Variant report

Variant	esv1825944
Chromosome Location	chr22:23414398-23473840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1331)
CpG islands
(count:611)
Chromatin interactive
region (count:106)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1331 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23414415-23414594	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23417805-23418528	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23421574-23421863	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:23470637-23470929	HepG2	liver:	n/a	n/a
5	ARID3A	chr22:23470320-23470325	K562	blood:	n/a	n/a
6	ATF1	chr22:23473568-23473599	K562	blood:	n/a	n/a
7	ATF1	chr22:23446923-23447175	K562	blood:	n/a	n/a
8	ATF1	chr22:23428923-23429344	K562	blood:	n/a	n/a
9	ATF1	chr22:23422094-23422550	K562	blood:	n/a	n/a
10	ATF1	chr22:23461696-23462441	K562	blood:	n/a	n/a
11	ATF1	chr22:23433445-23433945	K562	blood:	n/a	n/a
12	ATF1	chr22:23429744-23429944	K562	blood:	n/a	n/a
13	ATF1	chr22:23446423-23446625	K562	blood:	n/a	n/a
14	ATF3	chr22:23462045-23462992	K562	blood:	n/a	n/a
15	ATF3	chr22:23453044-23453449	K562	blood:	n/a	n/a
16	ATF3	chr22:23428511-23429349	K562	blood:	n/a	n/a
17	ATF3	chr22:23466749-23467297	K562	blood:	n/a	n/a
18	ATF3	chr22:23470012-23470968	K562	blood:	n/a	n/a
19	ATF3	chr22:23449339-23449865	K562	blood:	n/a	n/a
20	ATF3	chr22:23446218-23446672	K562	blood:	n/a	chr22:23446384-23446398
21	ATF3	chr22:23448059-23448459	K562	blood:	n/a	chr22:23448285-23448294
22	ATF3	chr22:23465265-23465707	K562	blood:	n/a	n/a
23	ATF3	chr22:23470997-23471670	K562	blood:	n/a	n/a
24	ATF3	chr22:23465812-23466225	K562	blood:	n/a	n/a
25	ATF3	chr22:23431299-23431785	K562	blood:	n/a	n/a
26	ATF3	chr22:23453134-23454026	K562	blood:	n/a	chr22:23453673-23453686 chr22:23453463-23453483
27	ATF3	chr22:23417883-23418245	HepG2	liver:	n/a	n/a
28	ATF3	chr22:23441552-23442091	K562	blood:	n/a	n/a
29	ATF3	chr22:23443694-23444487	K562	blood:	n/a	n/a
30	ATF3	chr22:23419725-23420270	K562	blood:	n/a	n/a
31	ATF3	chr22:23463213-23463673	K562	blood:	n/a	n/a
32	BACH1	chr22:23442080-23442103	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr22:23449705-23450064	K562	blood:	n/a	n/a
34	BACH1	chr22:23430475-23430950	H1-hESC	embryonic stem cell:	n/a	chr22:23430710-23430724
35	BACH1	chr22:23467602-23467763	K562	blood:	n/a	n/a
36	BACH1	chr22:23470551-23470916	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr22:23428933-23429363	K562	blood:	n/a	n/a
38	BACH1	chr22:23430594-23430815	K562	blood:	n/a	chr22:23430710-23430724
39	BHLHE40	chr22:23428737-23429499	K562	blood:	n/a	n/a
40	BHLHE40	chr22:23438192-23438363	K562	blood:	n/a	n/a
41	BHLHE40	chr22:23430460-23430825	K562	blood:	n/a	chr22:23430645-23430661
42	BHLHE40	chr22:23449058-23449435	K562	blood:	n/a	n/a
43	BHLHE40	chr22:23459433-23459434	K562	blood:	n/a	n/a
44	BHLHE40	chr22:23419752-23419754	K562	blood:	n/a	n/a
45	BHLHE40	chr22:23414411-23414811	K562	blood:	n/a	n/a
46	BHLHE40	chr22:23469028-23469052	K562	blood:	n/a	n/a
47	BHLHE40	chr22:23422521-23422593	K562	blood:	n/a	n/a
48	BHLHE40	chr22:23441124-23441137	K562	blood:	n/a	n/a
49	BHLHE40	chr22:23440320-23440672	K562	blood:	n/a	n/a
50	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

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23438059-23438109	Hepatocyte	liver:	n/a
2	chr22:23438059-23438109	Hepatocyte	liver:	n/a
3	chr22:23415316-23415366	Hepatocyte	liver:	n/a
4	chr22:23415316-23415366	Caco-2	colon:	n/a
5	chr22:23437461-23437511	HepG2	liver:	n/a
6	chr22:23437461-23437511	AG04449	skin:	fetal
7	chr22:23441402-23441452	HepG2	liver:	n/a
8	chr22:23438059-23438109	T-47D	breast:	n/a
9	chr22:23467005-23467055	HEEpiC	esophagus:	n/a
10	chr22:23467005-23467055	IMR90	lung:	fetal
11	chr22:23438507-23438557	H1-hESC	embryonic stem cell:	embryo
12	chr22:23438430-23438480	HMEC	breast:	n/a
13	chr22:23415915-23415965	GM19239	blood:	n/a
14	chr22:23435458-23435508	RPTEC	kidney:	n/a
15	chr22:23438507-23438557	Hela-S3	cervix:	n/a
16	chr22:23467005-23467055	GM06990	blood:	n/a
17	chr22:23415915-23415965	T-47D	breast:	n/a
18	chr22:23415316-23415366	HMEC	breast:	n/a
19	chr22:23415915-23415965	HCF	heart:	n/a
20	chr22:23441402-23441452	NH-A	brain:	n/a
21	chr22:23437461-23437511	Caco-2	colon:	n/a
22	chr22:23438116-23438166	Caco-2	colon:	n/a
23	chr22:23438059-23438109	BJ	skin:	n/a
24	chr22:23435458-23435508	HRE	kidney:	n/a
25	chr22:23438116-23438166	PrEC	prostate:	n/a
26	chr22:23438059-23438109	ECC-1	luminal epithelium:	n/a
27	chr22:23435458-23435508	IMR90	lung:	fetal
28	chr22:23415915-23415965	Hela-S3	cervix:	n/a
29	chr22:23467005-23467055	ProgFib	skin:	n/a
30	chr22:23467005-23467055	PANC-1	pancreas:	n/a
31	chr22:23438507-23438557	HCF	heart:	n/a
32	chr22:23438507-23438557	GM06990	blood:	n/a
33	chr22:23437461-23437511	HCM	heart:	n/a
34	chr22:23441402-23441452	HEEpiC	esophagus:	n/a
35	chr22:23435458-23435508	HPAEpiC	pulmonary alveolar:	n/a
36	chr22:23467005-23467055	PrEC	prostate:	n/a
37	chr22:23438116-23438166	H1-hESC	embryonic stem cell:	embryo
38	chr22:23435458-23435508	GM12878	blood:	n/a
39	chr22:23415915-23415965	HCPEpiC	choroid plexus:	n/a
40	chr22:23441402-23441452	PrEC	prostate:	n/a
41	chr22:23438507-23438557	K562	blood:	n/a
42	chr22:23441402-23441452	HPAEpiC	pulmonary alveolar:	n/a
43	chr22:23438430-23438480	NHBE	bronchial:	n/a
44	chr22:23438059-23438109	HUVEC	blood vessel:	n/a
45	chr22:23467005-23467055	ovcar-3	ovarian:	n/a
46	chr22:23438059-23438109	NHBE	bronchial:	n/a
47	chr22:23437461-23437511	HRCEpiC	kidney:	n/a
48	chr22:23438059-23438109	Jurkat	blood:	n/a
49	chr22:23441402-23441452	SAEC	small airway:	n/a
50	chr22:23437461-23437511	HCPEpiC	choroid plexus:	n/a

(count:106 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:62608619..62609155-chr22:23442412..23442932,4	NB4	blood:
2	chr22:23144551..23145511-chr22:23470374..23471293,4	K562	blood:
3	chr22:23035129..23035915-chr22:23470325..23471117,3	K562	blood:
4	chr22:23470319..23471746-chr22:23623633..23624628,4	K562	blood:
5	chr22:23455386..23456886-chr22:24025286..24027677,2	K562	blood:
6	chr22:23461434..23464409-chr22:23522525..23524786,4	K562	blood:
7	chr22:23465123..23466826-chr22:23468513..23470224,2	K562	blood:
8	chr22:23461502..23462491-chr22:23469898..23470845,2	K562	blood:
9	chr22:23298437..23304383-chr22:23467421..23472642,10	K562	blood:
10	chr11:62608624..62609220-chr22:23442412..23442934,5	MCF-7	breast:
11	chr17:41398816..41402548-chr22:23441414..23444434,6	K562	blood:
12	chr17:41444710..41446469-chr22:23441412..23442932,2	K562	blood:
13	chr22:23301147..23302267-chr22:23472305..23473430,4	K562	blood:
14	chr22:23440648..23443320-chr22:23445760..23448737,2	MCF-7	breast:
15	chr22:19418950..19420897-chr22:23461567..23463431,2	K562	blood:
16	chr22:23416844..23419763-chr22:23421537..23423380,2	MCF-7	breast:
17	chr22:23461434..23463209-chr22:23523024..23524545,2	K562	blood:
18	chr22:23197138..23198637-chr22:23470221..23471277,8	K562	blood:
19	chr22:23442412..23443434-chr3:73159932..73160609,5	HCT-116	colon:
20	chr22:23450536..23453270-chr22:23482845..23484354,2	K562	blood:
21	chr17:41463335..41467702-chr22:23441412..23442934,4	K562	blood:
22	chr22:23426024..23426653-chr22:23437564..23438367,2	K562	blood:
23	chr17:41380629..41383453-chr22:23441414..23442934,3	K562	blood:
24	chr22:23301407..23302031-chr22:23455093..23455815,2	K562	blood:
25	chr22:23208036..23209555-chr22:23429029..23430734,2	K562	blood:
26	chr11:62607619..62609155-chr22:23441414..23442934,6	K562	blood:
27	chr22:23470561..23472546-chr22:23479577..23481935,3	K562	blood:
28	chr22:23190238..23191197-chr22:23470317..23471306,10	K562	blood:
29	chr22:23145494..23147180-chr22:23431987..23434426,2	K562	blood:
30	chr22:23463055..23465071-chr22:23484358..23487240,2	K562	blood:
31	chr22:23301109..23301947-chr22:23468669..23469381,3	MCF-7	breast:
32	chr22:23433414..23435124-chr22:23436092..23438297,2	MCF-7	breast:
33	chr22:23324602..23327357-chr22:23427620..23429535,2	K562	blood:
34	chr22:23470325..23471074-chr9:133873384..133874131,3	K562	blood:
35	chr22:23441414..23444412-chr3:73159069..73160589,2	K562	blood:
36	chr22:23442914..23443432-chr5:140453591..140454111,2	Hela-S3	cervix:
37	chr22:23470161..23471750-chr22:23485735..23487524,2	K562	blood:
38	chr17:41398950..41401960-chr22:23441412..23444434,7	K562	blood:
39	chr17:41380296..41383453-chr22:23441412..23444412,4	K562	blood:
40	chr22:23448623..23451269-chr8:80913150..80915605,2	MCF-7	breast:
41	chr22:23452087..23454123-chr22:23620144..23622923,2	K562	blood:
42	chr22:23412008..23413787-chr22:23467964..23470868,2	K562	blood:
43	chr22:23441412..23442932-chr3:73158449..73161592,6	MCF-7	breast:
44	chr22:23301062..23301649-chr22:23419776..23420411,2	MCF-7	breast:
45	chr22:23410097..23412761-chr22:23419396..23421596,3	MCF-7	breast:
46	chr22:23095848..23096686-chr22:23470268..23471285,4	K562	blood:
47	chr22:23440648..23443320-chr22:23445760..23448737,2	MCF-7	breast:
48	chr22:23300239..23302916-chr22:23468459..23471796,133	K562	blood:
49	chr22:23442414..23442932-chr9:135931462..135931982,2	HCT-116	colon:
50	chr22:23300028..23302470-chr22:23469129..23471005,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB36-1	chr22:23437434-23437903	NONHSAT083846

No data

Variant related genes	Relation type
ENSG00000221069	TF binding region
GNAZ	TF binding region
ENSG00000221069	CpG island
GNAZ	CpG island
ENSG00000223247	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000211664	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000100218	chromatin interactions
ENSG00000147586	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000264629	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000223999	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000128266	chromatin interactions
ENSG00000100228	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000100084	chromatin interactions

Extended variants
information (count: 2329 )
Associated
traits (count: 211 )

Variant overlapped rSNPs/rCNVs (count:2329 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556607046	chr22:23414489-23414490	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190670548	chr22:23414490-23414491	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563946302	chr22:23414511-23414512	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552034149	chr22:23414564-23414565	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577530946	chr22:23414613-23414614	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182905204	chr22:23414614-23414615	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563426887	chr22:23414634-23414635	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528995715	chr22:23414660-23414661	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548840247	chr22:23414666-23414667	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34138806	chr22:23414679-23414680	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562226185	chr22:23414684-23414685	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377113620	chr22:23414757-23414758	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538066400	chr22:23414821-23414822	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543337240	chr22:23414929-23414930	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554695110	chr22:23414945-23414946	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555849303	chr22:23414976-23414977	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185785859	chr22:23415058-23415059	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549901545	chr22:23415075-23415076	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149550759	chr22:23415083-23415084	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535512780	chr22:23415128-23415129	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555145357	chr22:23415137-23415138	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs5759577	chr22:23415146-23415147	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190157845	chr22:23415152-23415153	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558065609	chr22:23415184-23415185	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534187337	chr22:23415191-23415192	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144239255	chr22:23415246-23415247	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543453466	chr22:23415252-23415253	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556673869	chr22:23415290-23415291	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573790046	chr22:23415327-23415328	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182733172	chr22:23415331-23415332	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562292189	chr22:23415367-23415368	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187855475	chr22:23415380-23415381	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541252110	chr22:23415395-23415396	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148736022	chr22:23415407-23415408	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564844556	chr22:23415489-23415490	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554026915	chr22:23415550-23415551	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs5996462	chr22:23415566-23415567	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533446716	chr22:23415582-23415583	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147188685	chr22:23415586-23415587	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569902213	chr22:23415612-23415613	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs192151701	chr22:23415620-23415621	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs549030252	chr22:23415631-23415632	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs184094863	chr22:23415661-23415662	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs534537556	chr22:23415710-23415711	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs7292975	chr22:23415783-23415784	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs577194263	chr22:23415793-23415794	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs536907854	chr22:23415796-23415797	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs556922030	chr22:23415803-23415804	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79458834	chr22:23415816-23415817	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187619350	chr22:23415844-23415845	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	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
Developmental delay	21147756	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1149 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23412800-23414400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr22:23412800-23416200	Bivalent Enhancer	Placenta	Placenta
3	chr22:23413200-23420600	Weak transcription	Liver	Liver
4	chr22:23413400-23414400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:23413400-23414600	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr22:23413400-23414600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr22:23413400-23414800	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr22:23413400-23414800	Weak transcription	HMEC	breast
9	chr22:23413400-23416000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr22:23413600-23414400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:23413600-23414400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
12	chr22:23413600-23414400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:23413600-23414400	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr22:23413600-23414400	Enhancers	Right Ventricle	heart
15	chr22:23413600-23414600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:23413600-23414600	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr22:23413600-23414800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:23413600-23415200	Flanking Active TSS	Fetal Brain Female	brain
19	chr22:23413600-23415200	Enhancers	Gastric	stomach
20	chr22:23413600-23415600	Enhancers	NH-A	brain
21	chr22:23413600-23416600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr22:23413600-23430400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:23413600-23440600	Strong transcription	Right Atrium	heart
24	chr22:23413800-23414400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr22:23413800-23414400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr22:23413800-23414400	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr22:23413800-23414600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr22:23413800-23414600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:23413800-23414600	Enhancers	Colon Smooth Muscle	Colon
30	chr22:23413800-23414600	Flanking Active TSS	HepG2	liver
31	chr22:23413800-23414800	Enhancers	Primary B cells from cord blood	blood
32	chr22:23413800-23414800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:23413800-23414800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr22:23413800-23415000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr22:23413800-23415400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:23413800-23422000	Weak transcription	HSMMtube	muscle
37	chr22:23414000-23414400	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr22:23414000-23414400	Bivalent Enhancer	Fetal Stomach	stomach
39	chr22:23414000-23414400	Active TSS	Hela-S3	cervix
40	chr22:23414000-23414600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:23414000-23415000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr22:23414000-23415400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr22:23414000-23415400	Enhancers	HSMM	muscle
44	chr22:23414000-23415600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr22:23414000-23418000	Weak transcription	Esophagus	oesophagus
46	chr22:23414000-23420200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr22:23414000-23420800	Weak transcription	Ovary	ovary
48	chr22:23414200-23414400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:23414200-23414400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr22:23414200-23414400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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