Variant report

Variant	nsv3573
Chromosome Location	chr22:23441543-23485820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1143)
CpG islands
(count:855)
Chromatin interactive
region (count:85)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1143 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23470320-23470325	K562	blood:	n/a	n/a
2	ARID3A	chr22:23484098-23484608	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23470637-23470929	HepG2	liver:	n/a	n/a
4	ATF1	chr22:23446923-23447175	K562	blood:	n/a	n/a
5	ATF1	chr22:23473568-23473599	K562	blood:	n/a	n/a
6	ATF1	chr22:23461696-23462441	K562	blood:	n/a	n/a
7	ATF1	chr22:23474991-23475521	K562	blood:	n/a	n/a
8	ATF1	chr22:23446423-23446625	K562	blood:	n/a	n/a
9	ATF2	chr22:23479972-23480805	GM12878	blood:	n/a	n/a
10	ATF2	chr22:23479985-23480362	GM12878	blood:	n/a	n/a
11	ATF3	chr22:23465812-23466225	K562	blood:	n/a	n/a
12	ATF3	chr22:23453044-23453449	K562	blood:	n/a	n/a
13	ATF3	chr22:23483533-23484709	K562	blood:	n/a	n/a
14	ATF3	chr22:23446218-23446672	K562	blood:	n/a	chr22:23446384-23446398
15	ATF3	chr22:23453134-23454026	K562	blood:	n/a	chr22:23453673-23453686 chr22:23453463-23453483
16	ATF3	chr22:23441552-23442091	K562	blood:	n/a	n/a
17	ATF3	chr22:23483519-23484607	K562	blood:	n/a	n/a
18	ATF3	chr22:23466749-23467297	K562	blood:	n/a	n/a
19	ATF3	chr22:23470012-23470968	K562	blood:	n/a	n/a
20	ATF3	chr22:23474006-23474686	K562	blood:	n/a	n/a
21	ATF3	chr22:23470997-23471670	K562	blood:	n/a	n/a
22	ATF3	chr22:23448059-23448459	K562	blood:	n/a	chr22:23448285-23448294
23	ATF3	chr22:23462045-23462992	K562	blood:	n/a	n/a
24	ATF3	chr22:23463213-23463673	K562	blood:	n/a	n/a
25	ATF3	chr22:23449339-23449865	K562	blood:	n/a	n/a
26	ATF3	chr22:23465265-23465707	K562	blood:	n/a	n/a
27	ATF3	chr22:23443694-23444487	K562	blood:	n/a	n/a
28	BACH1	chr22:23483581-23484532	K562	blood:	n/a	n/a
29	BACH1	chr22:23478063-23478066	K562	blood:	n/a	n/a
30	BACH1	chr22:23442080-23442103	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr22:23485028-23485256	K562	blood:	n/a	n/a
32	BACH1	chr22:23467602-23467763	K562	blood:	n/a	n/a
33	BACH1	chr22:23470551-23470916	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr22:23449705-23450064	K562	blood:	n/a	n/a
35	BATF	chr22:23480495-23480748	GM12878	blood:	n/a	n/a
36	BCL11A	chr22:23480179-23480492	GM12878	blood:	n/a	chr22:23480269-23480278
37	BCLAF1	chr22:23479990-23480558	GM12878	blood:	n/a	chr22:23480269-23480278
38	BHLHE40	chr22:23467898-23468094	K562	blood:	n/a	n/a
39	BHLHE40	chr22:23458253-23458358	K562	blood:	n/a	n/a
40	BHLHE40	chr22:23457130-23457322	K562	blood:	n/a	chr22:23457214-23457223 chr22:23457209-23457230
41	BHLHE40	chr22:23447666-23448556	K562	blood:	n/a	chr22:23448285-23448294 chr22:23448286-23448295 chr22:23448283-23448296 chr22:23448285-23448294 chr22:23448284-23448293 chr22:23448279-23448300
42	BHLHE40	chr22:23469028-23469052	K562	blood:	n/a	n/a
43	BHLHE40	chr22:23442622-23442639	K562	blood:	n/a	n/a
44	BHLHE40	chr22:23470398-23471260	K562	blood:	n/a	n/a
45	BHLHE40	chr22:23449058-23449435	K562	blood:	n/a	n/a
46	BHLHE40	chr22:23461618-23462397	K562	blood:	n/a	n/a
47	BHLHE40	chr22:23484944-23485173	K562	blood:	n/a	n/a
48	BHLHE40	chr22:23459433-23459434	K562	blood:	n/a	n/a
49	BHLHE40	chr22:23483551-23484544	K562	blood:	n/a	n/a
50	BHLHE40	chr22:23484022-23484491	GM12878	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23484598-23484648	SKMC	muscle:	n/a
2	chr22:23484598-23484648	SKMC	muscle:	n/a
3	chr22:23484001-23484051	NB4	blood:	n/a
4	chr22:23484171-23484221	RPTEC	kidney:	n/a
5	chr22:23484500-23484550	HL-60	blood:	n/a
6	chr22:23480087-23480137	NT2-D1	testis:	n/a
7	chr22:23484297-23484347	GM12891	blood:	n/a
8	chr22:23484243-23484293	MCF-7	breast:	n/a
9	chr22:23480087-23480137	SK-N-MC	brain:	n/a
10	chr22:23484600-23484650	SAEC	small airway:	n/a
11	chr22:23484001-23484051	GM06990	blood:	n/a
12	chr22:23484001-23484051	H1-hESC	embryonic stem cell:	embryo
13	chr22:23484171-23484221	AG10803	skin:	n/a
14	chr22:23484297-23484347	SKMC	muscle:	n/a
15	chr22:23484500-23484550	HNPCEpiC	eye:	n/a
16	chr22:23467005-23467055	HRE	kidney:	n/a
17	chr22:23482531-23482581	ECC-1	luminal epithelium:	n/a
18	chr22:23484600-23484650	GM06990	blood:	n/a
19	chr22:23484001-23484051	PrEC	prostate:	n/a
20	chr22:23480087-23480137	AG10803	skin:	n/a
21	chr22:23484243-23484293	GM12878	blood:	n/a
22	chr22:23484001-23484051	Caco-2	colon:	n/a
23	chr22:23484598-23484648	AG04450	lung:	fetal
24	chr22:23484598-23484648	Hepatocyte	liver:	n/a
25	chr22:23484308-23484358	SK-N-MC	brain:	n/a
26	chr22:23484397-23484447	U87	brain:	n/a
27	chr22:23467005-23467055	BJ	skin:	n/a
28	chr22:23484500-23484550	PrEC	prostate:	n/a
29	chr22:23484600-23484650	Jurkat	blood:	n/a
30	chr22:23484598-23484648	PrEC	prostate:	n/a
31	chr22:23482531-23482581	HIPEpiC	eye:	n/a
32	chr22:23484500-23484550	HMEC	breast:	n/a
33	chr22:23484397-23484447	MCF-7	breast:	n/a
34	chr22:23480087-23480137	SAEC	small airway:	n/a
35	chr22:23484297-23484347	GM12878	blood:	n/a
36	chr22:23484397-23484447	AG09319	gingival:	n/a
37	chr22:23480087-23480137	PANC-1	pancreas:	n/a
38	chr22:23484001-23484051	HRE	kidney:	n/a
39	chr22:23484274-23484324	GM19239	blood:	n/a
40	chr22:23484001-23484051	SK-N-MC	brain:	n/a
41	chr22:23467005-23467055	PrEC	prostate:	n/a
42	chr22:23484001-23484051	K562	blood:	n/a
43	chr22:23484171-23484221	K562	blood:	n/a
44	chr22:23484500-23484550	HAEpiC	amniotic membrane:	n/a
45	chr22:23484171-23484221	Jurkat	blood:	n/a
46	chr22:23484241-23484291	NHBE	bronchial:	n/a
47	chr22:23484397-23484447	RPTEC	kidney:	n/a
48	chr22:23484001-23484051	HL-60	blood:	n/a
49	chr22:23484397-23484447	HL-60	blood:	n/a
50	chr22:23480087-23480137	NH-A	brain:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:23425767..23428206-chr22:23439942..23442818,2	MCF-7	breast:
2	chr17:41398816..41402548-chr22:23441414..23444434,6	K562	blood:
3	chr22:23095848..23096686-chr22:23470268..23471285,4	K562	blood:
4	chr22:23441412..23442932-chr3:73158449..73161592,6	MCF-7	breast:
5	chr22:23301286..23302002-chr22:23468660..23469503,2	MCF-7	breast:
6	chr22:23461502..23462491-chr22:23469898..23470845,2	K562	blood:
7	chr22:23300028..23302470-chr22:23469129..23471005,3	K562	blood:
8	chr22:23465678..23467824-chr22:23492176..23494707,2	K562	blood:
9	chr22:23465123..23466826-chr22:23468513..23470224,2	K562	blood:
10	chr22:23448623..23451269-chr8:80913150..80915605,2	MCF-7	breast:
11	chr22:23462252..23463773-chr9:133870229..133873078,2	K562	blood:
12	chr22:23484062..23485814-chr22:23485870..23488963,4	K562	blood:
13	chr11:62608631..62609223-chr22:23442412..23442932,3	MCF-7	breast:
14	chr22:23299971..23302330-chr22:23451052..23453693,2	K562	blood:
15	chr22:23470504..23471287-chr9:133738739..133739577,2	K562	blood:
16	chr22:23441412..23442934-chr3:73158605..73161610,5	MCF-7	breast:
17	chr22:23440648..23443320-chr22:23445760..23448737,2	MCF-7	breast:
18	chr17:41463335..41467200-chr22:23441412..23442934,4	K562	blood:
19	chr17:41381791..41383382-chr22:23441414..23444432,3	MCF-7	breast:
20	chr22:23461434..23463209-chr22:23523024..23524545,2	K562	blood:
21	chr17:41444710..41446469-chr22:23441412..23442932,2	K562	blood:
22	chr22:23461502..23462491-chr22:23469898..23470845,2	K562	blood:
23	chr22:23152190..23153132-chr22:23470308..23471292,3	K562	blood:
24	chr17:41380629..41383453-chr22:23441414..23442934,3	K562	blood:
25	chr22:23141046..23141939-chr22:23470288..23471074,2	K562	blood:
26	chr11:62607633..62610696-chr22:23441412..23442934,3	MCF-7	breast:
27	chr22:23297770..23298924-chr22:23470211..23471441,11	K562	blood:
28	chr11:62608618..62609198-chr22:23442412..23442934,5	Hela-S3	cervix:
29	chr22:23298437..23304383-chr22:23467421..23472642,10	K562	blood:
30	chr11:62607635..62609145-chr22:23441414..23442934,2	MCF-7	breast:
31	chr22:23452087..23454123-chr22:23620144..23622923,2	K562	blood:
32	chr22:23130361..23131337-chr22:23470306..23470892,3	K562	blood:
33	chr22:23470161..23471750-chr22:23485735..23487524,2	K562	blood:
34	chr22:23302491..23304383-chr22:23468441..23470876,3	K562	blood:
35	chr11:62607619..62609155-chr22:23441414..23442934,6	K562	blood:
36	chr22:23301147..23302267-chr22:23472305..23473430,4	K562	blood:
37	chr11:62608623..62609626-chr22:23442412..23442934,9	HCT-116	colon:
38	chr22:23463055..23465071-chr22:23484358..23487240,2	K562	blood:
39	chr22:23300732..23303000-chr22:23470162..23471332,25	MCF-7	breast:
40	chr22:23465123..23466826-chr22:23468513..23470224,2	K562	blood:
41	chr17:41463335..41467702-chr22:23441412..23442934,4	K562	blood:
42	chr22:23450536..23453270-chr22:23482845..23484354,2	K562	blood:
43	chr22:23470450..23471035-chr22:23623962..23624646,2	MCF-7	breast:
44	chr22:23300835..23301624-chr22:23466828..23467398,3	K562	blood:
45	chr22:23442932..23443434-chr3:73160092..73160609,2	MCF-7	breast:
46	chr11:62607619..62610620-chr22:23441412..23442934,5	K562	blood:
47	chr11:62608619..62609155-chr22:23442412..23442932,4	NB4	blood:
48	chr22:23441412..23442932-chr3:73160048..73161604,4	K562	blood:
49	chr22:23197138..23198637-chr22:23470221..23471277,8	K562	blood:
50	chr22:23301279..23302000-chr22:23452266..23453117,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-6	chr22:23474917-23475187	NONHSAT083854

No data

Variant related genes	Relation type
RTDR1	TF binding region
ENSG00000272019	TF binding region
RAB36	TF binding region
GNAZ	TF binding region
ENSG00000221069	TF binding region
RTDR1	CpG island
ENSG00000272019	CpG island
RAB36	CpG island
GNAZ	CpG island
ENSG00000221069	CpG island
ENSG00000223247	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000264629	chromatin interactions
ENSG00000223999	chromatin interactions
ENSG00000211664	chromatin interactions
ENSG00000147586	chromatin interactions
ENSG00000128266	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000100228	chromatin interactions
ENSG00000100084	chromatin interactions
ENSG00000100218	chromatin interactions

Extended variants
information (count: 1709 )
Associated
traits (count: 208 )

Variant overlapped rSNPs/rCNVs (count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114308963	chr22:23441558-23441559	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs530871900	chr22:23441583-23441584	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs559727308	chr22:23441619-23441620	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs181908039	chr22:23441689-23441690	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs184723284	chr22:23441690-23441691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs189122073	chr22:23441726-23441727	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs530929735	chr22:23441748-23441749	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs550951921	chr22:23441752-23441753	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs181668974	chr22:23441778-23441779	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs536712697	chr22:23441783-23441784	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs528493018	chr22:23441843-23441844	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs186467341	chr22:23441880-23441881	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs376978670	chr22:23441881-23441882	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs376142786	chr22:23441891-23441892	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs528504716	chr22:23441894-23441895	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs558625535	chr22:23441950-23441951	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs561170882	chr22:23441981-23441982	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs541809512	chr22:23442012-23442013	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs537464762	chr22:23442077-23442078	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs554116516	chr22:23442088-23442089	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs574073699	chr22:23442106-23442107	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs191344467	chr22:23442148-23442149	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs546472013	chr22:23442181-23442182	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs73384375	chr22:23442202-23442203	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529974236	chr22:23442203-23442204	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs545538695	chr22:23442241-23442242	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs565446394	chr22:23442252-23442253	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs531193060	chr22:23442269-23442270	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs181021670	chr22:23442270-23442271	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs200852509	chr22:23442284-23442285	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs185048873	chr22:23442324-23442325	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs73384377	chr22:23442332-23442333	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546818335	chr22:23442372-23442373	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs146923678	chr22:23442452-23442453	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs113500790	chr22:23442482-23442483	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs532216402	chr22:23442488-23442489	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs552315645	chr22:23442619-23442620	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs147569934	chr22:23442669-23442670	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs73878646	chr22:23442691-23442692	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs112613956	chr22:23442709-23442710	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs9608074	chr22:23442715-23442716	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs9624026	chr22:23442718-23442719	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs554431124	chr22:23442744-23442745	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs142048561	chr22:23442752-23442753	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs533783686	chr22:23442793-23442794	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs553592143	chr22:23442814-23442815	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs374983745	chr22:23442828-23442829	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs531992512	chr22:23442843-23442844	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs576829842	chr22:23442850-23442851	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs545284674	chr22:23442854-23442855	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:208)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic endocrine tumor	17639061	CNVD

Chromatin state (count:1227 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23416000-23452800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:23427800-23447600	Weak transcription	Fetal Intestine Small	intestine
3	chr22:23430600-23448600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:23431000-23444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:23431400-23444400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:23431600-23442000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:23433600-23442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:23433600-23454400	Weak transcription	Primary B cells from cord blood	blood
9	chr22:23437600-23458000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:23438400-23441800	Strong transcription	HepG2	liver
11	chr22:23438400-23443600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:23438600-23452600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:23438600-23461800	Enhancers	Brain Substantia Nigra	brain
14	chr22:23438800-23443200	Enhancers	Brain Hippocampus Middle	brain
15	chr22:23438800-23446400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr22:23439000-23442200	Genic enhancers	Brain Germinal Matrix	brain
17	chr22:23439000-23443200	Enhancers	Brain Anterior Caudate	brain
18	chr22:23439000-23446800	Enhancers	Brain Cingulate Gyrus	brain
19	chr22:23439000-23470400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:23439200-23444800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:23439600-23445400	Enhancers	Fetal Muscle Leg	muscle
22	chr22:23439600-23445800	Enhancers	Spleen	Spleen
23	chr22:23439800-23442200	Enhancers	Adipose Nuclei	Adipose
24	chr22:23439800-23442200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr22:23439800-23442600	Enhancers	Pancreas	Pancrea
26	chr22:23439800-23443600	Enhancers	Stomach Mucosa	stomach
27	chr22:23439800-23449600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:23439800-23462000	Enhancers	Brain Angular Gyrus	brain
29	chr22:23440000-23442000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr22:23440000-23442400	Enhancers	Right Ventricle	heart
31	chr22:23440000-23442800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr22:23440200-23441800	Enhancers	Esophagus	oesophagus
33	chr22:23440200-23441800	Enhancers	Fetal Brain Male	brain
34	chr22:23440200-23441800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr22:23440200-23445400	Enhancers	Gastric	stomach
36	chr22:23440400-23441800	Enhancers	Colon Smooth Muscle	Colon
37	chr22:23440400-23441800	Genic enhancers	Fetal Stomach	stomach
38	chr22:23440400-23441800	Enhancers	HSMMtube	muscle
39	chr22:23440400-23442400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr22:23440400-23442600	Enhancers	Psoas Muscle	Psoas
41	chr22:23440400-23442800	Enhancers	Left Ventricle	heart
42	chr22:23440400-23443000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr22:23440600-23441600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:23440600-23441600	Enhancers	Duodenum Mucosa	Duodenum
45	chr22:23440600-23441800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr22:23440600-23441800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr22:23440600-23442000	Enhancers	Rectal Smooth Muscle	rectum
48	chr22:23440600-23442800	Genic enhancers	Right Atrium	heart
49	chr22:23440800-23441600	Enhancers	Fetal Brain Female	brain
50	chr22:23440800-23442000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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