Variant report

Variant	nsv510804
Chromosome Location	chr22:22024531-22132764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2851)
CpG islands
(count:1467)
Chromatin interactive
region (count:270)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2851 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22069168-22069324	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:22062012-22062246	K562	blood:	n/a	n/a
3	ARID3A	chr22:22108775-22110663	K562	blood:	n/a	n/a
4	ARID3A	chr22:22067114-22067905	K562	blood:	n/a	n/a
5	ARID3A	chr22:22090153-22090405	K562	blood:	n/a	n/a
6	ARID3A	chr22:22089256-22089896	K562	blood:	n/a	n/a
7	ARID3A	chr22:22055617-22055953	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:22067398-22067835	HepG2	liver:	n/a	n/a
9	ATF1	chr22:22069140-22069441	K562	blood:	n/a	n/a
10	ATF1	chr22:22114936-22115664	K562	blood:	n/a	n/a
11	ATF1	chr22:22061934-22062359	K562	blood:	n/a	n/a
12	ATF1	chr22:22055722-22055810	K562	blood:	n/a	n/a
13	ATF1	chr22:22108776-22109714	K562	blood:	n/a	n/a
14	ATF1	chr22:22110058-22110480	K562	blood:	n/a	n/a
15	ATF1	chr22:22067177-22067910	K562	blood:	n/a	n/a
16	ATF2	chr22:22110091-22110785	GM12878	blood:	n/a	n/a
17	ATF2	chr22:22090399-22090648	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr22:22116919-22117833	GM12878	blood:	n/a	n/a
19	ATF2	chr22:22110187-22110755	GM12878	blood:	n/a	n/a
20	ATF2	chr22:22121195-22121792	GM12878	blood:	n/a	n/a
21	ATF2	chr22:22116954-22117845	GM12878	blood:	n/a	n/a
22	ATF3	chr22:22092339-22092812	K562	blood:	n/a	n/a
23	ATF3	chr22:22040854-22041370	K562	blood:	n/a	n/a
24	ATF3	chr22:22089508-22090939	K562	blood:	n/a	chr22:22090324-22090333
25	ATF3	chr22:22085283-22085638	K562	blood:	n/a	n/a
26	ATF3	chr22:22085156-22085628	K562	blood:	n/a	n/a
27	ATF3	chr22:22068054-22069174	K562	blood:	n/a	n/a
28	BACH1	chr22:22108719-22110743	K562	blood:	n/a	n/a
29	BACH1	chr22:22058333-22058549	K562	blood:	n/a	n/a
30	BACH1	chr22:22117207-22117385	K562	blood:	n/a	n/a
31	BACH1	chr22:22089779-22090921	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr22:22129568-22129648	K562	blood:	n/a	n/a
33	BACH1	chr22:22090700-22090772	K562	blood:	n/a	n/a
34	BATF	chr22:22115385-22115773	GM12878	blood:	n/a	n/a
35	BATF	chr22:22043068-22043266	GM12878	blood:	n/a	n/a
36	BATF	chr22:22116960-22117351	GM12878	blood:	n/a	n/a
37	BATF	chr22:22044680-22044977	GM12878	blood:	n/a	n/a
38	BATF	chr22:22116966-22117399	GM12878	blood:	n/a	n/a
39	BATF	chr22:22121104-22121721	GM12878	blood:	n/a	chr22:22121176-22121185
40	BATF	chr22:22110099-22110612	GM12878	blood:	n/a	n/a
41	BATF	chr22:22121092-22121749	GM12878	blood:	n/a	chr22:22121176-22121185
42	BATF	chr22:22110081-22110614	GM12878	blood:	n/a	n/a
43	BATF	chr22:22115408-22115706	GM12878	blood:	n/a	n/a
44	BCL11A	chr22:22117034-22117333	GM12878	blood:	n/a	n/a
45	BCL11A	chr22:22121344-22121720	GM12878	blood:	n/a	n/a
46	BCL11A	chr22:22110197-22110544	GM12878	blood:	n/a	n/a
47	BCL11A	chr22:22121342-22121774	GM12878	blood:	n/a	n/a
48	BCL11A	chr22:22116949-22117351	GM12878	blood:	n/a	n/a
49	BCL11A	chr22:22110233-22110538	GM12878	blood:	n/a	n/a
50	BCL3	chr22:22052929-22053845	K562	blood:	n/a	n/a

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22058203-22058253	HRCEpiC	kidney:	n/a
2	chr22:22093983-22094033	GM19239	blood:	n/a
3	chr22:22058080-22058130	GM12891	blood:	n/a
4	chr22:22058203-22058253	HRCEpiC	kidney:	n/a
5	chr22:22093983-22094033	GM19239	blood:	n/a
6	chr22:22058080-22058130	GM12891	blood:	n/a
7	chr22:22058080-22058130	BE2_C	brain:	n/a
8	chr22:22086335-22086385	GM12891	blood:	n/a
9	chr22:22090126-22090176	HCT-116	colon:	n/a
10	chr22:22051534-22051584	PrEC	prostate:	n/a
11	chr22:22055412-22055462	HAEpiC	amniotic membrane:	n/a
12	chr22:22090816-22090866	ECC-1	luminal epithelium:	n/a
13	chr22:22090066-22090116	AG09319	gingival:	n/a
14	chr22:22058080-22058130	ProgFib	skin:	n/a
15	chr22:22086335-22086385	NH-A	brain:	n/a
16	chr22:22089752-22089802	U87	brain:	n/a
17	chr22:22089417-22089467	AG10803	skin:	n/a
18	chr22:22058271-22058321	Caco-2	colon:	n/a
19	chr22:22090066-22090116	K562	blood:	n/a
20	chr22:22058271-22058321	SK-N-SH	brain:	n/a
21	chr22:22090129-22090179	HEEpiC	esophagus:	n/a
22	chr22:22051534-22051584	BE2_C	brain:	n/a
23	chr22:22058080-22058130	BJ	skin:	n/a
24	chr22:22090124-22090174	SK-N-MC	brain:	n/a
25	chr22:22090129-22090179	HMEC	breast:	n/a
26	chr22:22090486-22090536	HL-60	blood:	n/a
27	chr22:22062300-22062350	LNCaP	prostate:	n/a
28	chr22:22056517-22056567	U87	brain:	n/a
29	chr22:22093983-22094033	AG10803	skin:	n/a
30	chr22:22052942-22052992	T-47D	breast:	n/a
31	chr22:22062300-22062350	MCF-7	breast:	n/a
32	chr22:22086335-22086385	AG10803	skin:	n/a
33	chr22:22089417-22089467	SAEC	small airway:	n/a
34	chr22:22090132-22090182	AG04450	lung:	fetal
35	chr22:22058203-22058253	PFSK-1	brain:	n/a
36	chr22:22090796-22090846	PANC-1	pancreas:	n/a
37	chr22:22062300-22062350	SKMC	muscle:	n/a
38	chr22:22090066-22090116	Hepatocyte	liver:	n/a
39	chr22:22089368-22089418	HAEpiC	amniotic membrane:	n/a
40	chr22:22058203-22058253	U87	brain:	n/a
41	chr22:22118304-22118354	NHDF-neo	bronchial:	n/a
42	chr22:22118304-22118354	NH-A	brain:	n/a
43	chr22:22090126-22090176	HRPEpiC	eye:	n/a
44	chr22:22090486-22090536	HRPEpiC	eye:	n/a
45	chr22:22089752-22089802	HAEpiC	amniotic membrane:	n/a
46	chr22:22055412-22055462	HCM	heart:	n/a
47	chr22:22090124-22090174	HAEpiC	amniotic membrane:	n/a
48	chr22:22089827-22089877	Hepatocyte	liver:	n/a
49	chr22:22089368-22089418	NH-A	brain:	n/a
50	chr22:22090804-22090854	LNCaP	prostate:	n/a

(count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr22:22095626..22098293-chr4:146105951..146107730,2	MCF-7	breast:
2	chr22:22066804..22067331-chr22:22549480..22550384,2	K562	blood:
3	chr22:22055612..22059819-chr22:22080444..22082478,4	K562	blood:
4	chr22:22001132..22001649-chr22:22080659..22081209,2	K562	blood:
5	chr22:22076308..22077911-chr22:22088836..22091303,2	MCF-7	breast:
6	chr22:22066198..22068763-chr22:22306055..22308716,2	MCF-7	breast:
7	chr22:22048042..22050034-chr6:108878233..108881121,2	K562	blood:
8	chr22:22040941..22043487-chr22:22055352..22056893,2	MCF-7	breast:
9	chr22:22051706..22055325-chr22:22218845..22220883,3	K562	blood:
10	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
11	chr22:22110435..22112750-chr22:22276025..22277904,2	K562	blood:
12	chr22:22062493..22064208-chr22:22081011..22082860,2	K562	blood:
13	chr22:22068382..22069327-chr22:22307268..22307847,2	K562	blood:
14	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
15	chr22:22045258..22047594-chr22:22049777..22052096,2	MCF-7	breast:
16	chr22:22125989..22128190-chr22:22174019..22176581,2	K562	blood:
17	chr22:22093488..22095220-chr22:22221549..22223087,2	K562	blood:
18	chr22:22088545..22090754-chr22:22292290..22294479,2	MCF-7	breast:
19	chr22:22080117..22083235-chr22:22087991..22091300,5	MCF-7	breast:
20	chr22:22068417..22069978-chr22:22083536..22086410,2	MCF-7	breast:
21	chr22:22067149..22069360-chr22:22080582..22081610,9	MCF-7	breast:
22	chr22:22080656..22083556-chr22:22291306..22293542,2	K562	blood:
23	chr22:22055612..22059819-chr22:22080444..22082478,4	K562	blood:
24	chr22:22129101..22130763-chr22:22220420..22222313,2	K562	blood:
25	chr22:22069048..22071193-chr22:22088822..22090347,2	MCF-7	breast:
26	chr22:22087956..22092439-chr22:22291559..22296073,7	K562	blood:
27	chr22:22055546..22056188-chr22:22292673..22293505,2	K562	blood:
28	chr22:22027702..22029917-chr22:22051466..22054058,2	MCF-7	breast:
29	chr22:22131580..22133092-chr22:22219677..22221609,2	MCF-7	breast:
30	chr22:22066150..22068560-chr22:22336921..22338725,2	K562	blood:
31	chr22:22108499..22109538-chr22:22292552..22293177,3	K562	blood:
32	chr22:22066089..22068465-chr22:22108326..22110815,2	K562	blood:
33	chr22:22106546..22109125-chr22:22213093..22217007,3	K562	blood:
34	chr22:22073793..22075931-chr22:22253335..22255670,2	K562	blood:
35	chr22:22026397..22028078-chr22:22088852..22091514,2	MCF-7	breast:
36	chr22:22063723..22066195-chr22:22067309..22069488,2	MCF-7	breast:
37	chr22:22085813..22088174-chr22:22279983..22282803,2	K562	blood:
38	chr22:21801362..21804188-chr22:22036295..22038184,2	K562	blood:
39	chr22:22087745..22091288-chr22:22108991..22112172,3	MCF-7	breast:
40	chr22:22079397..22081685-chr22:22219818..22221978,2	K562	blood:
41	chr22:21983948..21987333-chr22:22088191..22091412,3	K562	blood:
42	chr22:22067175..22068130-chr22:22109893..22111057,3	K562	blood:
43	chr22:22054126..22055638-chr22:22220906..22222489,2	K562	blood:
44	chr22:22063185..22064005-chr22:22292891..22293848,2	K562	blood:
45	chr22:22033816..22035772-chr22:22221671..22223696,2	K562	blood:
46	chr22:22067733..22069469-chr22:22300683..22303045,3	MCF-7	breast:
47	chr22:22090396..22092560-chr22:22305855..22308907,4	K562	blood:
48	chr22:22067689..22069822-chr22:22273194..22275247,2	K562	blood:
49	chr22:22027598..22028104-chr22:22081121..22081624,2	MCF-7	breast:
50	chr22:22067378..22068159-chr22:22483388..22484180,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-4	chr22:22105751-22106248	NONHSAT083717
2	lnc-MAPK1-3	chr22:22051836-22054023	NONHSAT083713
3	lnc-PPIL2-2	chr22:22051174-22052201	NONHSAT083711
4	lnc-PPIL2-2	chr22:22024855-22024900	NONHSAT083707
5	lnc-PPIL2-4	chr22:22106747-22106917	NONHSAT083717
6	lnc-MAPK1-1	chr22:22077172-22077471	NONHSAT083715
7	lnc-PPIL2-4	chr22:22106358-22106522	NONHSAT083718
8	lnc-PPIL2-4	chr22:22106747-22106918	NONHSAT083718
9	lnc-PPIL2-4	chr22:22107011-22107258	NONHSAT083717
10	lnc-PPIL2-2	chr22:22051174-22052201	NONHSAT083707
11	lnc-PPIL2-2	chr22:22039927-22040015	NONHSAT083711
12	lnc-PPIL2-2	chr22:22024202-22024572	NONHSAT083708

No data

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

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

Variant related genes	Relation type
YPEL1	TF binding region
RN7SL280P	TF binding region
PPIL2	TF binding region
MAPK1	TF binding region
YPEL1	CpG island
RN7SL280P	CpG island
PPIL2	CpG island
MAPK1	CpG island
ENSG00000212102	chromatin interactions
ENSG00000161180	chromatin interactions
ENSG00000008324	chromatin interactions
ENSG00000244671	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000211640	chromatin interactions
ENSG00000200985	chromatin interactions
ENSG00000225039	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000093183	chromatin interactions
ENSG00000273342	chromatin interactions
ENSG00000118689	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000272858	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000207751	chromatin interactions

Extended variants
information (count: 4879 )
Associated
traits (count: 224 )

Variant overlapped rSNPs/rCNVs (count:4879 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150956872	chr22:22024542-22024543	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs527821877	chr22:22024612-22024613	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs192323529	chr22:22024673-22024674	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs570740445	chr22:22024759-22024760	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs533477816	chr22:22024786-22024787	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs184420297	chr22:22024799-22024800	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs570283102	chr22:22024802-22024803	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs535113568	chr22:22024815-22024816	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs199940946	chr22:22024820-22024821	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs190115041	chr22:22024868-22024869	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs73382365	chr22:22024887-22024888	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533409712	chr22:22024920-22024921	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs372201504	chr22:22024965-22024966	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs16990218	chr22:22024990-22024991	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs577779009	chr22:22024996-22024997	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs568098067	chr22:22025031-22025032	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs556980472	chr22:22025033-22025034	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs573839666	chr22:22025085-22025086	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs542548637	chr22:22025133-22025134	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs561794505	chr22:22025167-22025168	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs370659593	chr22:22025237-22025238	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs143867306	chr22:22025245-22025246	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs374080411	chr22:22025265-22025266	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs377318280	chr22:22025274-22025275	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs370871572	chr22:22025285-22025286	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs202229100	chr22:22025291-22025292	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs145883797	chr22:22025310-22025311	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs149000654	chr22:22025325-22025326	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs192875862	chr22:22025334-22025335	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs374438374	chr22:22025365-22025366	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs112807589	chr22:22025387-22025388	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs371051805	chr22:22025388-22025389	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs1647705	chr22:22025462-22025463	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs108815	chr22:22025476-22025477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143244242	chr22:22025554-22025555	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs35747572	chr22:22025558-22025559	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs146708734	chr22:22025566-22025567	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs118046190	chr22:22025588-22025589	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs185065752	chr22:22025598-22025599	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs189524838	chr22:22025600-22025601	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs534568716	chr22:22025665-22025666	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs108816	chr22:22025670-22025671	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs571277075	chr22:22025673-22025674	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs536865351	chr22:22025790-22025791	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs557161980	chr22:22025799-22025800	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs539630908	chr22:22025819-22025820	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs61199826	chr22:22025866-22025867	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs397951463	chr22:22025876-22025877	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs542542916	chr22:22025927-22025928	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs552834331	chr22:22025938-22025939	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:224)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3563 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22021200-22025000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:22021200-22025000	Weak transcription	Aorta	Aorta
3	chr22:22021200-22025200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:22021400-22024600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:22021400-22024600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:22021400-22024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:22021400-22024800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:22021400-22024800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr22:22021400-22024800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:22021400-22024800	Weak transcription	Fetal Brain Female	brain
11	chr22:22021400-22024800	Weak transcription	Fetal Heart	heart
12	chr22:22021400-22024800	Weak transcription	Right Atrium	heart
13	chr22:22021400-22024800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:22021400-22024800	Weak transcription	NH-A	brain
15	chr22:22021400-22024800	Weak transcription	NHDF-Ad	bronchial
16	chr22:22021400-22024800	Weak transcription	Osteobl	bone
17	chr22:22021400-22025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:22021400-22025000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:22021400-22025000	Weak transcription	Colonic Mucosa	Colon
20	chr22:22021400-22025000	Weak transcription	Gastric	stomach
21	chr22:22021400-22025000	Weak transcription	Right Ventricle	heart
22	chr22:22021400-22025000	Weak transcription	Small Intestine	intestine
23	chr22:22021400-22025200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:22021400-22025400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:22021400-22025400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr22:22021400-22025600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr22:22021400-22026200	Weak transcription	Fetal Kidney	kidney
28	chr22:22021400-22026400	Weak transcription	Psoas Muscle	Psoas
29	chr22:22021400-22032000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:22021400-22035200	Weak transcription	Stomach Mucosa	stomach
31	chr22:22021400-22036600	Weak transcription	A549	lung
32	chr22:22021600-22024600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:22021600-22024600	Weak transcription	Colon Smooth Muscle	Colon
34	chr22:22021600-22025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:22021600-22025200	Weak transcription	Fetal Lung	lung
36	chr22:22021800-22024800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr22:22021800-22024800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr22:22021800-22025000	Weak transcription	Pancreas	Pancrea
39	chr22:22022000-22024600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:22022000-22024600	Weak transcription	Brain Substantia Nigra	brain
41	chr22:22022000-22024800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr22:22022000-22025000	Weak transcription	Hela-S3	cervix
43	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
44	chr22:22022200-22030600	Strong transcription	Fetal Stomach	stomach
45	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr22:22022600-22024800	Weak transcription	Esophagus	oesophagus
47	chr22:22022600-22025000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr22:22023400-22025000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:22023400-22025200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:22023400-22030600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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