Variant report

Variant	nsv1063134
Chromosome Location	chr22:22067645-22129322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1958)
CpG islands
(count:978)
Chromatin interactive
region (count:199)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1958 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22108775-22110663	K562	blood:	n/a	n/a
2	ARID3A	chr22:22089256-22089896	K562	blood:	n/a	n/a
3	ARID3A	chr22:22069168-22069324	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:22067398-22067835	HepG2	liver:	n/a	n/a
5	ARID3A	chr22:22067114-22067905	K562	blood:	n/a	n/a
6	ARID3A	chr22:22090153-22090405	K562	blood:	n/a	n/a
7	ATF1	chr22:22114936-22115664	K562	blood:	n/a	n/a
8	ATF1	chr22:22108776-22109714	K562	blood:	n/a	n/a
9	ATF1	chr22:22069140-22069441	K562	blood:	n/a	n/a
10	ATF1	chr22:22067177-22067910	K562	blood:	n/a	n/a
11	ATF1	chr22:22110058-22110480	K562	blood:	n/a	n/a
12	ATF2	chr22:22090399-22090648	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr22:22116919-22117833	GM12878	blood:	n/a	n/a
14	ATF2	chr22:22121195-22121792	GM12878	blood:	n/a	n/a
15	ATF2	chr22:22110187-22110755	GM12878	blood:	n/a	n/a
16	ATF2	chr22:22110091-22110785	GM12878	blood:	n/a	n/a
17	ATF2	chr22:22116954-22117845	GM12878	blood:	n/a	n/a
18	ATF3	chr22:22085283-22085638	K562	blood:	n/a	n/a
19	ATF3	chr22:22092339-22092812	K562	blood:	n/a	n/a
20	ATF3	chr22:22089508-22090939	K562	blood:	n/a	chr22:22090324-22090333
21	ATF3	chr22:22085156-22085628	K562	blood:	n/a	n/a
22	ATF3	chr22:22068054-22069174	K562	blood:	n/a	n/a
23	BACH1	chr22:22117207-22117385	K562	blood:	n/a	n/a
24	BACH1	chr22:22108719-22110743	K562	blood:	n/a	n/a
25	BACH1	chr22:22089779-22090921	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr22:22090700-22090772	K562	blood:	n/a	n/a
27	BATF	chr22:22121092-22121749	GM12878	blood:	n/a	chr22:22121176-22121185
28	BATF	chr22:22115408-22115706	GM12878	blood:	n/a	n/a
29	BATF	chr22:22116966-22117399	GM12878	blood:	n/a	n/a
30	BATF	chr22:22121104-22121721	GM12878	blood:	n/a	chr22:22121176-22121185
31	BATF	chr22:22110099-22110612	GM12878	blood:	n/a	n/a
32	BATF	chr22:22116960-22117351	GM12878	blood:	n/a	n/a
33	BATF	chr22:22115385-22115773	GM12878	blood:	n/a	n/a
34	BATF	chr22:22110081-22110614	GM12878	blood:	n/a	n/a
35	BCL11A	chr22:22117034-22117333	GM12878	blood:	n/a	n/a
36	BCL11A	chr22:22110197-22110544	GM12878	blood:	n/a	n/a
37	BCL11A	chr22:22116949-22117351	GM12878	blood:	n/a	n/a
38	BCL11A	chr22:22121344-22121720	GM12878	blood:	n/a	n/a
39	BCL11A	chr22:22110233-22110538	GM12878	blood:	n/a	n/a
40	BCL11A	chr22:22121342-22121774	GM12878	blood:	n/a	n/a
41	BCL3	chr22:22110056-22110685	GM12878	blood:	n/a	n/a
42	BCL3	chr22:22110185-22110602	GM12878	blood:	n/a	n/a
43	BCL3	chr22:22108533-22114154	K562	blood:	n/a	n/a
44	BCLAF1	chr22:22109931-22110974	GM12878	blood:	n/a	n/a
45	BCLAF1	chr22:22089690-22090197	GM12878	blood:	n/a	n/a
46	BCLAF1	chr22:22089050-22090609	K562	blood:	n/a	n/a
47	BCLAF1	chr22:22116953-22117875	GM12878	blood:	n/a	n/a
48	BHLHE40	chr22:22068756-22069080	K562	blood:	n/a	n/a
49	BHLHE40	chr22:22115423-22115653	GM12878	blood:	n/a	n/a
50	BHLHE40	chr22:22073417-22073646	HepG2	liver:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22093983-22094033	AG09309	skin:	n/a
2	chr22:22090132-22090182	AG04450	lung:	fetal
3	chr22:22093983-22094033	AG09309	skin:	n/a
4	chr22:22090132-22090182	AG04450	lung:	fetal
5	chr22:22090816-22090866	Hela-S3	cervix:	n/a
6	chr22:22090816-22090866	HUVEC	blood vessel:	n/a
7	chr22:22090129-22090179	GM12892	blood:	n/a
8	chr22:22090066-22090116	RPTEC	kidney:	n/a
9	chr22:22086335-22086385	NH-A	brain:	n/a
10	chr22:22090486-22090536	AG09319	gingival:	n/a
11	chr22:22090804-22090854	SKMC	muscle:	n/a
12	chr22:22089752-22089802	AG04450	lung:	fetal
13	chr22:22090804-22090854	Caco-2	colon:	n/a
14	chr22:22089368-22089418	Jurkat	blood:	n/a
15	chr22:22090816-22090866	A549	lung:	n/a
16	chr22:22118304-22118354	Jurkat	blood:	n/a
17	chr22:22090132-22090182	NH-A	brain:	n/a
18	chr22:22090804-22090854	HRCEpiC	kidney:	n/a
19	chr22:22118304-22118354	SK-N-MC	brain:	n/a
20	chr22:22093983-22094033	HMEC	breast:	n/a
21	chr22:22090486-22090536	IMR90	lung:	fetal
22	chr22:22090126-22090176	AG10803	skin:	n/a
23	chr22:22090804-22090854	HRE	kidney:	n/a
24	chr22:22090129-22090179	IMR90	lung:	fetal
25	chr22:22090066-22090116	K562	blood:	n/a
26	chr22:22090132-22090182	IMR90	lung:	fetal
27	chr22:22118304-22118354	Hela-S3	cervix:	n/a
28	chr22:22090132-22090182	AG04449	skin:	fetal
29	chr22:22090124-22090174	MCF10A-Er-Src	breast:	n/a
30	chr22:22089417-22089467	HepG2	liver:	n/a
31	chr22:22089417-22089467	HUVEC	blood vessel:	n/a
32	chr22:22090816-22090866	BJ	skin:	n/a
33	chr22:22090804-22090854	Hepatocyte	liver:	n/a
34	chr22:22093983-22094033	AG10803	skin:	n/a
35	chr22:22090486-22090536	Jurkat	blood:	n/a
36	chr22:22089417-22089467	HL-60	blood:	n/a
37	chr22:22090804-22090854	HL-60	blood:	n/a
38	chr22:22090126-22090176	MCF-7	breast:	n/a
39	chr22:22089368-22089418	HCM	heart:	n/a
40	chr22:22090804-22090854	GM06990	blood:	n/a
41	chr22:22090796-22090846	HRCEpiC	kidney:	n/a
42	chr22:22090124-22090174	HL-60	blood:	n/a
43	chr22:22090126-22090176	HMEC	breast:	n/a
44	chr22:22090124-22090174	Hepatocyte	liver:	n/a
45	chr22:22090796-22090846	ECC-1	luminal epithelium:	n/a
46	chr22:22089827-22089877	SAEC	small airway:	n/a
47	chr22:22090129-22090179	Jurkat	blood:	n/a
48	chr22:22090124-22090174	SK-N-SH_RA	brain:	n/a
49	chr22:22090124-22090174	NB4	blood:	n/a
50	chr22:22090066-22090116	HAEpiC	amniotic membrane:	n/a

(count:199 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
2	chr22:22088507..22090590-chr22:22096138..22098741,2	MCF-7	breast:
3	chr22:21978078..21980405-chr22:22112761..22114851,2	K562	blood:
4	chr22:22127790..22129989-chr22:22156925..22159029,2	K562	blood:
5	chr22:22080317..22081666-chr22:22292337..22293570,6	K562	blood:
6	chr22:22108696..22111013-chr22:22279549..22284979,5	K562	blood:
7	chr22:22100397..22102684-chr22:22294462..22297434,2	K562	blood:
8	chr22:22065133..22070504-chr22:22304213..22309346,8	K562	blood:
9	chr22:22112086..22114615-chr22:22292655..22295451,3	K562	blood:
10	chr22:22066150..22068560-chr22:22336921..22338725,2	K562	blood:
11	chr22:22071322..22073400-chr22:22269185..22271638,3	K562	blood:
12	chr22:22084176..22086091-chr22:22097609..22100060,2	K562	blood:
13	chr22:22086449..22088631-chr22:22421074..22423935,2	K562	blood:
14	chr22:22026397..22028078-chr22:22088852..22091514,2	MCF-7	breast:
15	chr22:22095626..22098293-chr4:146105951..146107730,2	MCF-7	breast:
16	chr22:22093488..22095220-chr22:22221549..22223087,2	K562	blood:
17	chr22:22067858..22070528-chr22:22306156..22308453,2	MCF-7	breast:
18	chr22:22076308..22077911-chr22:22088836..22091303,2	MCF-7	breast:
19	chr22:22088248..22093129-chr22:22216287..22223699,14	K562	blood:
20	chr22:22026235..22026958-chr22:22080901..22081670,2	K562	blood:
21	chr22:22107491..22109673-chr22:22180297..22182742,2	K562	blood:
22	chr22:22108841..22110548-chr22:22265297..22267699,2	K562	blood:
23	chr22:22056257..22058152-chr22:22092441..22095055,2	K562	blood:
24	chr22:22065955..22067902-chr22:22069811..22072389,2	K562	blood:
25	chr22:22019023..22020752-chr22:22089369..22093678,3	K562	blood:
26	chr22:22106802..22107652-chr22:22117095..22117849,2	K562	blood:
27	chr22:22014030..22014620-chr22:22080902..22081531,2	K562	blood:
28	chr22:22072101..22074972-chr22:22077643..22079155,2	K562	blood:
29	chr22:22080127..22082502-chr22:22094447..22097357,2	K562	blood:
30	chr22:22071696..22075407-chr22:22082382..22085993,5	K562	blood:
31	chr22:22055612..22059819-chr22:22080444..22082478,4	K562	blood:
32	chr22:22067148..22068136-chr22:22089667..22090766,3	K562	blood:
33	chr22:22089192..22091927-chr22:22279825..22282512,2	K562	blood:
34	chr22:21983705..21985362-chr22:22109794..22111442,2	MCF-7	breast:
35	chr22:22093571..22096168-chr22:22117600..22119106,2	MCF-7	breast:
36	chr22:22067136..22068163-chr22:22300753..22302623,8	K562	blood:
37	chr22:22128103..22132629-chr22:22289657..22294176,6	K562	blood:
38	chr22:22064353..22070160-chr22:22219719..22223588,8	K562	blood:
39	chr22:22088723..22091421-chr22:22896178..22899037,2	K562	blood:
40	chr22:22081098..22081614-chr22:22292958..22293509,2	MCF-7	breast:
41	chr22:22068382..22069327-chr22:22307268..22307847,2	K562	blood:
42	chr22:22091591..22094874-chr22:22098707..22104176,4	MCF-7	breast:
43	chr22:22077279..22079847-chr22:22080289..22082120,2	K562	blood:
44	chr22:22090286..22091894-chr22:22213594..22215383,2	K562	blood:
45	chr22:22107700..22110660-chr22:22291267..22295337,4	K562	blood:
46	chr22:22019700..22022032-chr22:22088092..22090057,3	MCF-7	breast:
47	chr22:22120700..22123218-chr22:22298408..22301361,2	K562	blood:
48	chr22:22088558..22091426-chr22:22293514..22295248,2	K562	blood:
49	chr22:22106546..22109125-chr22:22213093..22217007,3	K562	blood:
50	chr22:22079960..22082455-chr22:22217388..22219689,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-4	chr22:22106747-22106917	NONHSAT083717
2	lnc-PPIL2-4	chr22:22107011-22107258	NONHSAT083717
3	lnc-PPIL2-4	chr22:22105751-22106248	NONHSAT083717
4	lnc-PPIL2-4	chr22:22106358-22106522	NONHSAT083718
5	lnc-MAPK1-1	chr22:22077172-22077471	NONHSAT083715
6	lnc-PPIL2-4	chr22:22106747-22106918	NONHSAT083718

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	MAPK1	hsa-miR-320a	chr22:22122105-22122099
2	MAPK1	hsa-miR-320a	chr22:22117145-22117172
3	MAPK1	hsa-miR-28-5p	chr22:22123375-22123396

Variant related genes	Relation type
YPEL1	TF binding region
RN7SL280P	TF binding region
MAPK1	TF binding region
YPEL1	CpG island
RN7SL280P	CpG island
MAPK1	CpG island
ENSG00000100034	chromatin interactions
ENSG00000272858	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000244671	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000225039	chromatin interactions
ENSG00000200985	chromatin interactions
ENSG00000093183	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000161180	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000008324	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000100030	chromatin interactions

Extended variants
information (count: 2684 )
Associated
traits (count: 223 )

Variant overlapped rSNPs/rCNVs (count:2684 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73877675	chr22:22067667-22067668	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs137994598	chr22:22067686-22067687	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs149606236	chr22:22067694-22067695	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs182176702	chr22:22067703-22067704	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs8139619	chr22:22067722-22067723	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs531647510	chr22:22067770-22067771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs148863377	chr22:22067826-22067827	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs148778759	chr22:22067874-22067875	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs561623895	chr22:22067909-22067910	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs189100345	chr22:22067919-22067920	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs143316543	chr22:22067937-22067938	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs191805252	chr22:22068022-22068023	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs147546054	chr22:22068054-22068055	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs552761527	chr22:22068113-22068114	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs183767770	chr22:22068117-22068118	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs145350927	chr22:22068127-22068128	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs554992199	chr22:22068135-22068136	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs7349039	chr22:22068139-22068140	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs34469006	chr22:22068145-22068146	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs576191978	chr22:22068160-22068161	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs533838638	chr22:22068181-22068182	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs59785257	chr22:22068194-22068195	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577034527	chr22:22068223-22068224	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs545543233	chr22:22068265-22068266	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs562586195	chr22:22068282-22068283	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs11913755	chr22:22068297-22068298	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373338868	chr22:22068318-22068319	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs201751159	chr22:22068325-22068326	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs76849791	chr22:22068326-22068327	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs561690215	chr22:22068334-22068335	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs9607194	chr22:22068335-22068336	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571665542	chr22:22068337-22068338	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs560088845	chr22:22068338-22068339	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs532654717	chr22:22068353-22068354	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs552424799	chr22:22068363-22068364	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs569314630	chr22:22068371-22068372	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs538103120	chr22:22068411-22068412	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs139790417	chr22:22068416-22068417	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs568772467	chr22:22068421-22068422	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs540613884	chr22:22068423-22068424	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs563972665	chr22:22068427-22068428	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs577645391	chr22:22068473-22068474	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs576795025	chr22:22068493-22068494	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs539394285	chr22:22068494-22068495	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs188248852	chr22:22068516-22068517	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs17821327	chr22:22068517-22068518	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs541671028	chr22:22068526-22068527	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs555098109	chr22:22068533-22068534	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs11912130	chr22:22068539-22068540	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs540895438	chr22:22068540-22068541	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:223)

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
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
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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	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	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1995 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22052000-22070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:22053400-22068200	Weak transcription	Psoas Muscle	Psoas
3	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
4	chr22:22054200-22067800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:22056000-22080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:22056200-22067800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:22056200-22068600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:22056200-22069000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:22056600-22068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:22058000-22068600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:22058200-22073400	Weak transcription	Lung	lung
13	chr22:22064400-22068400	Weak transcription	Gastric	stomach
14	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine
15	chr22:22065000-22072800	Weak transcription	Primary B cells from cord blood	blood
16	chr22:22065000-22076800	Weak transcription	Ovary	ovary
17	chr22:22065000-22080200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:22065000-22088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:22065200-22088800	Weak transcription	Spleen	Spleen
20	chr22:22065400-22067800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:22065600-22068600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:22065600-22080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:22065600-22080800	Weak transcription	Primary T cells from cord blood	blood
24	chr22:22065800-22068200	Weak transcription	Thymus	Thymus
25	chr22:22067200-22067800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:22067200-22067800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr22:22067200-22067800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:22067200-22067800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:22067200-22067800	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr22:22067200-22067800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr22:22067200-22067800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr22:22067200-22067800	Enhancers	Left Ventricle	heart
33	chr22:22067200-22067800	Flanking Active TSS	NHDF-Ad	bronchial
34	chr22:22067200-22068000	Enhancers	Primary B cells from peripheral blood	blood
35	chr22:22067200-22068000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr22:22067200-22068000	Enhancers	Adipose Nuclei	Adipose
37	chr22:22067200-22068000	Enhancers	Fetal Lung	lung
38	chr22:22067200-22068000	Enhancers	Fetal Stomach	stomach
39	chr22:22067200-22068000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr22:22067200-22068000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr22:22067200-22068000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr22:22067200-22068000	Flanking Bivalent TSS/Enh	K562	blood
43	chr22:22067200-22068200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:22067200-22068200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr22:22067200-22068200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:22067200-22068600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr22:22067200-22068800	Strong transcription	Right Atrium	heart
48	chr22:22067200-22069000	Enhancers	Fetal Heart	heart
49	chr22:22067200-22069200	Enhancers	Pancreas	Pancrea
50	chr22:22067200-22069600	Enhancers	Fetal Muscle Leg	muscle

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