Variant report

Variant	nsv527920
Chromosome Location	chr11:8816695-8856822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:895)
CpG islands
(count:1161)
Chromatin interactive
region (count:42)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:8847689-8848415	K562	blood:	n/a	n/a
2	ARID3A	chr11:8816236-8816720	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:8850892-8850902	K562	blood:	n/a	n/a
4	ATF1	chr11:8847948-8848405	K562	blood:	n/a	n/a
5	ATF1	chr11:8835699-8836199	K562	blood:	n/a	n/a
6	ATF1	chr11:8848762-8849188	K562	blood:	n/a	n/a
7	ATF2	chr11:8831655-8832480	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr11:8831752-8832395	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr11:8854357-8854917	GM12878	blood:	n/a	n/a
10	ATF2	chr11:8847555-8848137	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr11:8847982-8848338	K562	blood:	n/a	n/a
12	BACH1	chr11:8831988-8832339	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCLAF1	chr11:8835148-8835490	GM12878	blood:	n/a	n/a
14	BHLHE40	chr11:8848849-8849188	K562	blood:	n/a	n/a
15	BHLHE40	chr11:8835141-8835508	K562	blood:	n/a	n/a
16	BHLHE40	chr11:8835775-8836105	K562	blood:	n/a	n/a
17	BHLHE40	chr11:8850621-8850943	K562	blood:	n/a	n/a
18	BHLHE40	chr11:8847725-8847996	K562	blood:	n/a	n/a
19	BHLHE40	chr11:8832237-8832280	GM12878	blood:	n/a	n/a
20	BRCA1	chr11:8816704-8816706	H1-hESC	embryonic stem cell:	n/a	n/a
21	CCNT2	chr11:8848017-8848445	K562	blood:	n/a	n/a
22	CEBPB	chr11:8835762-8836287	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr11:8835218-8835696	IMR90	lung:	n/a	n/a
24	CEBPB	chr11:8848749-8849131	K562	blood:	n/a	chr11:8849096-8849107
25	CEBPB	chr11:8855193-8855567	IMR90	lung:	n/a	chr11:8855391-8855402 chr11:8855389-8855402
26	CEBPB	chr11:8833990-8834356	HepG2	liver:	n/a	n/a
27	CEBPB	chr11:8829157-8829512	IMR90	lung:	n/a	n/a
28	CEBPB	chr11:8850838-8850842	K562	blood:	n/a	n/a
29	CEBPB	chr11:8834035-8834375	MCF-7	breast:	n/a	n/a
30	CEBPB	chr11:8850586-8850969	IMR90	lung:	n/a	n/a
31	CEBPB	chr11:8836035-8836211	HepG2	liver:	n/a	n/a
32	CEBPB	chr11:8835243-8835592	HepG2	liver:	n/a	n/a
33	CEBPB	chr11:8834135-8834303	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr11:8848794-8849120	K562	blood:	n/a	chr11:8849096-8849107
35	CEBPB	chr11:8818635-8818761	A549	lung:	n/a	n/a
36	CEBPB	chr11:8833117-8833520	IMR90	lung:	n/a	n/a
37	CEBPB	chr11:8831863-8832261	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr11:8834036-8834325	A549	lung:	n/a	n/a
39	CEBPB	chr11:8855135-8855574	H1-hESC	embryonic stem cell:	n/a	chr11:8855391-8855402 chr11:8855389-8855402
40	CEBPZ	chr11:8848858-8848924	HepG2	liver:	n/a	n/a
41	CHD2	chr11:8832027-8832338	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr11:8854316-8854709	GM12878	blood:	n/a	n/a
43	CHD2	chr11:8835257-8835449	K562	blood:	n/a	n/a
44	CHD2	chr11:8835184-8835453	HepG2	liver:	n/a	n/a
45	CHD2	chr11:8855118-8855158	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr11:8831942-8832444	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr11:8835171-8835474	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr11:8832095-8832133	HepG2	liver:	n/a	n/a
49	CHD2	chr11:8835174-8835501	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr11:8816520-8816910	HRE	kidney:	n/a	chr11:8816539-8816552 chr11:8816540-8816549

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8833095-8833145	IMR90	lung:	fetal
2	chr11:8832817-8832867	LNCaP	prostate:	n/a
3	chr11:8833095-8833145	IMR90	lung:	fetal
4	chr11:8832817-8832867	LNCaP	prostate:	n/a
5	chr11:8847662-8847712	SAEC	small airway:	n/a
6	chr11:8832203-8832253	BE2_C	brain:	n/a
7	chr11:8832272-8832322	AG04450	lung:	fetal
8	chr11:8833689-8833739	NH-A	brain:	n/a
9	chr11:8833689-8833739	PANC-1	pancreas:	n/a
10	chr11:8827626-8827676	PANC-1	pancreas:	n/a
11	chr11:8829438-8829488	HCPEpiC	choroid plexus:	n/a
12	chr11:8832272-8832322	NHDF-neo	bronchial:	n/a
13	chr11:8821924-8821974	NH-A	brain:	n/a
14	chr11:8829438-8829488	GM12878	blood:	n/a
15	chr11:8821924-8821974	MCF-7	breast:	n/a
16	chr11:8854482-8854532	HEK293	kidney:	embryo
17	chr11:8847662-8847712	Jurkat	blood:	n/a
18	chr11:8821924-8821974	MCF10A-Er-Src	breast:	n/a
19	chr11:8832283-8832333	GM12891	blood:	n/a
20	chr11:8833095-8833145	RPTEC	kidney:	n/a
21	chr11:8832111-8832161	LNCaP	prostate:	n/a
22	chr11:8832956-8833006	RPTEC	kidney:	n/a
23	chr11:8854482-8854532	MCF-7	breast:	n/a
24	chr11:8827626-8827676	Jurkat	blood:	n/a
25	chr11:8833689-8833739	HCM	heart:	n/a
26	chr11:8833902-8833952	PANC-1	pancreas:	n/a
27	chr11:8832956-8833006	SK-N-SH	brain:	n/a
28	chr11:8832817-8832867	NT2-D1	testis:	n/a
29	chr11:8832907-8832957	HRCEpiC	kidney:	n/a
30	chr11:8832938-8832988	Hela-S3	cervix:	n/a
31	chr11:8832956-8833006	AG09319	gingival:	n/a
32	chr11:8854482-8854532	ECC-1	luminal epithelium:	n/a
33	chr11:8833902-8833952	NHBE	bronchial:	n/a
34	chr11:8832907-8832957	NT2-D1	testis:	n/a
35	chr11:8833902-8833952	Jurkat	blood:	n/a
36	chr11:8832111-8832161	ECC-1	luminal epithelium:	n/a
37	chr11:8833689-8833739	SK-N-MC	brain:	n/a
38	chr11:8854482-8854532	SK-N-SH	brain:	n/a
39	chr11:8827626-8827676	Hepatocyte	liver:	n/a
40	chr11:8832938-8832988	PFSK-1	brain:	n/a
41	chr11:8832938-8832988	PrEC	prostate:	n/a
42	chr11:8821924-8821974	NHBE	bronchial:	n/a
43	chr11:8847662-8847712	HepG2	liver:	n/a
44	chr11:8833902-8833952	AG04450	lung:	fetal
45	chr11:8832817-8832867	RPTEC	kidney:	n/a
46	chr11:8832272-8832322	ProgFib	skin:	n/a
47	chr11:8833902-8833952	NB4	blood:	n/a
48	chr11:8832938-8832988	AG04449	skin:	fetal
49	chr11:8832283-8832333	HCM	heart:	n/a
50	chr11:8832938-8832988	K562	blood:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8825764..8827558-chr11:8831066..8834335,3	K562	blood:
2	chr11:8831391..8833809-chr11:8833845..8836255,2	K562	blood:
3	chr11:8709004..8710990-chr11:8840827..8843152,2	MCF-7	breast:
4	chr11:8708284..8710316-chr11:8838549..8840292,2	MCF-7	breast:
5	chr11:8708277..8712745-chr11:8814108..8817920,5	MCF-7	breast:
6	chr11:8856465..8859459-chr11:8859495..8861215,2	MCF-7	breast:
7	chr11:8717868..8722426-chr11:8832973..8835335,4	K562	blood:
8	chr11:8854948..8856517-chr11:8861568..8863315,2	MCF-7	breast:
9	chr11:8702847..8705692-chr11:8833365..8835740,2	MCF-7	breast:
10	chr11:8711214..8713494-chr11:8834662..8837467,3	K562	blood:
11	chr11:8776493..8778441-chr11:8825146..8827348,2	MCF-7	breast:
12	chr11:8840012..8842971-chr11:8854220..8856402,2	MCF-7	breast:
13	chr11:8835358..8837463-chr11:8838521..8841389,2	MCF-7	breast:
14	chr11:8847275..8850671-chr11:8853327..8856938,3	K562	blood:
15	chr11:8715578..8718169-chr11:8819916..8823970,3	MCF-7	breast:
16	chr11:8701773..8703653-chr11:8846645..8848951,2	MCF-7	breast:
17	chr11:8708066..8711768-chr11:8837087..8840258,4	MCF-7	breast:
18	chr11:8285056..8285937-chr11:8834836..8835396,2	K562	blood:
19	chr11:8820429..8822256-chr11:8823665..8826630,2	K562	blood:
20	chr11:8706888..8711251-chr11:8829326..8831400,3	K562	blood:
21	chr11:8707625..8711209-chr11:8836057..8839950,3	K562	blood:
22	chr11:8851075..8853440-chr11:8856276..8857921,2	K562	blood:
23	chr11:8823897..8825497-chr11:8829391..8832297,2	K562	blood:
24	chr11:8707625..8713219-chr11:8836057..8840145,5	K562	blood:
25	chr11:8836156..8836984-chr11:60928785..60929437,2	Hela-S3	cervix:
26	chr11:8709021..8711860-chr11:8841578..8843870,2	K562	blood:
27	chr11:8835559..8836309-chr6:74226294..74227037,2	Hela-S3	cervix:
28	chr11:8702560..8704162-chr11:8846609..8848145,2	MCF-7	breast:
29	chr11:8847441..8849119-chr11:9018204..9019722,2	K562	blood:
30	chr11:8820429..8822256-chr11:8823665..8826630,2	K562	blood:
31	chr11:8830703..8833043-chr11:8833134..8835525,2	MCF-7	breast:
32	chr11:8850578..8853466-chr11:8861792..8863459,2	K562	blood:
33	chr11:8703535..8705747-chr11:8826684..8828285,2	MCF-7	breast:
34	chr11:8707539..8711325-chr11:8831652..8835543,5	MCF-7	breast:
35	chr11:8811870..8814213-chr11:8819561..8821244,2	K562	blood:
36	chr11:8840012..8842971-chr11:8854220..8856402,2	MCF-7	breast:
37	chr11:8708349..8711473-chr11:8829326..8831114,3	K562	blood:
38	chr11:8709766..8713200-chr11:8820077..8823864,3	K562	blood:
39	chr11:8715976..8718057-chr11:8817200..8820115,2	K562	blood:
40	chr11:8835358..8837463-chr11:8838521..8841389,2	MCF-7	breast:
41	chr11:8708964..8711177-chr11:8835969..8837619,2	MCF-7	breast:
42	chr11:8827149..8829298-chr11:8831731..8833459,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM66-7	chr11:8829373-8832882	NONHSAT017885
2	lnc-TRIM66-7	chr11:8854109-8854134	NONHSAT017887
3	lnc-TRIM66-7	chr11:8853103-8853235	NONHSAT017887
4	lnc-TRIM66-7	chr11:8852248-8852421	NONHSAT017887
5	lnc-TRIM66-7	chr11:8853103-8853235	NONHSAT017886
6	lnc-RPL27A-2	chr11:8831624-8831776	ENSG00000255159.1
7	lnc-RPL27A-2	chr11:8831624-8831778	ENSG00000255159.1
8	lnc-TRIM66-7	chr11:8832830-8832878	NONHSAT017886
9	lnc-TRIM66-7	chr11:8832964-8833127	NONHSAT017885

No data

Variant related genes	Relation type
ST5	TF binding region
ST5	CpG island
ENSG00000166444	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000212607	chromatin interactions
ENSG00000166407	chromatin interactions
ENSG00000167987	chromatin interactions

Extended variants
information (count: 1588 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4929912	chr11:8816695-8816696	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367696516	chr11:8816784-8816785	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs530767237	chr11:8816800-8816801	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550635434	chr11:8816883-8816884	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564054353	chr11:8816893-8816894	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537297950	chr11:8816952-8816953	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183331154	chr11:8816961-8816962	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572777704	chr11:8816963-8816964	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557578387	chr11:8817045-8817046	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567114788	chr11:8817079-8817080	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529546723	chr11:8817201-8817202	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs6484484	chr11:8817206-8817207	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs561872204	chr11:8817230-8817231	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569102250	chr11:8817267-8817268	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7944560	chr11:8817276-8817277	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs558212682	chr11:8817292-8817293	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571674338	chr11:8817309-8817310	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11042069	chr11:8817315-8817316	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs553881397	chr11:8817373-8817374	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs147412626	chr11:8817381-8817382	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs139649305	chr11:8817448-8817449	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs555732563	chr11:8817454-8817455	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575488129	chr11:8817514-8817515	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs541864234	chr11:8817536-8817537	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs544097255	chr11:8817576-8817577	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs10500707	chr11:8817580-8817581	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs187503962	chr11:8817626-8817627	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373254991	chr11:8817670-8817671	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559715892	chr11:8817679-8817680	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528897604	chr11:8817701-8817702	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs192736733	chr11:8817717-8817718	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569241493	chr11:8817721-8817722	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143568022	chr11:8817744-8817745	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530837669	chr11:8817747-8817748	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs34682793	chr11:8817789-8817790	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs3844100	chr11:8817808-8817809	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112812553	chr11:8817811-8817812	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs3842991	chr11:8817840-8817841	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553487712	chr11:8817843-8817844	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs184519575	chr11:8817851-8817852	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs532967032	chr11:8817873-8817874	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs12291552	chr11:8817883-8817884	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs189833525	chr11:8817914-8817915	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565851442	chr11:8817953-8817954	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555671565	chr11:8817954-8817955	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575624445	chr11:8817955-8817956	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs3862352	chr11:8818020-8818021	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557672182	chr11:8818021-8818022	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548180198	chr11:8818042-8818043	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577816256	chr11:8818071-8818072	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1797 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:8800800-8822400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:8800800-8825800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:8800800-8827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:8801600-8820000	Weak transcription	HSMMtube	muscle
6	chr11:8801600-8827400	Weak transcription	Esophagus	oesophagus
7	chr11:8802200-8819200	Weak transcription	NH-A	brain
8	chr11:8803000-8820600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:8808600-8819400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:8809000-8830200	Weak transcription	Fetal Brain Male	brain
11	chr11:8809200-8826600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:8809200-8829200	Weak transcription	Fetal Kidney	kidney
13	chr11:8810600-8820600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:8811800-8827000	Weak transcription	HMEC	breast
15	chr11:8811800-8828600	Weak transcription	Hela-S3	cervix
16	chr11:8811800-8828800	Weak transcription	Aorta	Aorta
17	chr11:8811800-8830400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:8811800-8830600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:8812400-8820600	Weak transcription	Right Ventricle	heart
20	chr11:8813800-8817600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr11:8814200-8817000	Enhancers	Rectal Smooth Muscle	rectum
22	chr11:8814200-8817200	Enhancers	Colon Smooth Muscle	Colon
23	chr11:8814200-8828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:8814600-8817400	Weak transcription	NHEK	skin
25	chr11:8814800-8825400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:8815000-8827800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:8815200-8817000	Enhancers	Fetal Intestine Large	intestine
28	chr11:8815200-8818200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:8815200-8818800	Weak transcription	Adipose Nuclei	Adipose
30	chr11:8815200-8826800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:8815400-8817000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:8815400-8818000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:8815400-8818600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:8815400-8819200	Weak transcription	Fetal Lung	lung
35	chr11:8815400-8820600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:8815400-8822000	Weak transcription	HUVEC	blood vessel
37	chr11:8815600-8817200	Genic enhancers	Fetal Muscle Leg	muscle
38	chr11:8815600-8822600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:8815600-8825200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:8815800-8816800	Enhancers	Psoas Muscle	Psoas
41	chr11:8815800-8816800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr11:8815800-8817000	Enhancers	Right Atrium	heart
43	chr11:8815800-8817200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:8815800-8817800	Strong transcription	Placenta	Placenta
45	chr11:8815800-8818200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:8815800-8827800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:8816000-8816800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:8816000-8816800	Enhancers	Colonic Mucosa	Colon
49	chr11:8816000-8817000	Enhancers	Fetal Heart	heart
50	chr11:8816000-8817800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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