Variant report

Variant	nsv829089
Chromosome Location	chr22:23243444-23263541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:395)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23258750-23259076	HepG2	liver:	n/a	n/a
2	ATF1	chr22:23252055-23252437	K562	blood:	n/a	n/a
3	ATF1	chr22:23262737-23263489	K562	blood:	n/a	n/a
4	ATF1	chr22:23253446-23253456	K562	blood:	n/a	n/a
5	ATF1	chr22:23254917-23254918	K562	blood:	n/a	n/a
6	ATF1	chr22:23251232-23251667	K562	blood:	n/a	n/a
7	ATF1	chr22:23249632-23250275	K562	blood:	n/a	n/a
8	ATF1	chr22:23246000-23246189	K562	blood:	n/a	n/a
9	ATF2	chr22:23243571-23245290	GM12878	blood:	n/a	n/a
10	ATF2	chr22:23243556-23245167	GM12878	blood:	n/a	n/a
11	ATF2	chr22:23248892-23250514	GM12878	blood:	n/a	n/a
12	ATF2	chr22:23248930-23250295	GM12878	blood:	n/a	n/a
13	ATF2	chr22:23245204-23245644	GM12878	blood:	n/a	n/a
14	BACH1	chr22:23261304-23261342	K562	blood:	n/a	n/a
15	BACH1	chr22:23259715-23259720	K562	blood:	n/a	n/a
16	BATF	chr22:23248534-23248947	GM12878	blood:	n/a	n/a
17	BATF	chr22:23243646-23244483	GM12878	blood:	n/a	n/a
18	BATF	chr22:23247193-23247431	GM12878	blood:	n/a	n/a
19	BATF	chr22:23243142-23243591	GM12878	blood:	n/a	n/a
20	BCL11A	chr22:23242268-23244947	GM12878	blood:	n/a	chr22:23242977-23242985 chr22:23243734-23243743
21	BCL11A	chr22:23248409-23248799	GM12878	blood:	n/a	n/a
22	BCL11A	chr22:23243599-23244409	GM12878	blood:	n/a	chr22:23243734-23243743
23	BCL11A	chr22:23247178-23247521	GM12878	blood:	n/a	n/a
24	BCL11A	chr22:23247624-23250417	GM12878	blood:	n/a	chr22:23248333-23248341
25	BCL3	chr22:23248947-23250094	GM12878	blood:	n/a	n/a
26	BCL3	chr22:23243564-23244867	GM12878	blood:	n/a	chr22:23243734-23243743
27	BCL3	chr22:23243550-23244863	GM12878	blood:	n/a	chr22:23243734-23243743
28	BCL3	chr22:23248989-23250139	GM12878	blood:	n/a	n/a
29	BCLAF1	chr22:23243562-23245335	GM12878	blood:	n/a	chr22:23243734-23243743
30	BCLAF1	chr22:23247293-23247606	GM12878	blood:	n/a	n/a
31	BCLAF1	chr22:23248919-23250395	GM12878	blood:	n/a	n/a
32	BCLAF1	chr22:23243527-23245345	GM12878	blood:	n/a	chr22:23243734-23243743
33	BCLAF1	chr22:23247264-23247668	GM12878	blood:	n/a	n/a
34	BCLAF1	chr22:23248885-23250608	GM12878	blood:	n/a	n/a
35	BHLHE40	chr22:23249132-23249300	GM12878	blood:	n/a	n/a
36	BHLHE40	chr22:23258770-23259136	HepG2	liver:	n/a	n/a
37	BHLHE40	chr22:23263078-23263135	K562	blood:	n/a	n/a
38	BRCA1	chr22:23244811-23244904	HepG2	liver:	n/a	n/a
39	BRCA1	chr22:23256178-23256216	GM12878	blood:	n/a	n/a
40	CEBPB	chr22:23245763-23246032	K562	blood:	n/a	chr22:23245883-23245896 chr22:23245880-23245897 chr22:23245883-23245894
41	CEBPB	chr22:23249424-23250035	GM12878	blood:	n/a	n/a
42	CEBPB	chr22:23242454-23244969	GM12878	blood:	n/a	chr22:23242713-23242730 chr22:23244530-23244547
43	CEBPB	chr22:23245712-23246025	HepG2	liver:	n/a	chr22:23245883-23245896 chr22:23245880-23245897 chr22:23245883-23245894
44	CEBPB	chr22:23248460-23250279	GM12878	blood:	n/a	n/a
45	CEBPB	chr22:23244155-23244504	GM12878	blood:	n/a	n/a
46	CEBPB	chr22:23247129-23247730	GM12878	blood:	n/a	n/a
47	CHD2	chr22:23243690-23245351	GM12878	blood:	n/a	n/a
48	CHD2	chr22:23243803-23244137	HepG2	liver:	n/a	n/a
49	CHD2	chr22:23244751-23244945	HepG2	liver:	n/a	n/a
50	CHD2	chr22:23261248-23261265	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23245468..23247565-chr22:23249258..23251335,3	K562	blood:
2	chr22:23248970..23251030-chr22:23266059..23268328,2	K562	blood:
3	chr22:23251853..23252558-chr22:23295506..23296354,3	MCF-7	breast:
4	chr22:23234328..23239223-chr22:23249114..23253993,6	K562	blood:
5	chr22:23258107..23260177-chr22:23268082..23270661,2	K562	blood:
6	chr22:23230851..23232657-chr22:23258084..23260097,2	K562	blood:
7	chr22:23249460..23256264-chr22:23263399..23267410,8	K562	blood:
8	chr22:23237456..23241868-chr22:23242613..23249057,9	K562	blood:
9	chr22:23261117..23263641-chr22:23264707..23267231,3	K562	blood:
10	chr22:23237287..23240210-chr22:23254703..23257164,2	K562	blood:
11	chr22:23211923..23213773-chr22:23255638..23258101,2	K562	blood:
12	chr22:23249788..23251920-chr22:23270655..23273406,3	K562	blood:
13	chr22:23246871..23249530-chr22:23253643..23256082,2	K562	blood:
14	chr22:23152432..23153103-chr22:23254207..23254852,2	K562	blood:
15	chr22:23236796..23239209-chr22:23258890..23261514,2	K562	blood:
16	chr22:23249849..23250456-chr22:23284637..23285518,2	K562	blood:
17	chr22:23249460..23256264-chr22:23263399..23267410,8	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTDR1-1	chr22:23248506-23248831	NONHSAT083775
2	lnc-D87017.1-2	chr22:23257805-23258097	NONHSAT083836
3	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835
4	lnc-RTDR1-4	chr22:23261700-23261973	NONHSAT083834
5	lnc-RTDR1-4	chr22:23262147-23262154	NONHSAT083834
6	lnc-RTDR1-4	chr22:23243491-23243570	NONHSAT083834

No data

Variant related genes	Relation type
IGLJ5	TF binding region
IGLC7	TF binding region
IGLJ7	TF binding region
IGLJ6	TF binding region
IGLJ4	TF binding region
IGLC4	TF binding region
IGLC5	TF binding region
IGLJ3	TF binding region
IGLC3	TF binding region
IGLC6	TF binding region
ENSG00000211678	chromatin interactions
ENSG00000254029	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000211685	chromatin interactions
ENSG00000211676	chromatin interactions

Extended variants
information (count: 1187 )
Associated
traits (count: 216 )

Variant overlapped rSNPs/rCNVs (count:1187 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533359966	chr22:23243446-23243447	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs16994643	chr22:23243481-23243482	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113220871	chr22:23243483-23243484	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs569926240	chr22:23243490-23243491	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs386820016	chr22:23243496-23243497	Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs192575573	chr22:23243497-23243498	Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs549287808	chr22:23243498-23243499	Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs565914880	chr22:23243517-23243518	Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs535052104	chr22:23243520-23243521	Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs557961658	chr22:23243562-23243563	Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs578082668	chr22:23243596-23243597	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs537544000	chr22:23243611-23243612	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs557150823	chr22:23243616-23243617	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs573894875	chr22:23243632-23243633	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs542912808	chr22:23243651-23243652	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs150161362	chr22:23243658-23243659	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs572743180	chr22:23243660-23243661	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs436254	chr22:23243668-23243669	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs564732373	chr22:23243679-23243680	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs530589618	chr22:23243691-23243692	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs550278365	chr22:23243692-23243693	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs145660260	chr22:23243696-23243697	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs373326845	chr22:23243697-23243698	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs541897859	chr22:23243776-23243777	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs549250882	chr22:23243778-23243779	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs530947496	chr22:23243779-23243780	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs560780980	chr22:23243821-23243822	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs534705582	chr22:23243823-23243824	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs551706504	chr22:23243837-23243838	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs544749980	chr22:23243840-23243841	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs529802215	chr22:23243863-23243864	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs571558483	chr22:23243864-23243865	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs117033021	chr22:23243869-23243870	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs4822337	chr22:23243877-23243878	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143470375	chr22:23243891-23243892	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs137884440	chr22:23243910-23243911	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs190167190	chr22:23243911-23243912	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs573048808	chr22:23243953-23243954	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs182480053	chr22:23243960-23243961	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs4822338	chr22:23243979-23243980	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs552190507	chr22:23243996-23243997	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs558494250	chr22:23244003-23244004	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs574915495	chr22:23244005-23244006	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs4822339	chr22:23244065-23244066	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560685410	chr22:23244105-23244106	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs529436268	chr22:23244136-23244137	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs537975936	chr22:23244146-23244147	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs542858454	chr22:23244168-23244169	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs144688558	chr22:23244171-23244172	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs5759512	chr22:23244205-23244206	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:216)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	17989066	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23237800-23245600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:23239800-23243800	Weak transcription	Right Atrium	heart
3	chr22:23240600-23243600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr22:23240600-23243800	Weak transcription	HSMMtube	muscle
5	chr22:23241200-23243600	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:23241200-23243800	Weak transcription	Dnd41	blood
7	chr22:23241200-23244600	Weak transcription	HSMM	muscle
8	chr22:23241800-23243800	Active TSS	GM12878-XiMat	blood
9	chr22:23242200-23243600	Weak transcription	Primary B cells from cord blood	blood
10	chr22:23243200-23243600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr22:23243600-23243800	Enhancers	Fetal Muscle Trunk	muscle
12	chr22:23243600-23243800	Enhancers	Fetal Muscle Leg	muscle
13	chr22:23243600-23244600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
14	chr22:23243600-23244800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
15	chr22:23243800-23244200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
16	chr22:23243800-23245000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:23243800-23245000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
18	chr22:23243800-23245800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr22:23243800-23245800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr22:23243800-23246000	Enhancers	HSMMtube	muscle
21	chr22:23243800-23247400	Strong transcription	Right Atrium	heart
22	chr22:23243800-23247600	Enhancers	Dnd41	blood
23	chr22:23244000-23245000	Bivalent Enhancer	Small Intestine	intestine
24	chr22:23244000-23245000	Enhancers	Stomach Smooth Muscle	stomach
25	chr22:23244200-23244400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:23244200-23244400	Bivalent Enhancer	Fetal Lung	lung
27	chr22:23244200-23244600	Flanking Active TSS	GM12878-XiMat	blood
28	chr22:23244200-23245200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr22:23244400-23246000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr22:23244400-23246000	Enhancers	Fetal Lung	lung
31	chr22:23244600-23244800	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr22:23244600-23244800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr22:23244600-23246000	Enhancers	Fetal Stomach	stomach
34	chr22:23244600-23246000	Enhancers	HSMM	muscle
35	chr22:23244600-23247000	Enhancers	GM12878-XiMat	blood
36	chr22:23244800-23245200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr22:23244800-23245400	Genic enhancers	Primary B cells from cord blood	blood
38	chr22:23244800-23245400	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr22:23245000-23246800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr22:23245400-23246000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr22:23245400-23246800	Enhancers	Primary B cells from peripheral blood	blood
42	chr22:23245400-23247200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr22:23245600-23245800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:23245600-23246000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:23245800-23246000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr22:23245800-23246000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr22:23245800-23247200	Enhancers	Fetal Muscle Trunk	muscle
48	chr22:23245800-23247400	Enhancers	Fetal Muscle Leg	muscle
49	chr22:23246000-23246800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr22:23246000-23246800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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