Variant report

Variant	nsv588885
Chromosome Location	chr22:30661184-30691631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1560)
CpG islands
(count:1468)
Chromatin interactive
region (count:69)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1560 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:30684227-30684319	K562	blood:	n/a	n/a
2	ARID3A	chr22:30683737-30684306	HepG2	liver:	n/a	n/a
3	ATF1	chr22:30666825-30667142	K562	blood:	n/a	chr22:30666957-30666971 chr22:30667089-30667103
4	ATF1	chr22:30671732-30671984	K562	blood:	n/a	n/a
5	ATF2	chr22:30683678-30684354	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr22:30683699-30683997	GM12878	blood:	n/a	n/a
7	ATF2	chr22:30683703-30684161	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr22:30661727-30662503	GM12878	blood:	n/a	n/a
9	ATF2	chr22:30661824-30662480	GM12878	blood:	n/a	n/a
10	ATF3	chr22:30683821-30683985	K562	blood:	n/a	n/a
11	BACH1	chr22:30690477-30690565	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr22:30666954-30667008	K562	blood:	n/a	n/a
13	BACH1	chr22:30682869-30683165	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr22:30685738-30685885	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr22:30683752-30684018	GM12878	blood:	n/a	n/a
16	BCL3	chr22:30685237-30686243	GM12878	blood:	n/a	chr22:30685602-30685615 chr22:30685546-30685555 chr22:30685541-30685554 chr22:30685543-30685552 chr22:30685260-30685273 chr22:30685580-30685593 chr22:30685254-30685267 chr22:30685598-30685611
17	BCLAF1	chr22:30683590-30684087	GM12878	blood:	n/a	n/a
18	BCLAF1	chr22:30683659-30684068	GM12878	blood:	n/a	n/a
19	BHLHE40	chr22:30683809-30684241	K562	blood:	n/a	chr22:30684090-30684106
20	BHLHE40	chr22:30666787-30667127	K562	blood:	n/a	n/a
21	BHLHE40	chr22:30663214-30663422	GM12878	blood:	n/a	n/a
22	BHLHE40	chr22:30683778-30684287	GM12878	blood:	n/a	chr22:30684090-30684106
23	BHLHE40	chr22:30683333-30683538	K562	blood:	n/a	n/a
24	BHLHE40	chr22:30685448-30685938	GM12878	blood:	n/a	chr22:30685621-30685637
25	BHLHE40	chr22:30661875-30662439	GM12878	blood:	n/a	n/a
26	BHLHE40	chr22:30685529-30685711	K562	blood:	n/a	chr22:30685621-30685637
27	BHLHE40	chr22:30673513-30673700	K562	blood:	n/a	n/a
28	BRCA1	chr22:30682716-30682845	GM12878	blood:	n/a	n/a
29	CBX3	chr22:30683586-30684265	K562	blood:	n/a	n/a
30	CBX3	chr22:30683683-30684053	K562	blood:	n/a	n/a
31	CCNT2	chr22:30685318-30685922	K562	blood:	n/a	chr22:30685817-30685826
32	CCNT2	chr22:30684066-30684178	K562	blood:	n/a	n/a
33	CEBPB	chr22:30665672-30665704	HepG2	liver:	n/a	n/a
34	CEBPB	chr22:30671786-30671804	A549	lung:	n/a	n/a
35	CEBPB	chr22:30666851-30667191	IMR90	lung:	n/a	n/a
36	CEBPB	chr22:30669021-30669216	A549	lung:	n/a	n/a
37	CEBPB	chr22:30673044-30673461	IMR90	lung:	n/a	chr22:30673170-30673181
38	CEBPB	chr22:30661764-30662135	K562	blood:	n/a	chr22:30661944-30661955
39	CEBPB	chr22:30669107-30669508	HepG2	liver:	n/a	n/a
40	CEBPB	chr22:30661834-30661986	HepG2	liver:	n/a	chr22:30661944-30661955
41	CEBPB	chr22:30666852-30667163	K562	blood:	n/a	n/a
42	CEBPB	chr22:30661774-30662053	K562	blood:	n/a	chr22:30661944-30661955
43	CEBPB	chr22:30666871-30667155	HepG2	liver:	n/a	n/a
44	CEBPB	chr22:30661769-30662138	IMR90	lung:	n/a	chr22:30661944-30661955
45	CEBPB	chr22:30669052-30669323	K562	blood:	n/a	n/a
46	CEBPB	chr22:30661764-30662138	HepG2	liver:	n/a	chr22:30661944-30661955
47	CEBPB	chr22:30661800-30662280	A549	lung:	n/a	chr22:30661944-30661955
48	CEBPB	chr22:30665671-30665763	K562	blood:	n/a	n/a
49	CEBPB	chr22:30675537-30675682	HepG2	liver:	n/a	chr22:30675544-30675561 chr22:30675547-30675560 chr22:30675547-30675558
50	CEBPB	chr22:30673109-30673444	HepG2	liver:	n/a	chr22:30673170-30673181

(count:1468 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30663034-30663084	MCF-7	breast:	n/a
2	chr22:30681445-30681495	H1-hESC	embryonic stem cell:	embryo
3	chr22:30685664-30685714	BE2_C	brain:	n/a
4	chr22:30662987-30663037	HCF	heart:	n/a
5	chr22:30663034-30663084	MCF-7	breast:	n/a
6	chr22:30681445-30681495	H1-hESC	embryonic stem cell:	embryo
7	chr22:30685664-30685714	BE2_C	brain:	n/a
8	chr22:30662987-30663037	HCF	heart:	n/a
9	chr22:30685664-30685714	GM12891	blood:	n/a
10	chr22:30662994-30663044	GM12891	blood:	n/a
11	chr22:30663034-30663084	BE2_C	brain:	n/a
12	chr22:30685664-30685714	RPTEC	kidney:	n/a
13	chr22:30685664-30685714	IMR90	lung:	fetal
14	chr22:30663034-30663084	SKMC	muscle:	n/a
15	chr22:30685903-30685953	BJ	skin:	n/a
16	chr22:30663007-30663057	HCT-116	colon:	n/a
17	chr22:30663881-30663931	SKMC	muscle:	n/a
18	chr22:30685903-30685953	HCPEpiC	choroid plexus:	n/a
19	chr22:30685903-30685953	HL-60	blood:	n/a
20	chr22:30662874-30662924	Hepatocyte	liver:	n/a
21	chr22:30685584-30685634	SK-N-MC	brain:	n/a
22	chr22:30663034-30663084	NB4	blood:	n/a
23	chr22:30662994-30663044	ovcar-3	ovarian:	n/a
24	chr22:30681445-30681495	PrEC	prostate:	n/a
25	chr22:30685747-30685797	HPAEpiC	pulmonary alveolar:	n/a
26	chr22:30663041-30663091	Jurkat	blood:	n/a
27	chr22:30685747-30685797	MCF10A-Er-Src	breast:	n/a
28	chr22:30661949-30661999	HPAEpiC	pulmonary alveolar:	n/a
29	chr22:30663881-30663931	AG10803	skin:	n/a
30	chr22:30685271-30685321	NHDF-neo	bronchial:	n/a
31	chr22:30662972-30663022	H1-hESC	embryonic stem cell:	embryo
32	chr22:30685271-30685321	HPAEpiC	pulmonary alveolar:	n/a
33	chr22:30663881-30663931	LNCaP	prostate:	n/a
34	chr22:30662874-30662924	Jurkat	blood:	n/a
35	chr22:30661949-30661999	PANC-1	pancreas:	n/a
36	chr22:30681445-30681495	HEK293	kidney:	embryo
37	chr22:30685747-30685797	HRE	kidney:	n/a
38	chr22:30685666-30685716	SKMC	muscle:	n/a
39	chr22:30663881-30663931	GM19239	blood:	n/a
40	chr22:30663881-30663931	SAEC	small airway:	n/a
41	chr22:30663881-30663931	HL-60	blood:	n/a
42	chr22:30663034-30663084	Jurkat	blood:	n/a
43	chr22:30663881-30663931	ECC-1	luminal epithelium:	n/a
44	chr22:30685926-30685976	AG04450	lung:	fetal
45	chr22:30686808-30686858	Hepatocyte	liver:	n/a
46	chr22:30688338-30688388	K562	blood:	n/a
47	chr22:30662972-30663022	SK-N-SH	brain:	n/a
48	chr22:30663007-30663057	PANC-1	pancreas:	n/a
49	chr22:30663034-30663084	Hepatocyte	liver:	n/a
50	chr22:30662874-30662924	HNPCEpiC	eye:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:30682210..30683992-chr22:30781064..30783506,2	K562	blood:
2	chr22:30651748..30652706-chr22:30682379..30683051,3	MCF-7	breast:
3	chr22:30672847..30675715-chr22:30716721..30718257,2	MCF-7	breast:
4	chr22:30678673..30681539-chr22:30683281..30686944,4	MCF-7	breast:
5	chr22:30678315..30679993-chr22:30681733..30683243,2	MCF-7	breast:
6	chr22:30658496..30661192-chr22:30669328..30671945,2	K562	blood:
7	chr22:30671223..30673243-chr22:30676654..30678406,2	MCF-7	breast:
8	chr22:30678847..30680505-chr22:30720237..30722502,2	MCF-7	breast:
9	chr22:30684944..30687538-chr22:30739118..30741799,2	MCF-7	breast:
10	chr22:30671223..30673243-chr22:30676654..30678406,2	MCF-7	breast:
11	chr22:30673185..30675401-chr22:30678434..30680776,2	K562	blood:
12	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
13	chr22:30678315..30679993-chr22:30681733..30683243,2	MCF-7	breast:
14	chr22:30679348..30681690-chr22:30685966..30688546,2	K562	blood:
15	chr22:30660224..30662293-chr22:30672122..30673806,2	K562	blood:
16	chr22:30683315..30684641-chr22:30783196..30784353,5	MCF-7	breast:
17	chr22:30685629..30687266-chr22:30839148..30841021,2	K562	blood:
18	chr22:30678201..30680990-chr22:30691812..30693755,2	K562	blood:
19	chr22:30679226..30682000-chr22:30723679..30728534,4	K562	blood:
20	chr22:30662562..30664958-chr22:30672438..30674386,2	K562	blood:
21	chr22:30669034..30671997-chr22:30675026..30677407,2	K562	blood:
22	chr22:30673139..30674948-chr22:30681547..30684070,2	K562	blood:
23	chr22:30686791..30687342-chr22:30932110..30932929,2	MCF-7	breast:
24	chr22:30679955..30682000-chr22:30725118..30726971,2	K562	blood:
25	chr22:30674182..30675757-chr22:30685018..30686665,2	K562	blood:
26	chr22:30684219..30686932-chr22:30699973..30702656,2	MCF-7	breast:
27	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
28	chr22:30682051..30684043-chr22:30751437..30753247,3	MCF-7	breast:
29	chr22:30684150..30686115-chr22:30783000..30785215,3	K562	blood:
30	chr22:30669117..30672221-chr22:30681352..30684816,4	MCF-7	breast:
31	chr22:30680865..30682835-chr22:30784802..30787027,2	MCF-7	breast:
32	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
33	chr22:30683032..30685513-chr3:161089094..161092006,2	MCF-7	breast:
34	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
35	chr22:30671566..30674215-chr22:30702631..30704760,2	MCF-7	breast:
36	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
37	chr22:30658735..30661229-chr22:30678360..30682105,3	MCF-7	breast:
38	chr22:30673185..30675401-chr22:30678434..30680776,2	K562	blood:
39	chr22:30686895..30687732-chr22:30707081..30707981,2	MCF-7	breast:
40	chr22:30660277..30662001-chr22:30780639..30782477,2	MCF-7	breast:
41	chr22:30683337..30684429-chr22:30783040..30783917,8	MCF-7	breast:
42	chr22:30672832..30675261-chr22:30683468..30685627,2	MCF-7	breast:
43	chr22:30668087..30672476-chr22:30679635..30681942,4	K562	blood:
44	chr22:30686966..30689446-chr22:30691797..30694765,3	K562	blood:
45	chr22:30683831..30686273-chr22:30722432..30724567,2	K562	blood:
46	chr22:30640449..30642621-chr22:30686801..30689268,2	MCF-7	breast:
47	chr22:30679348..30681690-chr22:30685966..30688546,2	K562	blood:
48	chr22:30658496..30661192-chr22:30669328..30671945,2	K562	blood:
49	chr22:30665035..30667292-chr22:30681881..30686002,5	K562	blood:
50	chr22:30660837..30662614-chr22:30683520..30685637,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GATSL3-2	chr22:30671204-30672940	NONHSAT084762
2	lnc-CCDC157-3	chr22:30689344-30689401	NONHSAT084766

No data

Variant related genes	Relation type
OSM	TF binding region
TBC1D10A	TF binding region
GATSL3	TF binding region
OSM	CpG island
TBC1D10A	CpG island
GATSL3	CpG island
ENSG00000187860	chromatin interactions
ENSG00000242114	chromatin interactions
ENSG00000099985	chromatin interactions
ENSG00000099992	chromatin interactions
ENSG00000268812	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000248751	chromatin interactions
ENSG00000099999	chromatin interactions
ENSG00000099995	chromatin interactions
ENSG00000239282	chromatin interactions

Extended variants
information (count: 1215 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1215 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5763918	chr22:30661184-30661185	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534231973	chr22:30661188-30661189	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs555452005	chr22:30661259-30661260	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs567622088	chr22:30661260-30661261	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs537763268	chr22:30661279-30661280	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs569183955	chr22:30661318-30661319	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs555995792	chr22:30661387-30661388	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111531442	chr22:30661388-30661389	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs75608206	chr22:30661431-30661432	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185331715	chr22:30661456-30661457	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs78568412	chr22:30661480-30661481	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150304085	chr22:30661495-30661496	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs114867272	chr22:30661505-30661506	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs137966928	chr22:30661527-30661528	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs574939304	chr22:30661547-30661548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs143543548	chr22:30661583-30661584	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs147182564	chr22:30661621-30661622	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563171266	chr22:30661646-30661647	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191218647	chr22:30661674-30661675	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs138834416	chr22:30661690-30661691	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs6518684	chr22:30661708-30661709	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560594723	chr22:30661724-30661725	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs527802386	chr22:30661767-30661768	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549421395	chr22:30661809-30661810	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567558656	chr22:30661880-30661881	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs538237910	chr22:30661884-30661885	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs576919102	chr22:30661900-30661901	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs549708060	chr22:30661911-30661912	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs376539083	chr22:30661918-30661919	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs545793609	chr22:30661919-30661920	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs114266924	chr22:30661945-30661946	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs572172366	chr22:30661995-30661996	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs145201326	chr22:30662022-30662023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs535974271	chr22:30662038-30662039	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs554603418	chr22:30662073-30662074	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs576001185	chr22:30662103-30662104	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370101533	chr22:30662134-30662135	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs543432470	chr22:30662135-30662136	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs118079054	chr22:30662139-30662140	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs562502328	chr22:30662183-30662184	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs545687115	chr22:30662239-30662240	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182606085	chr22:30662245-30662246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142841542	chr22:30662250-30662251	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs549210332	chr22:30662273-30662274	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs561428264	chr22:30662274-30662275	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs531632877	chr22:30662378-30662379	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549745023	chr22:30662379-30662380	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs78037549	chr22:30662411-30662412	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536878567	chr22:30662449-30662450	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148490924	chr22:30662529-30662530	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Hodgkin''s lymphoma	17606441	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
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:1796 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30650000-30661400	Weak transcription	GM12878-XiMat	blood
2	chr22:30654600-30661600	Weak transcription	Thymus	Thymus
3	chr22:30656200-30662000	Enhancers	Primary hematopoietic stem cells	blood
4	chr22:30656800-30661800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr22:30658200-30661400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr22:30658200-30665200	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr22:30658400-30661400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:30658400-30661400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr22:30659200-30661200	Weak transcription	Primary T cells from cord blood	blood
10	chr22:30659200-30661400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
11	chr22:30659400-30661200	Enhancers	Primary B cells from cord blood	blood
12	chr22:30659400-30661400	Weak transcription	K562	blood
13	chr22:30659400-30661600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr22:30659400-30661600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:30659400-30661800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:30659400-30662000	Weak transcription	Liver	Liver
17	chr22:30659400-30662000	Weak transcription	Brain Anterior Caudate	brain
18	chr22:30659400-30662000	Weak transcription	Brain Hippocampus Middle	brain
19	chr22:30659400-30662000	Weak transcription	Fetal Intestine Large	intestine
20	chr22:30659400-30662200	Weak transcription	Brain Substantia Nigra	brain
21	chr22:30659400-30662600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:30659400-30663200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:30659600-30661200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr22:30659600-30661200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr22:30659600-30661200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr22:30659600-30661400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr22:30659600-30661400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr22:30659600-30661400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr22:30659600-30661800	Weak transcription	Colonic Mucosa	Colon
30	chr22:30659600-30661800	Weak transcription	Esophagus	oesophagus
31	chr22:30659600-30662000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:30659600-30662000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr22:30659600-30662200	Weak transcription	Pancreas	Pancrea
34	chr22:30659600-30663000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:30659600-30673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:30659800-30661200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
37	chr22:30659800-30661200	Weak transcription	Placenta	Placenta
38	chr22:30659800-30661400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr22:30659800-30661600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr22:30659800-30662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:30659800-30662400	Weak transcription	Fetal Intestine Small	intestine
42	chr22:30660000-30661200	Weak transcription	A549	lung
43	chr22:30660000-30662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:30660400-30661200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:30660400-30661400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr22:30660600-30661400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr22:30660600-30661600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr22:30660600-30661600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr22:30660600-30661800	Weak transcription	Gastric	stomach
50	chr22:30660800-30661200	Enhancers	Monocytes-CD14+_RO01746	blood

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