Variant report

Variant	esv2422318
Chromosome Location	chr22:16894543-17163688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2208)
CpG islands
(count:1897)
Chromatin interactive
region (count:35)
LncRNA
region (count:67)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2208 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:17086114-17086516	K562	blood:	n/a	n/a
2	ARID3A	chr22:17083673-17085411	K562	blood:	n/a	n/a
3	ARID3A	chr22:17163603-17163795	K562	blood:	n/a	n/a
4	ARID3A	chr22:17104647-17104707	K562	blood:	n/a	n/a
5	ARID3A	chr22:17085680-17085825	K562	blood:	n/a	n/a
6	ARID3A	chr22:17067242-17067477	K562	blood:	n/a	n/a
7	ARID3A	chr22:17080316-17082667	K562	blood:	n/a	n/a
8	ARID3A	chr22:16953138-16953239	K562	blood:	n/a	n/a
9	ARID3A	chr22:17051643-17051804	K562	blood:	n/a	n/a
10	ARID3A	chr22:16912144-16912145	K562	blood:	n/a	n/a
11	ARID3A	chr22:17161347-17161711	K562	blood:	n/a	n/a
12	ARID3A	chr22:17088412-17088518	K562	blood:	n/a	n/a
13	ARID3A	chr22:17107175-17107287	K562	blood:	n/a	n/a
14	ARID3A	chr22:17035973-17035982	K562	blood:	n/a	n/a
15	ARID3A	chr22:17086771-17086774	K562	blood:	n/a	n/a
16	ARID3A	chr22:17105483-17105715	K562	blood:	n/a	n/a
17	ARID3A	chr22:17148841-17148845	K562	blood:	n/a	n/a
18	ARID3A	chr22:16924216-16924217	K562	blood:	n/a	n/a
19	ARID3A	chr22:17160688-17160822	K562	blood:	n/a	n/a
20	ARID3A	chr22:16950758-16950943	K562	blood:	n/a	n/a
21	ATF1	chr22:16953162-16953167	K562	blood:	n/a	n/a
22	ATF1	chr22:17135095-17135454	K562	blood:	n/a	n/a
23	ATF1	chr22:16952471-16952703	K562	blood:	n/a	n/a
24	ATF1	chr22:17080622-17080964	K562	blood:	n/a	n/a
25	ATF1	chr22:17149870-17149871	K562	blood:	n/a	n/a
26	ATF1	chr22:16994923-16995006	K562	blood:	n/a	n/a
27	ATF1	chr22:17081356-17082555	K562	blood:	n/a	n/a
28	ATF1	chr22:17138146-17138271	K562	blood:	n/a	n/a
29	ATF1	chr22:17108309-17108391	K562	blood:	n/a	n/a
30	ATF1	chr22:17084142-17084990	K562	blood:	n/a	n/a
31	ATF1	chr22:17162381-17162517	K562	blood:	n/a	n/a
32	ATF1	chr22:17067146-17067338	K562	blood:	n/a	n/a
33	ATF1	chr22:17049413-17049668	K562	blood:	n/a	n/a
34	ATF1	chr22:17139117-17139492	K562	blood:	n/a	n/a
35	ATF1	chr22:16950592-16951044	K562	blood:	n/a	n/a
36	ATF1	chr22:16916895-16916925	K562	blood:	n/a	n/a
37	ATF1	chr22:17085761-17085797	K562	blood:	n/a	n/a
38	ATF1	chr22:16951987-16952028	K562	blood:	n/a	n/a
39	ATF1	chr22:17075053-17075253	K562	blood:	n/a	n/a
40	ATF1	chr22:17131258-17131397	K562	blood:	n/a	n/a
41	ATF1	chr22:17136424-17136607	K562	blood:	n/a	n/a
42	ATF1	chr22:17150691-17150975	K562	blood:	n/a	n/a
43	ATF1	chr22:17105533-17105547	K562	blood:	n/a	n/a
44	ATF1	chr22:17150383-17150486	K562	blood:	n/a	n/a
45	ATF1	chr22:17085298-17085349	K562	blood:	n/a	n/a
46	ATF1	chr22:16998935-16998936	K562	blood:	n/a	n/a
47	ATF1	chr22:17031177-17031349	K562	blood:	n/a	n/a
48	ATF1	chr22:17162719-17162788	K562	blood:	n/a	n/a
49	ATF1	chr22:17055528-17055727	K562	blood:	n/a	n/a
50	ATF3	chr22:17081869-17082397	K562	blood:	n/a	n/a

(count:1897 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:17000596-17000646	SK-N-MC	brain:	n/a
2	chr22:17083412-17083462	IMR90	lung:	fetal
3	chr22:17001266-17001316	ovcar-3	ovarian:	n/a
4	chr22:17074849-17074899	H1-hESC	embryonic stem cell:	embryo
5	chr22:17002291-17002341	HL-60	blood:	n/a
6	chr22:16998752-16998802	PANC-1	pancreas:	n/a
7	chr22:17000596-17000646	SK-N-MC	brain:	n/a
8	chr22:17083412-17083462	IMR90	lung:	fetal
9	chr22:17001266-17001316	ovcar-3	ovarian:	n/a
10	chr22:17074849-17074899	H1-hESC	embryonic stem cell:	embryo
11	chr22:17002291-17002341	HL-60	blood:	n/a
12	chr22:16998752-16998802	PANC-1	pancreas:	n/a
13	chr22:17082787-17082837	HRE	kidney:	n/a
14	chr22:17002014-17002064	HCT-116	colon:	n/a
15	chr22:17081716-17081766	MCF10A-Er-Src	breast:	n/a
16	chr22:17082772-17082822	U87	brain:	n/a
17	chr22:17002043-17002093	HMEC	breast:	n/a
18	chr22:17093737-17093787	PFSK-1	brain:	n/a
19	chr22:17083563-17083613	ProgFib	skin:	n/a
20	chr22:17001515-17001565	HCF	heart:	n/a
21	chr22:17078353-17078403	HNPCEpiC	eye:	n/a
22	chr22:17091223-17091273	HCT-116	colon:	n/a
23	chr22:17090862-17090912	AG04450	lung:	fetal
24	chr22:17083482-17083532	PFSK-1	brain:	n/a
25	chr22:17078353-17078403	AG09309	skin:	n/a
26	chr22:17081716-17081766	HCPEpiC	choroid plexus:	n/a
27	chr22:17090586-17090636	HCF	heart:	n/a
28	chr22:17000596-17000646	NHDF-neo	bronchial:	n/a
29	chr22:17082770-17082820	Hepatocyte	liver:	n/a
30	chr22:17075075-17075125	HAEpiC	amniotic membrane:	n/a
31	chr22:17000596-17000646	HRE	kidney:	n/a
32	chr22:17002014-17002064	SK-N-SH_RA	brain:	n/a
33	chr22:17075075-17075125	AG09309	skin:	n/a
34	chr22:17083482-17083532	T-47D	breast:	n/a
35	chr22:17082787-17082837	BJ	skin:	n/a
36	chr22:16998752-16998802	HEK293	kidney:	embryo
37	chr22:17093737-17093787	HCPEpiC	choroid plexus:	n/a
38	chr22:16998752-16998802	CMK	blood:	n/a
39	chr22:17090862-17090912	NH-A	brain:	n/a
40	chr22:17083727-17083777	HEEpiC	esophagus:	n/a
41	chr22:17073884-17073934	GM12878	blood:	n/a
42	chr22:17083412-17083462	Hepatocyte	liver:	n/a
43	chr22:17001266-17001316	T-47D	breast:	n/a
44	chr22:17090136-17090186	HCT-116	colon:	n/a
45	chr22:17090918-17090968	HPAEpiC	pulmonary alveolar:	n/a
46	chr22:17075075-17075125	SKMC	muscle:	n/a
47	chr22:17083412-17083462	GM12891	blood:	n/a
48	chr22:17083412-17083462	BJ	skin:	n/a
49	chr22:17087887-17087937	SK-N-SH	brain:	n/a
50	chr22:17082770-17082820	AG04449	skin:	fetal

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:17082962..17084554-chr9:134023631..134026390,2	K562	blood:
2	chr22:17072773..17077374-chr22:17079286..17083716,6	K562	blood:
3	chr22:17075301..17077505-chr22:17080578..17084448,4	K562	blood:
4	chr22:17071010..17072768-chr22:17080566..17082153,2	K562	blood:
5	chr22:17071010..17072768-chr22:17080566..17082153,2	K562	blood:
6	chr22:17082340..17084089-chr22:17130817..17132862,2	K562	blood:
7	chr12:6111028..6112821-chr22:17161710..17163211,2	MCF-7	breast:
8	chr18:12120897..12121609-chr22:17160804..17161481,3	MCF-7	breast:
9	chr22:17075301..17077505-chr22:17080578..17084448,4	K562	blood:
10	chr13:91999824..92001564-chr22:17082538..17085283,2	K562	blood:
11	chr22:17066485..17068775-chr22:17071695..17075675,3	K562	blood:
12	chr22:17082358..17084442-chr22:17159222..17161511,2	K562	blood:
13	chr22:17081180..17083610-chr22:17135094..17137742,2	K562	blood:
14	chr18:12120896..12121904-chr22:17160896..17161585,3	K562	blood:
15	chr22:17081525..17084142-chr22:17085115..17087609,4	K562	blood:
16	chr22:17085288..17087578-chr22:17090332..17092725,3	K562	blood:
17	chr22:17095902..17098628-chr22:17101991..17105262,3	K562	blood:
18	chr22:17065487..17068388-chr22:17081706..17083648,2	K562	blood:
19	chr22:17082503..17084009-chr7:152131864..152134485,2	MCF-7	breast:
20	chr22:17148262..17150911-chr22:17154538..17157063,2	K562	blood:
21	chr13:92000064..92003448-chr22:17083783..17086149,3	K562	blood:
22	chr22:17072773..17077374-chr22:17079286..17083716,6	K562	blood:
23	chr22:17085288..17087578-chr22:17090332..17092725,3	K562	blood:
24	chr22:17081348..17084089-chr22:17130904..17132862,2	K562	blood:
25	chr22:17133315..17135058-chr22:17137810..17140795,2	K562	blood:
26	chr22:17081979..17085295-chr22:17088435..17090157,4	K562	blood:
27	chr13:91999362..92002277-chr22:17079739..17082156,2	K562	blood:
28	chr20:52209610..52210588-chr22:17090415..17091184,2	Hela-S3	cervix:
29	chr22:17081199..17083533-chr22:17104130..17106306,2	K562	blood:
30	chr22:17082358..17084442-chr22:17159222..17161511,2	K562	blood:
31	chr22:17089247..17092556-chr22:17095289..17098917,3	K562	blood:
32	chr22:17082340..17084089-chr22:17130817..17132862,2	K562	blood:
33	chr22:17090395..17091942-chr22:17092016..17096359,3	K562	blood:
34	chr22:17082698..17084790-chr9:134149841..134152671,2	K562	blood:
35	chr22:17040660..17041327-chr7:128392491..128392991,2	MCF-7	breast:

(count:67 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCT8L2-1	chr22:17142366-17142445	ENSG00000189295.8
2	lnc-IL17RA-23	chr22:16898526-16900734	NONHSAT083121
3	lnc-CCT8L2-1	chr22:17134599-17134966	NR_040115
4	lnc-IL17RA-22	chr22:16905250-16905937	NONHSAT083122
5	lnc-CCT8L2-1	chr22:17152408-17152478	NR_040115
6	lnc-CCT8L2-1	chr22:17140387-17140518	ENSG00000189295.8
7	lnc-CCT8L2-5	chr22:16909690-16909904	NONHSAT083123
8	lnc-CCT8L2-1	chr22:17151107-17151151	ENSG00000189295.8
9	lnc-CCT8L2-1	chr22:17140748-17140859	ENSG00000189295.8
10	lnc-IL17RA-4	chr22:17100942-17101050	ENSG00000100181
11	lnc-CCT8L2-1	chr22:17156013-17156342	ENSG00000189295.8
12	lnc-CCT8L2-1	chr22:17150352-17150510	ENSG00000189295.8
13	lnc-IL17RA-5	chr22:17097060-17097236	XLOC_014137
14	lnc-IL17RA-4	chr22:17134400-17134582	ENSG00000100181
15	lnc-IL17RA-22	chr22:16906243-16906756	NONHSAT083122
16	lnc-CCT8L2-5	chr22:16957442-16957613	NONHSAT083123
17	lnc-CCT8L2-5	chr22:16919027-16919177	NONHSAT083123
18	lnc-CCT8L2-1	chr22:17152408-17152478	ENSG00000189295.8
19	lnc-CCT8L2-5	chr22:16940672-16940846	NONHSAT083123
20	lnc-CCT8L2-1	chr22:17142366-17142445	NR_040115
21	lnc-CCT8L2-1	chr22:17134956-17134966	ENSG00000189295.8
22	lnc-CCT8L2-1	chr22:17158083-17158266	ENSG00000189295.8
23	lnc-IL17RA-21	chr22:16956377-16956672	expReg_chr22_183_+
24	lnc-IL17RA-4	chr22:17130820-17130851	ENSG00000100181
25	lnc-IL17RA-4	chr22:17100507-17100610	NONHSAT083142
26	lnc-IL17RA-4	chr22:17133212-17133373	ENSG00000100181
27	lnc-CCT8L2-1	chr22:17160182-17160374	ENSG00000189295.8
28	lnc-CCT8L2-1	chr22:17156013-17156430	ENSG00000189295.8
29	lnc-CCT8L2-5	chr22:16914068-16914203	NONHSAT083123
30	lnc-CCT8L2-1	chr22:17152345-17152478	NONHSAT083150
31	lnc-IL17RA-4	chr22:17134400-17134580	NONHSAT083142
32	lnc-IL17RA-4	chr22:17103731-17103787	ENSG00000100181
33	lnc-IL17RA-4	chr22:17119469-17119630	ENSG00000100181.17
34	lnc-IL17RA-4	chr22:17120188-17121627	ENSG00000100181.17
35	lnc-IL17RA-4	chr22:17133823-17134695	ENSG00000100181
36	lnc-IL17RA-17	chr22:17080310-17080839	NONHSAT083129
37	lnc-IL17RA-5	chr22:17097636-17098004	XLOC_014137
38	lnc-CCT8L2-1	chr22:17152408-17152478	ENSG00000189295.8
39	lnc-IL17RA-4	chr22:17129417-17129538	ENSG00000100181
40	lnc-IL17RA-22	chr22:16905970-16906213	NONHSAT083122
41	lnc-CCT8L2-1	chr22:17154490-17154642	NR_040115
42	lnc-CCT8L2-1	chr22:17140748-17140859	NR_040115
43	lnc-CCT8L2-5	chr22:16920053-16920131	NONHSAT083123
44	lnc-IL17RA-4	chr22:17119469-17119870	ENSG00000100181.17
45	lnc-IL17RA-4	chr22:17128495-17128675	ENSG00000100181
46	lnc-CCT8L2-5	chr22:16953593-16953719	NONHSAT083123
47	lnc-CCT8L2-1	chr22:17150352-17150510	NR_040115
48	lnc-CCT8L2-1	chr22:17154451-17154627	ENSG00000189295.8
49	lnc-IL17RA-4	chr22:17117910-17117980	ENSG00000100181.17
50	lnc-IL17RA-4	chr22:17119469-17119630	ENSG00000100181

No data

Variant related genes	Relation type
SLC25A15P5	TF binding region
KCNMB3P1	TF binding region
CCT8L2	TF binding region
CHEK2P4	TF binding region
SLC9B1P4	TF binding region
TPTEP1	TF binding region
PABPC1P9	TF binding region
PARP4P3	TF binding region
ENSG00000233995	TF binding region
ENSG00000221084	TF binding region
FABP5P11	TF binding region
ACTR3BP6	TF binding region
ENSG00000267338	TF binding region
ENSG00000273362	TF binding region
ANKRD62P1	TF binding region
ANKRD62P1-PARP4P3	TF binding region
SLC25A15P5	CpG island
KCNMB3P1	CpG island
CCT8L2	CpG island
CHEK2P4	CpG island
SLC9B1P4	CpG island
TPTEP1	CpG island
PABPC1P9	CpG island
PARP4P3	CpG island
ENSG00000233995	CpG island
ENSG00000221084	CpG island
FABP5P11	CpG island
ACTR3BP6	CpG island
ENSG00000267338	CpG island
ENSG00000273362	CpG island
ANKRD62P1	CpG island
ANKRD62P1-PARP4P3	CpG island
ENSG00000215417	chromatin interactions
ENSG00000055609	chromatin interactions
ENSG00000259271	chromatin interactions
ENSG00000240122	chromatin interactions
ENSG00000100181	chromatin interactions
ENSG00000221084	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000267338	chromatin interactions
ENSG00000198445	chromatin interactions
ENSG00000241735	chromatin interactions
ENSG00000249263	chromatin interactions
ENSG00000126882	chromatin interactions
ENSG00000126883	chromatin interactions
ENSG00000189295	chromatin interactions

Extended variants
information (count: 8045 )
Associated
traits (count: 217 )

Variant overlapped rSNPs/rCNVs (count:8045 , 50 per page) page: 1 2 3 4 5 6 7 ... 161

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559449220	chr22:16898545-16898546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs182562795	chr22:16898555-16898556	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs373699078	chr22:16898561-16898562	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs545060994	chr22:16898566-16898567	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs78542264	chr22:16898608-16898609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs78425737	chr22:16898613-16898614	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs75328997	chr22:16898623-16898624	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs79010720	chr22:16898652-16898653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs530592118	chr22:16898662-16898663	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs566188213	chr22:16898674-16898675	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs549276290	chr22:16898681-16898682	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs141426645	chr22:16898700-16898701	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs150473930	chr22:16898703-16898704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs546277019	chr22:16898724-16898725	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs74691342	chr22:16898726-16898727	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs571408910	chr22:16898727-16898728	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs538745378	chr22:16898763-16898764	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs75330947	chr22:16898766-16898767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs76277697	chr22:16898776-16898777	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs3954535	chr22:16898788-16898789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs3954536	chr22:16898833-16898834	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs570282580	chr22:16898838-16898839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs4010539	chr22:16898844-16898845	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs192728954	chr22:16898857-16898858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs556058983	chr22:16898859-16898860	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs141859835	chr22:16898869-16898870	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs535194455	chr22:16898871-16898872	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs558520091	chr22:16898884-16898885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs552939165	chr22:16898886-16898887	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs577570776	chr22:16898891-16898892	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs545121882	chr22:16898895-16898896	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs563408065	chr22:16898902-16898903	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs575430580	chr22:16898910-16898911	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs571934772	chr22:16898913-16898914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs542439503	chr22:16898914-16898915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs140118579	chr22:16898919-16898920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs145527211	chr22:16898921-16898922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs4010540	chr22:16898935-16898936	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs62220623	chr22:16898940-16898941	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs4496407	chr22:16898944-16898945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs377129542	chr22:16898959-16898960	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs528368597	chr22:16898961-16898962	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs4010541	chr22:16898981-16898982	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs546878606	chr22:16898986-16898987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs564875150	chr22:16898991-16898992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs532114712	chr22:16898994-16898995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs12168803	chr22:16898996-16898997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs7285448	chr22:16899004-16899005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs568841089	chr22:16899025-16899026	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs62220624	chr22:16899028-16899029	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:217)

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	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Epilepsy	20923578	CNVD
Acute lymphoblastic leukemia	19100363	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	17142309	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22591714	CNVD
Autism	22958593	CNVD
Digeorge syndrome	16199537	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22241247	CNVD
Autism	22241247	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	18628472	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian neoplasms	16753589	CNVD
Schizophrenia	21399695	CNVD
22q11.21 microdeletion syndrome	19193630	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
Schizophrenia	19197363	CNVD
Esophageal cancer	21851588	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20388499	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Schizophrenia	18511947	CNVD
Autism	18522746	CNVD
Breast cancer	20409316	CNVD
aortic dissecting aneurysms	22263138	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:16904200-16904600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:16904200-16904600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:16904200-16904600	ZNF genes & repeats	Right Atrium	heart
4	chr22:16959000-16959200	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:16959000-16959200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:16959000-16959200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
7	chr22:16959000-16959200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
8	chr22:16959000-16959200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
9	chr22:16959000-16959200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:16959000-16959200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
11	chr22:16959000-16959200	ZNF genes & repeats	Colon Smooth Muscle	Colon
12	chr22:16959000-16959200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr22:16959000-16959200	ZNF genes & repeats	Esophagus	oesophagus
14	chr22:16959000-16959200	ZNF genes & repeats	Gastric	stomach
15	chr22:16959000-16959200	Enhancers	Left Ventricle	heart
16	chr22:16959000-16959200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
17	chr22:16959000-16959200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
18	chr22:16959000-16959200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
19	chr22:16959000-16959200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
20	chr22:16959000-16959200	Enhancers	Thymus	Thymus
21	chr22:16959200-16959600	Weak transcription	Gastric	stomach
22	chr22:16994800-16995000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:17000600-17001600	Enhancers	Placenta	Placenta
24	chr22:17001000-17001200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:17001000-17001200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:17001000-17001200	Enhancers	Adipose Nuclei	Adipose
27	chr22:17001000-17001400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:17001000-17001400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr22:17001000-17001600	Active TSS	Fetal Brain Female	brain
30	chr22:17001000-17001800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:17001000-17001800	ZNF genes & repeats	Right Atrium	heart
32	chr22:17001200-17001400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:17001200-17001400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:17001400-17001600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:17001400-17001600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:17001600-17001800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:17001600-17001800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:17001600-17002000	Flanking Active TSS	Placenta	Placenta
39	chr22:17001800-17002000	Strong transcription	Right Atrium	heart
40	chr22:17002000-17039200	Weak transcription	Right Atrium	heart
41	chr22:17007800-17008800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:17012600-17013200	Enhancers	Spleen	Spleen
43	chr22:17023600-17025000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:17024000-17024600	Enhancers	K562	blood
45	chr22:17024600-17025000	Bivalent Enhancer	K562	blood
46	chr22:17030600-17031000	Enhancers	K562	blood
47	chr22:17038200-17038800	Enhancers	K562	blood
48	chr22:17038200-17042600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:17038800-17042000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr22:17039000-17039800	Enhancers	Placenta	Placenta

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