Variant report

Variant	esv3323213
Chromosome Location	chr11:67139601-67142149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:763)
CpG islands
(count:856)
Chromatin interactive
region (count:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:763 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67141871-67142060	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:67141724-67142126	K562	blood:	n/a	n/a
3	ATF2	chr11:67141083-67141380	GM12878	blood:	n/a	n/a
4	ATF3	chr11:67140879-67142447	A549	lung:	n/a	chr11:67141369-67141378 chr11:67140957-67140966
5	ATF3	chr11:67141330-67142359	A549	lung:	n/a	chr11:67141369-67141378
6	ATF3	chr11:67141687-67142060	K562	blood:	n/a	n/a
7	BACH1	chr11:67141425-67142399	K562	blood:	n/a	n/a
8	BACH1	chr11:67141029-67141200	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr11:67141587-67142174	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr11:67140853-67142816	A549	lung:	n/a	chr11:67140958-67140967 chr11:67141685-67141698
11	BCL3	chr11:67138728-67139777	A549	lung:	n/a	chr11:67139091-67139104
12	BCL3	chr11:67138621-67140141	A549	lung:	n/a	chr11:67139091-67139104
13	BCL3	chr11:67141100-67142684	A549	lung:	n/a	chr11:67141685-67141698
14	BHLHE40	chr11:67141627-67142117	K562	blood:	n/a	n/a
15	BHLHE40	chr11:67141137-67141271	GM12878	blood:	n/a	n/a
16	BHLHE40	chr11:67141560-67142442	A549	lung:	n/a	n/a
17	BHLHE40	chr11:67141741-67141978	GM12878	blood:	n/a	n/a
18	BRCA1	chr11:67141555-67142189	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr11:67141116-67141241	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr11:67141754-67142140	H1-hESC	embryonic stem cell:	n/a	n/a
21	CBX3	chr11:67141193-67142138	K562	blood:	n/a	n/a
22	CCNT2	chr11:67140118-67142068	K562	blood:	n/a	chr11:67141751-67141760 chr11:67141011-67141020 chr11:67141369-67141378 chr11:67140964-67140973 chr11:67141363-67141372
23	CEBPB	chr11:67141789-67142176	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr11:67140890-67142772	A549	lung:	n/a	n/a
25	CEBPB	chr11:67141704-67142177	K562	blood:	n/a	n/a
26	CEBPB	chr11:67141814-67142157	HepG2	liver:	n/a	n/a
27	CEBPB	chr11:67141510-67142268	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr11:67141180-67142236	MCF-7	breast:	n/a	n/a
29	CEBPB	chr11:67141780-67142147	HepG2	liver:	n/a	n/a
30	CEBPB	chr11:67141087-67142244	A549	lung:	n/a	n/a
31	CEBPB	chr11:67141786-67142209	K562	blood:	n/a	n/a
32	CEBPB	chr11:67141886-67142047	HepG2	liver:	n/a	n/a
33	CEBPB	chr11:67141560-67142241	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr11:67141516-67142198	IMR90	lung:	n/a	n/a
35	CEBPB	chr11:67141302-67142374	HCT-116	colon:	n/a	n/a
36	CEBPB	chr11:67141479-67142252	A549	lung:	n/a	n/a
37	CEBPD	chr11:67140409-67140662	HepG2	liver:	n/a	n/a
38	CHD1	chr11:67140435-67140436	GM12878	blood:	n/a	n/a
39	CHD1	chr11:67141038-67141304	GM12878	blood:	n/a	chr11:67141258-67141268
40	CHD1	chr11:67140091-67142532	IMR90	lung:	n/a	chr11:67140198-67140208 chr11:67141370-67141380 chr11:67141258-67141268
41	CHD2	chr11:67141284-67141529	K562	blood:	n/a	chr11:67141370-67141380
42	CHD2	chr11:67140644-67140774	GM12878	blood:	n/a	n/a
43	CHD2	chr11:67140618-67140722	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr11:67141916-67142024	K562	blood:	n/a	n/a
45	CHD2	chr11:67140982-67142665	Hela-S3	cervix:	n/a	chr11:67141370-67141380 chr11:67141258-67141268
46	CHD2	chr11:67140143-67140307	Hela-S3	cervix:	n/a	chr11:67140198-67140208
47	CHD2	chr11:67141194-67141402	GM12878	blood:	n/a	chr11:67141370-67141380 chr11:67141258-67141268
48	CHD2	chr11:67140542-67140766	Hela-S3	cervix:	n/a	n/a
49	CREB1	chr11:67140929-67141442	GM12878	blood:	n/a	n/a
50	CREB1	chr11:67139769-67140555	A549	lung:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67141686-67141736	HNPCEpiC	eye:	n/a
2	chr11:67141686-67141736	Jurkat	blood:	n/a
3	chr11:67141686-67141736	HNPCEpiC	eye:	n/a
4	chr11:67141686-67141736	Jurkat	blood:	n/a
5	chr11:67141961-67142011	SK-N-SH_RA	brain:	n/a
6	chr11:67141422-67141472	GM06990	blood:	n/a
7	chr11:67141422-67141472	SK-N-SH	brain:	n/a
8	chr11:67139907-67139957	HL-60	blood:	n/a
9	chr11:67141686-67141736	SK-N-MC	brain:	n/a
10	chr11:67141742-67141792	HMEC	breast:	n/a
11	chr11:67141961-67142011	HRE	kidney:	n/a
12	chr11:67141792-67141842	AG09309	skin:	n/a
13	chr11:67141079-67141129	HRE	kidney:	n/a
14	chr11:67141961-67142011	Jurkat	blood:	n/a
15	chr11:67141686-67141736	PANC-1	pancreas:	n/a
16	chr11:67140702-67140752	Hela-S3	cervix:	n/a
17	chr11:67141079-67141129	AG09309	skin:	n/a
18	chr11:67139907-67139957	AG04449	skin:	fetal
19	chr11:67140702-67140752	BE2_C	brain:	n/a
20	chr11:67141792-67141842	SK-N-SH	brain:	n/a
21	chr11:67142030-67142080	SK-N-SH	brain:	n/a
22	chr11:67139907-67139957	HIPEpiC	eye:	n/a
23	chr11:67140702-67140752	AG09319	gingival:	n/a
24	chr11:67141422-67141472	NH-A	brain:	n/a
25	chr11:67142030-67142080	HNPCEpiC	eye:	n/a
26	chr11:67141079-67141129	RPTEC	kidney:	n/a
27	chr11:67140702-67140752	SK-N-MC	brain:	n/a
28	chr11:67141747-67141797	SK-N-MC	brain:	n/a
29	chr11:67141792-67141842	AG04450	lung:	fetal
30	chr11:67141242-67141292	PrEC	prostate:	n/a
31	chr11:67141961-67142011	SK-N-SH	brain:	n/a
32	chr11:67139907-67139957	GM06990	blood:	n/a
33	chr11:67142001-67142051	HUVEC	blood vessel:	n/a
34	chr11:67141792-67141842	PFSK-1	brain:	n/a
35	chr11:67142001-67142051	U87	brain:	n/a
36	chr11:67141079-67141129	AG04449	skin:	fetal
37	chr11:67141961-67142011	HepG2	liver:	n/a
38	chr11:67141079-67141129	GM06990	blood:	n/a
39	chr11:67141242-67141292	H1-hESC	embryonic stem cell:	embryo
40	chr11:67141747-67141797	Jurkat	blood:	n/a
41	chr11:67141961-67142011	AG04450	lung:	fetal
42	chr11:67141079-67141129	LNCaP	prostate:	n/a
43	chr11:67141242-67141292	T-47D	breast:	n/a
44	chr11:67141422-67141472	CMK	blood:	n/a
45	chr11:67141747-67141797	HRE	kidney:	n/a
46	chr11:67141079-67141129	HUVEC	blood vessel:	n/a
47	chr11:67141628-67141678	NHBE	bronchial:	n/a
48	chr11:67141742-67141792	HepG2	liver:	n/a
49	chr11:67141135-67141185	HMEC	breast:	n/a
50	chr11:67142001-67142051	AoSMC	blood vessel:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:67124080..67124985-chr11:67141333..67142050,4	K562	blood:
2	chr11:67141166..67142111-chr16:30709540..30710323,2	Hela-S3	cervix:
3	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
4	chr11:67069839..67071996-chr11:67139740..67141397,2	MCF-7	breast:
5	chr11:67055136..67057390-chr11:67140087..67141656,2	MCF-7	breast:
6	chr11:67085099..67087143-chr11:67137966..67139875,2	K562	blood:
7	chr11:66622570..66624423-chr11:67139168..67140990,2	MCF-7	breast:
8	chr11:67138865..67141337-chr11:67205315..67206965,2	K562	blood:
9	chr11:67140815..67142437-chr11:67396749..67399508,2	MCF-7	breast:
10	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:
11	chr11:67138420..67140492-chr11:67271610..67274474,2	K562	blood:
12	chr11:67141217..67141721-chr15:65596618..65597187,2	Hela-S3	cervix:
13	chr11:67140268..67142517-chr20:55839534..55841832,2	MCF-7	breast:
14	chr11:67077940..67083214-chr11:67140082..67142904,6	MCF-7	breast:
15	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
16	chr11:67138903..67140672-chr11:67189332..67192243,2	K562	blood:
17	chr11:67141684..67144612-chr14:62266117..62268626,2	MCF-7	breast:
18	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
19	chr11:67120355..67120891-chr11:67141344..67142247,2	MCF-7	breast:
20	chr11:67085218..67086846-chr11:67141974..67144447,2	K562	blood:
21	chr11:67139414..67143301-chr11:67273275..67276817,6	MCF-7	breast:
22	chr11:67139479..67140053-chr11:67149261..67150255,2	K562	blood:
23	chr11:67139765..67142051-chr17:57918264..57920706,2	MCF-7	breast:
24	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
25	chr11:67141563..67142093-chr2:37193174..37193824,2	Hela-S3	cervix:
26	chr11:66823034..66824892-chr11:67139520..67142366,3	MCF-7	breast:
27	chr11:67138591..67140616-chr11:67149692..67150721,9	MCF-7	breast:
28	chr11:67070466..67072644-chr11:67139702..67142015,2	K562	blood:
29	chr11:67141590..67142463-chr11:111749577..111750345,2	Hela-S3	cervix:
30	chr11:67139501..67142119-chr16:3071898..3074181,2	MCF-7	breast:
31	chr11:66821897..66826528-chr11:67139094..67144065,11	MCF-7	breast:
32	chr11:66788543..66790931-chr11:67139607..67141552,2	MCF-7	breast:
33	chr11:67140319..67142184-chr11:67395845..67397635,2	MCF-7	breast:
34	chr11:67141217..67141794-chr9:139377418..139378330,2	Hela-S3	cervix:
35	chr11:67140485..67142430-chr11:67273527..67275502,2	K562	blood:
36	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
37	chr11:67141283..67141790-chr7:106809496..106810341,2	Hela-S3	cervix:
38	chr11:62608228..62609142-chr11:67139785..67140767,2	HCT-116	colon:
39	chr11:67141172..67143536-chr11:67171363..67173683,2	K562	blood:
40	chr11:67069246..67073295-chr11:67139634..67145393,8	MCF-7	breast:
41	chr11:67088208..67091047-chr11:67138396..67140194,2	MCF-7	breast:
42	chr11:67069872..67072644-chr11:67140515..67142125,2	K562	blood:
43	chr11:67078342..67081725-chr11:67139517..67143464,5	MCF-7	breast:
44	chr11:67140249..67142626-chr11:67380875..67383552,2	MCF-7	breast:
45	chr11:67139623..67143035-chr11:67167894..67169679,3	K562	blood:
46	chr11:67044106..67046398-chr11:67138784..67140765,2	K562	blood:
47	chr11:67140165..67142541-chr11:67273740..67276217,2	MCF-7	breast:
48	chr11:66845534..66847277-chr11:67139384..67140950,2	MCF-7	breast:
49	chr11:67124136..67124774-chr11:67141523..67142327,3	MCF-7	breast:
50	chr11:67140774..67143112-chr11:67157579..67159214,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256514	TF binding region
CLCF1	TF binding region
ENSG00000256514	CpG island
CLCF1	CpG island
ENSG00000110711	chromatin interactions
ENSG00000258529	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000172725	chromatin interactions
ENSG00000175463	chromatin interactions
ENSG00000173020	chromatin interactions
ENSG00000105856	chromatin interactions
ENSG00000104946	chromatin interactions
ENSG00000103145	chromatin interactions
ENSG00000204673	chromatin interactions
ENSG00000173621	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000131652	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000213402	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000255561	chromatin interactions
ENSG00000173120	chromatin interactions
ENSG00000173156	chromatin interactions
ENSG00000115808	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000196366	chromatin interactions
ENSG00000116396	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000231793	chromatin interactions
ENSG00000173227	chromatin interactions
ENSG00000172508	chromatin interactions
ENSG00000137720	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000172830	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79442357	chr11:67139616-67139617	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs545122696	chr11:67139624-67139625	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs146751308	chr11:67139663-67139664	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs78244251	chr11:67139672-67139673	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs542423523	chr11:67139676-67139677	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
6	rs561162117	chr11:67139691-67139692	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs528330154	chr11:67139756-67139757	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs79890820	chr11:67139779-67139780	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
9	rs564930169	chr11:67139829-67139830	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
10	rs78868838	chr11:67139859-67139860	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
11	rs61891586	chr11:67139870-67139871	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs61891587	chr11:67139898-67139899	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
13	rs569217452	chr11:67140011-67140012	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs530230635	chr11:67140025-67140026	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs182548413	chr11:67140036-67140037	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs567064085	chr11:67140052-67140053	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs187159339	chr11:67140220-67140221	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
18	rs534216211	chr11:67140253-67140254	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
19	rs111831134	chr11:67140304-67140305	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
20	rs559338836	chr11:67140424-67140425	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
21	rs571243564	chr11:67140575-67140576	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
22	rs191661216	chr11:67140586-67140587	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
23	rs140450336	chr11:67140696-67140697	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
24	rs575221908	chr11:67140716-67140717	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
25	rs113685862	chr11:67140935-67140936	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
26	rs112054504	chr11:67141031-67141032	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
27	rs554428933	chr11:67141071-67141072	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
28	rs573036376	chr11:67141178-67141179	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
29	rs35544864	chr11:67141184-67141185	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
30	rs540113469	chr11:67141258-67141259	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
31	rs564868192	chr11:67141316-67141317	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
32	rs544170365	chr11:67141317-67141318	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
33	rs182674236	chr11:67141425-67141426	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
34	rs530098133	chr11:67141452-67141453	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
35	rs148289068	chr11:67141459-67141460	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
36	rs61593941	chr11:67141460-67141461	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
37	rs3758943	chr11:67141483-67141484	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs61435624	chr11:67141489-67141490	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
39	rs398076004	chr11:67141490-67141491	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
40	rs397743369	chr11:67141491-67141492	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
41	rs566947530	chr11:67141497-67141498	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
42	rs547164488	chr11:67141548-67141549	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
43	rs527916761	chr11:67141578-67141579	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
44	rs573079554	chr11:67141630-67141631	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
45	rs371608960	chr11:67141695-67141696	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
46	rs373338077	chr11:67141721-67141722	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
47	rs187802216	chr11:67141772-67141773	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
48	rs556640693	chr11:67141785-67141786	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
49	rs568846810	chr11:67141800-67141801	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
50	rs535957724	chr11:67141827-67141828	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Myelofibrosis	22110671	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
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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67136200-67139800	Weak transcription	NHEK	skin
2	chr11:67136600-67140000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:67136800-67139800	Transcr. at gene 5' and 3'	A549	lung
4	chr11:67136800-67143600	Bivalent Enhancer	Fetal Thymus	thymus
5	chr11:67137000-67140000	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr11:67137400-67139800	Enhancers	Fetal Heart	heart
7	chr11:67137600-67140200	Bivalent Enhancer	Dnd41	blood
8	chr11:67137800-67139800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:67138000-67139800	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr11:67138000-67139800	Enhancers	Stomach Mucosa	stomach
11	chr11:67138000-67139800	Flanking Active TSS	NHLF	lung
12	chr11:67138000-67140000	Flanking Active TSS	NH-A	brain
13	chr11:67138200-67139800	Flanking Active TSS	Fetal Lung	lung
14	chr11:67138200-67140000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:67138200-67140000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:67138400-67139800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
17	chr11:67138400-67140000	Flanking Active TSS	Hela-S3	cervix
18	chr11:67138800-67139800	Enhancers	Liver	Liver
19	chr11:67138800-67139800	Enhancers	Brain Angular Gyrus	brain
20	chr11:67138800-67139800	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr11:67138800-67139800	Flanking Active TSS	HMEC	breast
22	chr11:67138800-67140000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:67138800-67140000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr11:67138800-67140000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:67139000-67139800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:67139000-67139800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:67139000-67139800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:67139000-67140000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr11:67139000-67140000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr11:67139000-67140000	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr11:67139000-67140000	Flanking Active TSS	Colonic Mucosa	Colon
32	chr11:67139000-67140000	Flanking Active TSS	Pancreas	Pancrea
33	chr11:67139000-67140000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr11:67139000-67140200	Enhancers	Brain Cingulate Gyrus	brain
35	chr11:67139000-67141600	Active TSS	HSMMtube	muscle
36	chr11:67139200-67139800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:67139200-67139800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr11:67139200-67139800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
39	chr11:67139200-67139800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:67139200-67139800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:67139200-67139800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:67139200-67139800	Flanking Active TSS	Lung	lung
43	chr11:67139200-67140000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:67139200-67140000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:67139200-67140000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:67139200-67140000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:67139200-67140000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:67139200-67140000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr11:67139200-67140000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
50	chr11:67139200-67140000	Flanking Active TSS	Duodenum Mucosa	Duodenum

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