT-116	colon:	n/a
23	chr22:23733812-23733862	PFSK-1	brain:	n/a
24	chr22:23730507-23730557	A549	lung:	n/a
25	chr22:23744725-23744775	MCF-7	breast:	n/a
26	chr22:23732191-23732241	H1-hESC	embryonic stem cell:	embryo
27	chr22:23744094-23744144	AG10803	skin:	n/a
28	chr22:23745076-23745126	AG04450	lung:	fetal
29	chr22:23730283-23730333	H1-hESC	embryonic stem cell:	embryo
30	chr22:23744717-23744767	HIPEpiC	eye:	n/a
31	chr22:23728539-23728589	NHDF-neo	bronchial:	n/a
32	chr22:23733812-23733862	H1-hESC	embryonic stem cell:	embryo
33	chr22:23745076-23745126	HAEpiC	amniotic membrane:	n/a
34	chr22:23744094-23744144	HepG2	liver:	n/a
35	chr22:23745076-23745126	NT2-D1	testis:	n/a
36	chr22:23727927-23727977	CMK	blood:	n/a
37	chr22:23730507-23730557	AG04450	lung:	fetal
38	chr22:23730283-23730333	NH-A	brain:	n/a
39	chr22:23733812-23733862	ovcar-3	ovarian:	n/a
40	chr22:23744928-23744978	GM12891	blood:	n/a
41	chr22:23744717-23744767	HNPCEpiC	eye:	n/a
42	chr22:23745131-23745181	H1-hESC	embryonic stem cell:	embryo
43	chr22:23745076-23745126	HUVEC	blood vessel:	n/a
44	chr22:23729011-23729061	Jurkat	blood:	n/a
45	chr22:23745131-23745181	HAEpiC	amniotic membrane:	n/a
46	chr22:23744725-23744775	Hela-S3	cervix:	n/a
47	chr22:23744094-23744144	HRCEpiC	kidney:	n/a
48	chr22:23733812-23733862	NHBE	bronchial:	n/a
49	chr22:23744094-23744144	HAEpiC	amniotic membrane:	n/a
50	chr22:23745076-23745126	PANC-1	pancreas:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:20255641..20256294-chr22:23744242..23744784,3	Hela-S3	cervix:
2	chr22:20255134..20257109-chr22:23743239..23744767,3	MCF-7	breast:
3	chr22:23657499..23658384-chr22:23727787..23728714,3	MCF-7	breast:
4	chr22:23713708..23715595-chr22:23719282..23721886,2	K562	blood:
5	chr22:23664524..23665241-chr22:23727504..23728710,4	MCF-7	breast:
6	chr22:23301211..23301928-chr22:23727836..23728728,3	MCF-7	breast:
7	chr22:20255195..20256295-chr22:23744242..23744859,6	MCF-7	breast:
8	chr22:20255172..20256299-chr22:23744215..23745345,10	MCF-7	breast:
9	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
10	chr22:23656155..23656793-chr22:23727780..23728604,2	MCF-7	breast:
11	chr22:23302255..23302789-chr22:23727921..23728846,2	MCF-7	breast:
12	chr22:23728174..23728812-chr22:23881510..23882034,2	K562	blood:
13	chr22:20255429..20256076-chr22:23744719..23745345,6	K562	blood:
14	chr22:20255606..20257319-chr22:23743223..23746226,3	K562	blood:
15	chr22:20255317..20256206-chr22:23744235..23745365,12	HCT-116	colon:
16	chr22:23713708..23715595-chr22:23719282..23721886,2	K562	blood:
17	chr22:23696355..23697873-chr22:23707561..23710037,2	MCF-7	breast:
18	chr22:23657846..23658387-chr22:23727772..23728507,2	K562	blood:
19	chr22:23733508..23735532-chr22:23736840..23739183,2	MCF-7	breast:
20	chr22:23301153..23301965-chr22:23727829..23728713,3	K562	blood:
21	chr22:23745391..23747934-chr22:23759747..23762327,2	MCF-7	breast:
22	chr22:23705328..23706086-chr22:23727709..23728285,2	MCF-7	breast:
23	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
24	chr22:23705328..23706086-chr22:23727709..23728285,2	MCF-7	breast:
25	chr22:23301210..23302026-chr22:23727802..23728448,2	MCF-7	breast:
26	chr22:20255555..20256232-chr22:23744733..23745268,3	MCF-7	breast:
27	chr22:20253259..20257319-chr22:23743216..23746275,4	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCR-3	chr22:23723434-23723530	NONHSAT083879
2	lnc-IGLL1-4	chr22:23734772-23735020	NONHSAT083882
3	lnc-IGLL1-4	chr22:23734914-23735064	NONHSAT083880
4	lnc-IGLL1-4	chr22:23736113-23736244	NONHSAT083882
5	lnc-IGLL1-4	chr22:23740265-23740293	NONHSAT083882
6	lnc-IGLL1-4	chr22:23732833-23733911	NONHSAT083880
7	lnc-IGLL1-4	chr22:23741771-23741795	NONHSAT083882
8	lnc-BCR-3	chr22:23723132-23723248	NONHSAT083879

No data

Variant related genes	Relation type
CES5AP1	TF binding region
ZDHHC8P1	TF binding region
ENSG00000248409	TF binding region
CES5AP1	CpG island
ZDHHC8P1	CpG island
ENSG00000248409	CpG island
ENSG00000248409	chromatin interactions
ENSG00000214526	chromatin interactions
ENSG00000040608	chromatin interactions

Extended variants
information (count: 2231 )
Associated
traits (count: 211 )

Variant overlapped rSNPs/rCNVs (count:2231 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12484033	chr22:23705439-23705440	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555329621	chr22:23705482-23705483	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs572126093	chr22:23705487-23705488	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs540901500	chr22:23705494-23705495	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs57904427	chr22:23705605-23705606	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532919512	chr22:23705625-23705626	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs543591917	chr22:23705650-23705651	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs58637178	chr22:23705671-23705672	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528961438	chr22:23705680-23705681	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs180749359	chr22:23705698-23705699	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs553641065	chr22:23705731-23705732	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs186135260	chr22:23705748-23705749	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs189391953	chr22:23705816-23705817	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs375074144	chr22:23705826-23705827	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs114947888	chr22:23705834-23705835	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs5759744	chr22:23705837-23705838	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs181197943	chr22:23705840-23705841	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs577483782	chr22:23705850-23705851	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs73878688	chr22:23705873-23705874	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542437530	chr22:23705899-23705900	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs150571118	chr22:23705914-23705915	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs570191463	chr22:23705916-23705917	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs535913036	chr22:23705939-23705940	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs73878689	chr22:23705941-23705942	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs199962725	chr22:23705951-23705952	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs528427882	chr22:23705980-23705981	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs73878690	chr22:23706011-23706012	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369254757	chr22:23706012-23706013	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs73878691	chr22:23706020-23706021	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs73878692	chr22:23706021-23706022	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139556659	chr22:23706142-23706143	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs542714820	chr22:23706195-23706196	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs546450843	chr22:23706197-23706198	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs117926447	chr22:23706254-23706255	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs528237143	chr22:23706259-23706260	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs551393867	chr22:23706345-23706346	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs571292663	chr22:23706370-23706371	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs564834293	chr22:23707830-23707831	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs575138551	chr22:23707870-23707871	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs74503371	chr22:23707882-23707883	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs560983896	chr22:23707883-23707884	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs12159341	chr22:23707890-23707891	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12484479	chr22:23707894-23707895	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116998937	chr22:23707929-23707930	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs533851373	chr22:23707937-23707938	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs6003660	chr22:23707938-23707939	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182621425	chr22:23707941-23707942	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs34711044	chr22:23707973-23707974	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs571658370	chr22:23707988-23707989	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs531080899	chr22:23707991-23707992	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:211)

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
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
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	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
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
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Li-fraumeni syndrome	18685109	CNVD
Breast cancer	20409316	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	19424424	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23705400-23706200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:23705600-23706200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:23705800-23706400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr22:23707800-23710000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr22:23708000-23708200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:23708200-23708400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr22:23708200-23708400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr22:23708200-23708800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:23708200-23709600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr22:23708200-23710000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:23708800-23728200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:23709000-23709200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr22:23709000-23710200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr22:23709200-23709400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr22:23709200-23710400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr22:23709600-23709800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr22:23709600-23709800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr22:23709800-23710200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr22:23709800-23710200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:23709800-23710600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr22:23709800-23710600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr22:23710000-23710200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr22:23710000-23710400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr22:23710000-23710400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr22:23710000-23712000	Enhancers	Placenta	Placenta
26	chr22:23710200-23710600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr22:23711000-23711400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:23711200-23711600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr22:23712000-23717400	Weak transcription	Placenta	Placenta
30	chr22:23712400-23712600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr22:23712400-23712600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr22:23712600-23712800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:23716400-23717000	Enhancers	Fetal Stomach	stomach
34	chr22:23717400-23718800	Enhancers	Placenta	Placenta
35	chr22:23718400-23718600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr22:23718400-23718800	Enhancers	Fetal Thymus	thymus
37	chr22:23719800-23723200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:23722000-23725800	Weak transcription	Spleen	Spleen
39	chr22:23722400-23722600	Enhancers	Placenta	Placenta
40	chr22:23722400-23724600	Enhancers	Gastric	stomach
41	chr22:23722600-23723800	Weak transcription	Placenta	Placenta
42	chr22:23723200-23723600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:23723600-23724200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:23723800-23724400	Enhancers	Placenta	Placenta
45	chr22:23723800-23728600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:23724200-23724400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:23724200-23724400	Enhancers	Ovary	ovary
48	chr22:23724400-23725000	Weak transcription	Ovary	ovary
49	chr22:23724400-23726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:23724600-23725000	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links