Variant report

Variant	esv3423985
Chromosome Location	chr11:75061529-75064077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:716)
CpG islands
(count:366)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:75063572-75063891	K562	blood:	n/a	n/a
2	ARID3A	chr11:75063293-75063623	HepG2	liver:	n/a	n/a
3	ATF3	chr11:75062479-75062768	K562	blood:	n/a	chr11:75062678-75062692
4	BACH1	chr11:75061793-75062599	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:75062819-75063623	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr11:75062756-75063244	A549	lung:	n/a	chr11:75062935-75062948
7	BHLHE40	chr11:75062797-75063297	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:75061779-75063645	K562	blood:	n/a	chr11:75061927-75061943 chr11:75062400-75062416 chr11:75063455-75063471
9	BHLHE40	chr11:75061839-75062470	GM12878	blood:	n/a	chr11:75061927-75061943 chr11:75062400-75062416
10	BRCA1	chr11:75063471-75063502	HepG2	liver:	n/a	n/a
11	CBX3	chr11:75061720-75062792	K562	blood:	n/a	n/a
12	CBX3	chr11:75062799-75063732	K562	blood:	n/a	n/a
13	CCNT2	chr11:75062211-75063620	K562	blood:	n/a	chr11:75062986-75062995 chr11:75063348-75063357
14	CEBPB	chr11:75063190-75063300	K562	blood:	n/a	n/a
15	CEBPD	chr11:75063177-75063653	K562	blood:	n/a	n/a
16	CEBPD	chr11:75062828-75063622	HepG2	liver:	n/a	n/a
17	CHD1	chr11:75063530-75063669	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr11:75062932-75063120	GM12878	blood:	n/a	n/a
19	CHD2	chr11:75061908-75062025	HepG2	liver:	n/a	n/a
20	CHD2	chr11:75062809-75063518	GM12878	blood:	n/a	n/a
21	CHD2	chr11:75062628-75063033	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr11:75063411-75063513	HepG2	liver:	n/a	n/a
23	CHD2	chr11:75062923-75063130	HepG2	liver:	n/a	n/a
24	CHD2	chr11:75062304-75063578	K562	blood:	n/a	n/a
25	CHD2	chr11:75062534-75062661	HepG2	liver:	n/a	n/a
26	CHD2	chr11:75061941-75062562	GM12878	blood:	n/a	n/a
27	CHD2	chr11:75063287-75063622	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr11:75062095-75063413	A549	lung:	n/a	n/a
29	CREB1	chr11:75062027-75063172	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr11:75061754-75063276	K562	blood:	n/a	n/a
31	CTBP2	chr11:75061720-75063688	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr11:75063400-75063550	A549	lung:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
33	CTCF	chr11:75061807-75061956	GM12878	blood:	n/a	n/a
34	CTCF	chr11:75063420-75063570	HMF	breast:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
35	CTCF	chr11:75063360-75063510	HepG2	liver:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
36	CTCF	chr11:75062626-75062758	Hela-S3	cervix:	n/a	chr11:75062708-75062726 chr11:75062711-75062724
37	CTCF	chr11:75063400-75063550	GM12871	blood:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
38	CTCF	chr11:75063280-75063430	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr11:75063340-75063490	AG09309	skin:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
40	CTCF	chr11:75061820-75061970	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr11:75061780-75061930	NB4	blood:	n/a	n/a
42	CTCF	chr11:75063380-75063530	Caco-2	colon:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
43	CTCF	chr11:75063280-75063584	HepG2	liver:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
44	CTCF	chr11:75062090-75062304	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:75062600-75062750	AG09319	gingival:	n/a	chr11:75062708-75062726 chr11:75062711-75062724
46	CTCF	chr11:75061800-75061950	Caco-2	colon:	n/a	n/a
47	CTCF	chr11:75063382-75063525	H1-hESC	embryonic stem cell:	n/a	chr11:75063462-75063471 chr11:75063459-75063477
48	CTCF	chr11:75061780-75061930	GM12871	blood:	n/a	n/a
49	CTCF	chr11:75061689-75061985	HepG2	liver:	n/a	n/a
50	CTCF	chr11:75061880-75062030	SAEC	small airway:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:75063913-75063963	GM12892	blood:	n/a
2	chr11:75062225-75062275	K562	blood:	n/a
3	chr11:75063569-75063619	AG09309	skin:	n/a
4	chr11:75061838-75061888	BJ	skin:	n/a
5	chr11:75063569-75063619	IMR90	lung:	fetal
6	chr11:75061838-75061888	ovcar-3	ovarian:	n/a
7	chr11:75062600-75062650	Caco-2	colon:	n/a
8	chr11:75062225-75062275	HL-60	blood:	n/a
9	chr11:75063913-75063963	HCT-116	colon:	n/a
10	chr11:75062225-75062275	AG04449	skin:	fetal
11	chr11:75063913-75063963	HRE	kidney:	n/a
12	chr11:75062225-75062275	HCF	heart:	n/a
13	chr11:75063913-75063963	A549	lung:	n/a
14	chr11:75062600-75062650	ProgFib	skin:	n/a
15	chr11:75063569-75063619	Hela-S3	cervix:	n/a
16	chr11:75062225-75062275	GM19239	blood:	n/a
17	chr11:75062600-75062650	GM12878	blood:	n/a
18	chr11:75063913-75063963	GM06990	blood:	n/a
19	chr11:75061838-75061888	HEEpiC	esophagus:	n/a
20	chr11:75063913-75063963	HRPEpiC	eye:	n/a
21	chr11:75061838-75061888	K562	blood:	n/a
22	chr11:75063569-75063619	LNCaP	prostate:	n/a
23	chr11:75063913-75063963	AG10803	skin:	n/a
24	chr11:75063246-75063296	HAEpiC	amniotic membrane:	n/a
25	chr11:75062225-75062275	NHBE	bronchial:	n/a
26	chr11:75063246-75063296	HCM	heart:	n/a
27	chr11:75062225-75062275	GM12878	blood:	n/a
28	chr11:75063913-75063963	ProgFib	skin:	n/a
29	chr11:75063569-75063619	HepG2	liver:	n/a
30	chr11:75062600-75062650	NB4	blood:	n/a
31	chr11:75062225-75062275	Hela-S3	cervix:	n/a
32	chr11:75063913-75063963	HEK293	kidney:	embryo
33	chr11:75063913-75063963	H1-hESC	embryonic stem cell:	embryo
34	chr11:75063913-75063963	AG04449	skin:	fetal
35	chr11:75063569-75063619	AG04449	skin:	fetal
36	chr11:75063246-75063296	U87	brain:	n/a
37	chr11:75062225-75062275	PANC-1	pancreas:	n/a
38	chr11:75063246-75063296	AG04449	skin:	fetal
39	chr11:75063569-75063619	HIPEpiC	eye:	n/a
40	chr11:75062225-75062275	SK-N-MC	brain:	n/a
41	chr11:75063569-75063619	Hepatocyte	liver:	n/a
42	chr11:75063569-75063619	HNPCEpiC	eye:	n/a
43	chr11:75061838-75061888	SAEC	small airway:	n/a
44	chr11:75061838-75061888	SK-N-MC	brain:	n/a
45	chr11:75062225-75062275	NH-A	brain:	n/a
46	chr11:75063569-75063619	HRE	kidney:	n/a
47	chr11:75062600-75062650	GM19239	blood:	n/a
48	chr11:75062600-75062650	HMEC	breast:	n/a
49	chr11:75061838-75061888	BE2_C	brain:	n/a
50	chr11:75063246-75063296	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:75061780..75064300-chr11:75109349..75111939,3	MCF-7	breast:
2	chr11:75063194..75065749-chr11:75140167..75143127,2	MCF-7	breast:
3	chr11:75039534..75040119-chr11:75061306..75062290,2	MCF-7	breast:
4	chr11:75061972..75065288-chr11:75110522..75113942,5	K562	blood:
5	chr11:75063188..75064014-chr11:124823671..124824309,2	HCT-116	colon:
6	chr11:75043210..75047420-chr11:75061230..75064804,5	MCF-7	breast:

No data

Variant related genes	Relation type
ARRB1	TF binding region
ARRB1	CpG island
ENSG00000149273	chromatin interactions
ENSG00000206941	chromatin interactions
ENSG00000149548	chromatin interactions
ENSG00000199090	chromatin interactions
ENSG00000149243	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560222650	chr11:75061533-75061534	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532081726	chr11:75061572-75061573	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368671902	chr11:75061585-75061586	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374505574	chr11:75061699-75061700	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143720836	chr11:75061700-75061701	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538438495	chr11:75061705-75061706	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141376514	chr11:75061729-75061730	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145789574	chr11:75061777-75061778	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568754147	chr11:75061789-75061790	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs532499434	chr11:75061833-75061834	Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs534209818	chr11:75061846-75061847	Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs547869992	chr11:75061863-75061864	Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs553850872	chr11:75061914-75061915	Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs187582656	chr11:75061930-75061931	Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs374228246	chr11:75061932-75061933	Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs577280627	chr11:75061980-75061981	Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs539505226	chr11:75061984-75061985	Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs558722715	chr11:75062012-75062013	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs189998614	chr11:75062036-75062037	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs543994767	chr11:75062094-75062095	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs560884460	chr11:75062113-75062114	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs79950403	chr11:75062127-75062128	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs527468298	chr11:75062134-75062135	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs2510894	chr11:75062178-75062179	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148983627	chr11:75062182-75062183	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs183308351	chr11:75062189-75062190	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs187997210	chr11:75062201-75062202	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs562594571	chr11:75062202-75062203	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs531468996	chr11:75062210-75062211	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs548777962	chr11:75062219-75062220	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs568790790	chr11:75062273-75062274	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs534458055	chr11:75062289-75062290	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs547776914	chr11:75062304-75062305	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs2507924	chr11:75062337-75062338	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs570706901	chr11:75062347-75062348	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs192579986	chr11:75062363-75062364	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs556425897	chr11:75062371-75062372	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs569801637	chr11:75062411-75062412	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs537680620	chr11:75062424-75062425	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs200113678	chr11:75062431-75062432	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs34867163	chr11:75062547-75062548	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574408251	chr11:75062572-75062573	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs540115174	chr11:75062615-75062616	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs554031145	chr11:75062693-75062694	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs34386985	chr11:75062736-75062737	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs35382855	chr11:75062783-75062784	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562598242	chr11:75062786-75062787	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs188678299	chr11:75062798-75062799	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs542456463	chr11:75062844-75062845	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs369726367	chr11:75062889-75062890	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75046800-75061600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr11:75048000-75061600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr11:75052400-75061800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:75053400-75061600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:75054600-75062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:75055600-75061800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:75056000-75061600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:75056200-75062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:75056600-75061800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr11:75057200-75062000	Enhancers	Fetal Heart	heart
11	chr11:75057400-75061800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:75057400-75061800	Enhancers	NHDF-Ad	bronchial
13	chr11:75057600-75062600	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:75057800-75061600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:75057800-75061600	Enhancers	NHLF	lung
16	chr11:75058000-75061600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:75058600-75062000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:75059200-75061800	Weak transcription	Fetal Kidney	kidney
19	chr11:75059400-75061600	Enhancers	Small Intestine	intestine
20	chr11:75059400-75061800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:75059400-75061800	Weak transcription	HMEC	breast
22	chr11:75059400-75062200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:75059600-75061600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:75059600-75061800	Weak transcription	NH-A	brain
25	chr11:75059800-75061800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:75059800-75062000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:75060000-75062200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr11:75060000-75062400	Flanking Active TSS	HepG2	liver
29	chr11:75060000-75062600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr11:75060200-75061600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr11:75060200-75061800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:75060200-75061800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:75060200-75061800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:75060200-75061800	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr11:75060200-75061800	Enhancers	Psoas Muscle	Psoas
36	chr11:75060200-75061800	Weak transcription	Osteobl	bone
37	chr11:75060200-75062200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:75060200-75062400	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr11:75060200-75062400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr11:75060200-75062400	Flanking Active TSS	Fetal Brain Female	brain
41	chr11:75060200-75062600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:75060400-75061800	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr11:75060400-75061800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:75060400-75062000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
45	chr11:75060400-75062200	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr11:75060400-75062200	Flanking Active TSS	HUVEC	blood vessel
47	chr11:75060400-75062400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr11:75060400-75062400	Flanking Active TSS	Hela-S3	cervix
49	chr11:75060400-75062400	Flanking Active TSS	K562	blood
50	chr11:75060400-75062600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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