Variant report

Variant	esv3328198
Chromosome Location	chr11:65600476-65603674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:65600997-65601410	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr11:65600837-65601223	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr11:65600818-65601292	GM12878	blood:	n/a	n/a
4	BACH1	chr11:65601104-65601729	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr11:65600933-65601559	GM12878	blood:	n/a	n/a
6	BRCA1	chr11:65602064-65602127	GM12878	blood:	n/a	n/a
7	BRCA1	chr11:65601245-65601486	GM12878	blood:	n/a	n/a
8	CHD1	chr11:65601243-65601397	GM12878	blood:	n/a	n/a
9	CHD2	chr11:65601072-65601534	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr11:65601175-65601498	K562	blood:	n/a	n/a
11	CHD2	chr11:65601098-65601518	GM12878	blood:	n/a	n/a
12	CREB1	chr11:65600969-65601614	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr11:65603100-65603250	GM12873	blood:	n/a	n/a
14	CTCF	chr11:65601907-65601985	GM12891	blood:	n/a	n/a
15	CTCF	chr11:65601400-65601550	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr11:65601060-65601210	AG04449	skin:	n/a	n/a
17	CTCF	chr11:65601414-65601465	GM12892	blood:	n/a	n/a
18	CTCF	chr11:65601269-65601423	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr11:65601300-65601450	AG04449	skin:	n/a	n/a
20	CTCF	chr11:65601660-65601810	GM12872	blood:	n/a	n/a
21	CTCF	chr11:65601424-65601517	Lung_OC	lung:	n/a	n/a
22	CTCF	chr11:65601919-65602119	GM19239	blood:	n/a	n/a
23	CTCF	chr11:65601269-65601409	GM12878	blood:	n/a	n/a
24	CTCF	chr11:65601429-65601438	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr11:65600961-65601036	GM19239	blood:	n/a	n/a
26	CUX1	chr11:65601232-65601343	GM12878	blood:	n/a	n/a
27	E2F6	chr11:65601431-65601539	K562	blood:	n/a	n/a
28	E2F6	chr11:65600597-65601696	H1-hESC	embryonic stem cell:	n/a	chr11:65601066-65601081 chr11:65601068-65601076 chr11:65601065-65601076 chr11:65601087-65601096 chr11:65601069-65601076 chr11:65601068-65601077 chr11:65601065-65601076 chr11:65601065-65601076 chr11:65601066-65601077 chr11:65601067-65601077
29	E2F6	chr11:65600516-65601807	H1-hESC	embryonic stem cell:	n/a	chr11:65601066-65601081 chr11:65601068-65601076 chr11:65601065-65601076 chr11:65601087-65601096 chr11:65601069-65601076 chr11:65601068-65601077 chr11:65601065-65601076 chr11:65601065-65601076 chr11:65601066-65601077 chr11:65601067-65601077
30	EBF1	chr11:65601102-65601395	GM12878	blood:	n/a	chr11:65601161-65601174 chr11:65601163-65601172 chr11:65601163-65601172
31	EGR1	chr11:65601159-65601485	GM12878	blood:	n/a	n/a
32	EGR1	chr11:65601220-65601459	K562	blood:	n/a	n/a
33	EGR1	chr11:65601131-65601530	GM12878	blood:	n/a	n/a
34	EGR1	chr11:65601187-65601509	K562	blood:	n/a	n/a
35	ELF1	chr11:65600838-65601499	GM12878	blood:	n/a	n/a
36	ELF1	chr11:65600638-65601738	GM12878	blood:	n/a	chr11:65601505-65601517
37	ELK1	chr11:65601245-65601339	GM12878	blood:	n/a	n/a
38	EP300	chr11:65601367-65601545	GM12878	blood:	n/a	n/a
39	FOS	chr11:65601145-65601528	K562	blood:	n/a	n/a
40	FOS	chr11:65601091-65601668	GM12878	blood:	n/a	n/a
41	FOXM1	chr11:65601061-65601545	GM12878	blood:	n/a	n/a
42	FOXM1	chr11:65601042-65601542	GM12878	blood:	n/a	n/a
43	GABPA	chr11:65601144-65601560	K562	blood:	n/a	n/a
44	GTF2F1	chr11:65601019-65601569	H1-hESC	embryonic stem cell:	n/a	n/a
45	IRF1	chr11:65601149-65601498	K562	blood:	n/a	chr11:65601313-65601322
46	IRF3	chr11:65601133-65601496	GM12878	blood:	n/a	chr11:65601313-65601322
47	JUND	chr11:65601078-65601332	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr11:65600781-65601758	SK-N-SH	brain:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
49	MAX	chr11:65601035-65601442	K562	blood:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
50	MAX	chr11:65600711-65601940	H1-hESC	embryonic stem cell:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65601202-65601252	IMR90	lung:	fetal
2	chr11:65601417-65601467	PANC-1	pancreas:	n/a
3	chr11:65601332-65601382	MCF-7	breast:	n/a
4	chr11:65600739-65600789	BE2_C	brain:	n/a
5	chr11:65601301-65601351	GM19239	blood:	n/a
6	chr11:65601427-65601477	HIPEpiC	eye:	n/a
7	chr11:65601328-65601378	AG10803	skin:	n/a
8	chr11:65600739-65600789	GM12878	blood:	n/a
9	chr11:65601754-65601804	PANC-1	pancreas:	n/a
10	chr11:65600739-65600789	K562	blood:	n/a
11	chr11:65601301-65601351	NHDF-neo	bronchial:	n/a
12	chr11:65600846-65600896	HRPEpiC	eye:	n/a
13	chr11:65601328-65601378	NT2-D1	testis:	n/a
14	chr11:65601385-65601435	ovcar-3	ovarian:	n/a
15	chr11:65601754-65601804	AG09309	skin:	n/a
16	chr11:65601202-65601252	GM19239	blood:	n/a
17	chr11:65601754-65601804	Caco-2	colon:	n/a
18	chr11:65601427-65601477	HRE	kidney:	n/a
19	chr11:65601267-65601317	PFSK-1	brain:	n/a
20	chr11:65601332-65601382	NB4	blood:	n/a
21	chr11:65601332-65601382	SAEC	small airway:	n/a
22	chr11:65601754-65601804	HEEpiC	esophagus:	n/a
23	chr11:65601328-65601378	U87	brain:	n/a
24	chr11:65601265-65601315	CMK	blood:	n/a
25	chr11:65601328-65601378	AG09319	gingival:	n/a
26	chr11:65601417-65601467	HEEpiC	esophagus:	n/a
27	chr11:65601332-65601382	HIPEpiC	eye:	n/a
28	chr11:65601301-65601351	SK-N-SH_RA	brain:	n/a
29	chr11:65600888-65600938	HMEC	breast:	n/a
30	chr11:65601427-65601477	NHDF-neo	bronchial:	n/a
31	chr11:65601427-65601477	AoSMC	blood vessel:	n/a
32	chr11:65601202-65601252	A549	lung:	n/a
33	chr11:65601265-65601315	HEEpiC	esophagus:	n/a
34	chr11:65601754-65601804	HRE	kidney:	n/a
35	chr11:65600888-65600938	Hela-S3	cervix:	n/a
36	chr11:65601427-65601477	ProgFib	skin:	n/a
37	chr11:65601754-65601804	HL-60	blood:	n/a
38	chr11:65600846-65600896	NHBE	bronchial:	n/a
39	chr11:65601385-65601435	NH-A	brain:	n/a
40	chr11:65600739-65600789	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:65601417-65601467	HCPEpiC	choroid plexus:	n/a
42	chr11:65601202-65601252	HepG2	liver:	n/a
43	chr11:65601301-65601351	IMR90	lung:	fetal
44	chr11:65601265-65601315	T-47D	breast:	n/a
45	chr11:65601301-65601351	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:65601301-65601351	HUVEC	blood vessel:	n/a
47	chr11:65601417-65601467	Jurkat	blood:	n/a
48	chr11:65601202-65601252	HEEpiC	esophagus:	n/a
49	chr11:65601427-65601477	MCF10A-Er-Src	breast:	n/a
50	chr11:65601167-65601217	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr11:65599027..65600852-chr11:65601394..65604291,2	K562	blood:
2	chr11:65599682..65601863-chr11:65818746..65820444,2	K562	blood:
3	chr11:65599027..65600852-chr11:65601394..65604291,2	K562	blood:
4	chr11:65601147..65603673-chr11:65623876..65625928,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUS81-1	chr11:65602977-65603144	NONHSAT022227
2	lnc-MUS81-1	chr11:65601414-65601554	NONHSAT022227

Variant related genes	Relation type
CFL1	TF binding region
SNX32	TF binding region
CFL1	CpG island
SNX32	CpG island
ENSG00000172732	chromatin interactions
ENSG00000172803	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000087365	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375531197	chr11:65600497-65600498	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs550282827	chr11:65600517-65600518	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs147708439	chr11:65600580-65600581	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs142552066	chr11:65600603-65600604	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs551941425	chr11:65600614-65600615	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs565645080	chr11:65600639-65600640	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs142441602	chr11:65600693-65600694	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs554293723	chr11:65600700-65600701	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs191409242	chr11:65600714-65600715	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs574343429	chr11:65600732-65600733	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs536628697	chr11:65600770-65600771	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs557049227	chr11:65600781-65600782	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs74801402	chr11:65600792-65600793	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs545658559	chr11:65600793-65600794	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs35337885	chr11:65600872-65600873	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370360564	chr11:65600908-65600909	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs72924752	chr11:65600913-65600914	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541674999	chr11:65600928-65600929	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs183119726	chr11:65600931-65600932	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs12222433	chr11:65600970-65600971	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs530134426	chr11:65600976-65600977	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs549903225	chr11:65600997-65600998	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs563479300	chr11:65601028-65601029	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs532427155	chr11:65601033-65601034	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs551953588	chr11:65601070-65601071	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs151320196	chr11:65601086-65601087	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs140637025	chr11:65601106-65601107	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs12804719	chr11:65601116-65601117	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374446258	chr11:65601153-65601154	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs113038744	chr11:65601167-65601168	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs537098663	chr11:65601171-65601172	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs186025259	chr11:65601218-65601219	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs570571500	chr11:65601244-65601245	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs564473641	chr11:65601250-65601251	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs559210765	chr11:65601334-65601335	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs533100652	chr11:65601337-65601338	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs572711825	chr11:65601402-65601403	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs34841779	chr11:65601407-65601408	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs541242712	chr11:65601413-65601414	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs543696266	chr11:65601419-65601420	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
41	rs59416249	chr11:65601466-65601467	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575020734	chr11:65601469-65601470	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
43	rs369986324	chr11:65601474-65601475	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs563293263	chr11:65601495-65601496	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs532489842	chr11:65601532-65601533	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs17854357	chr11:65601560-65601561	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs374503123	chr11:65601602-65601603	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs377007940	chr11:65601638-65601639	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs150700040	chr11:65601645-65601646	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs528318835	chr11:65601648-65601649	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65585800-65600600	Weak transcription	Small Intestine	intestine
2	chr11:65600200-65600600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:65600200-65600600	Flanking Active TSS	Fetal Brain Male	brain
4	chr11:65600200-65600600	Flanking Active TSS	Fetal Brain Female	brain
5	chr11:65600200-65600600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
6	chr11:65600200-65600800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:65600200-65600800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr11:65600200-65600800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:65600200-65600800	Bivalent Enhancer	NHDF-Ad	bronchial
10	chr11:65600200-65601200	Flanking Active TSS	Dnd41	blood
11	chr11:65600200-65601600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr11:65600200-65601600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:65600200-65601800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr11:65600200-65602600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:65600400-65600600	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
16	chr11:65600400-65600600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:65600400-65600600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:65600400-65600600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:65600400-65600600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:65600400-65600600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:65600400-65600600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:65600400-65600600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:65600400-65600600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:65600400-65600600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr11:65600400-65600600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:65600400-65600600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:65600400-65600600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:65600400-65600600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:65600400-65600600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr11:65600400-65600600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:65600400-65600600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:65600400-65600600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:65600400-65600600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:65600400-65600600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:65600400-65600600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:65600400-65600600	Enhancers	Aorta	Aorta
37	chr11:65600400-65600600	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr11:65600400-65600600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr11:65600400-65600600	Active TSS	Colonic Mucosa	Colon
40	chr11:65600400-65600600	Enhancers	Fetal Heart	heart
41	chr11:65600400-65600600	Enhancers	Pancreas	Pancrea
42	chr11:65600400-65600600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:65600400-65600600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:65600400-65600600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
45	chr11:65600400-65600600	Active TSS	Thymus	Thymus
46	chr11:65600400-65600600	Enhancers	Spleen	Spleen
47	chr11:65600400-65600600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
48	chr11:65600400-65600600	Bivalent/Poised TSS	Osteobl	bone
49	chr11:65600400-65600800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:65600400-65600800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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