Variant report

Variant	esv3325633
Chromosome Location	chr11:65685401-65688349
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	ARID3A	chr11:65686659-65686991	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:65686677-65686939	K562	blood:	n/a	n/a
3	ATF2	chr11:65686653-65687052	GM12878	blood:	n/a	n/a
4	ATF2	chr11:65686626-65687038	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:65686683-65687018	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:65686650-65686971	GM12878	blood:	n/a	n/a
7	ATF3	chr11:65686629-65687052	A549	lung:	n/a	chr11:65686722-65686731
8	ATF3	chr11:65686701-65686947	K562	blood:	n/a	chr11:65686722-65686731
9	ATF3	chr11:65686421-65686603	K562	blood:	n/a	n/a
10	ATF3	chr11:65686667-65687044	A549	lung:	n/a	chr11:65686722-65686731
11	BACH1	chr11:65686778-65687013	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr11:65686141-65686222	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr11:65686704-65686914	GM12878	blood:	n/a	n/a
14	BCL11A	chr11:65686758-65686944	GM12878	blood:	n/a	chr11:65686921-65686934 chr11:65686933-65686942 chr11:65686925-65686938 chr11:65686852-65686861 chr11:65686910-65686923
15	BCL11A	chr11:65686703-65687013	GM12878	blood:	n/a	chr11:65686921-65686934 chr11:65686933-65686942 chr11:65686726-65686739 chr11:65686925-65686938 chr11:65686852-65686861 chr11:65686910-65686923
16	BCL3	chr11:65686536-65687065	A549	lung:	n/a	chr11:65686571-65686584 chr11:65686921-65686934 chr11:65686933-65686942 chr11:65686726-65686739 chr11:65686577-65686590 chr11:65686925-65686938 chr11:65686555-65686568 chr11:65686852-65686861 chr11:65686910-65686923
17	BCL3	chr11:65686649-65687001	GM12878	blood:	n/a	chr11:65686921-65686934 chr11:65686933-65686942 chr11:65686726-65686739 chr11:65686925-65686938 chr11:65686852-65686861 chr11:65686910-65686923
18	BCL3	chr11:65686707-65686973	GM12878	blood:	n/a	chr11:65686921-65686934 chr11:65686933-65686942 chr11:65686726-65686739 chr11:65686925-65686938 chr11:65686852-65686861 chr11:65686910-65686923
19	BCLAF1	chr11:65686660-65687043	GM12878	blood:	n/a	chr11:65686921-65686934 chr11:65686933-65686942 chr11:65686726-65686739 chr11:65686925-65686938 chr11:65686852-65686861 chr11:65686910-65686923
20	BCLAF1	chr11:65686680-65687031	K562	blood:	n/a	chr11:65686921-65686934 chr11:65686933-65686942 chr11:65686726-65686739 chr11:65686925-65686938 chr11:65686852-65686861 chr11:65686910-65686923
21	BCLAF1	chr11:65686665-65687114	GM12878	blood:	n/a	chr11:65686921-65686934 chr11:65686933-65686942 chr11:65686726-65686739 chr11:65686925-65686938 chr11:65686852-65686861 chr11:65686910-65686923
22	BHLHE40	chr11:65686707-65687056	K562	blood:	n/a	chr11:65686723-65686739
23	BHLHE40	chr11:65686245-65687008	HepG2	liver:	n/a	chr11:65686574-65686590 chr11:65686317-65686333 chr11:65686723-65686739 chr11:65686569-65686585
24	BHLHE40	chr11:65686654-65687076	GM12878	blood:	n/a	chr11:65686723-65686739
25	BRCA1	chr11:65686759-65687016	HepG2	liver:	n/a	n/a
26	BRCA1	chr11:65685607-65685614	GM12878	blood:	n/a	n/a
27	BRCA1	chr11:65686773-65686944	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr11:65686764-65686857	GM12878	blood:	n/a	n/a
29	CBX3	chr11:65686649-65686999	K562	blood:	n/a	n/a
30	CBX3	chr11:65686422-65687144	K562	blood:	n/a	n/a
31	CCNT2	chr11:65686081-65687130	K562	blood:	n/a	chr11:65687121-65687130
32	CEBPB	chr11:65686684-65686953	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr11:65686749-65687006	GM12878	blood:	n/a	n/a
34	CEBPB	chr11:65686539-65687126	GM12878	blood:	n/a	n/a
35	CEBPB	chr11:65686652-65686925	HepG2	liver:	n/a	n/a
36	CEBPB	chr11:65685891-65686405	GM12878	blood:	n/a	n/a
37	CEBPB	chr11:65686722-65687101	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr11:65686648-65686982	K562	blood:	n/a	n/a
39	CEBPB	chr11:65686643-65687071	A549	lung:	n/a	n/a
40	CEBPD	chr11:65686225-65686956	HepG2	liver:	n/a	n/a
41	CHD1	chr11:65684362-65687144	IMR90	lung:	n/a	chr11:65687119-65687129
42	CHD1	chr11:65686284-65686436	GM12878	blood:	n/a	n/a
43	CHD1	chr11:65686716-65687002	GM12878	blood:	n/a	n/a
44	CHD2	chr11:65686226-65687255	Hela-S3	cervix:	n/a	chr11:65687119-65687129
45	CHD2	chr11:65686677-65686978	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr11:65686395-65687010	GM12878	blood:	n/a	n/a
47	CHD2	chr11:65686480-65686983	HepG2	liver:	n/a	n/a
48	CHD2	chr11:65686782-65686987	K562	blood:	n/a	n/a
49	CREB1	chr11:65686265-65687110	HepG2	liver:	n/a	n/a
50	CREB1	chr11:65686667-65687085	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65686131-65686181	SK-N-MC	brain:	n/a
2	chr11:65686131-65686181	SK-N-MC	brain:	n/a
3	chr11:65687220-65687270	Hepatocyte	liver:	n/a
4	chr11:65685787-65685837	Caco-2	colon:	n/a
5	chr11:65687479-65687529	HAEpiC	amniotic membrane:	n/a
6	chr11:65686680-65686730	HUVEC	blood vessel:	n/a
7	chr11:65687892-65687942	HRPEpiC	eye:	n/a
8	chr11:65686288-65686338	SK-N-MC	brain:	n/a
9	chr11:65686513-65686563	ovcar-3	ovarian:	n/a
10	chr11:65686662-65686712	HNPCEpiC	eye:	n/a
11	chr11:65685787-65685837	AG04449	skin:	fetal
12	chr11:65685787-65685837	PANC-1	pancreas:	n/a
13	chr11:65686562-65686612	BE2_C	brain:	n/a
14	chr11:65685874-65685924	H1-hESC	embryonic stem cell:	embryo
15	chr11:65686660-65686710	HCPEpiC	choroid plexus:	n/a
16	chr11:65687877-65687927	HNPCEpiC	eye:	n/a
17	chr11:65685702-65685752	LNCaP	prostate:	n/a
18	chr11:65686131-65686181	AG10803	skin:	n/a
19	chr11:65687877-65687927	BE2_C	brain:	n/a
20	chr11:65687892-65687942	RPTEC	kidney:	n/a
21	chr11:65686680-65686730	HCT-116	colon:	n/a
22	chr11:65687220-65687270	HL-60	blood:	n/a
23	chr11:65686003-65686053	PrEC	prostate:	n/a
24	chr11:65687479-65687529	Caco-2	colon:	n/a
25	chr11:65685702-65685752	HEEpiC	esophagus:	n/a
26	chr11:65686003-65686053	Jurkat	blood:	n/a
27	chr11:65685874-65685924	HL-60	blood:	n/a
28	chr11:65687479-65687529	HCPEpiC	choroid plexus:	n/a
29	chr11:65687479-65687529	NH-A	brain:	n/a
30	chr11:65685874-65685924	HRE	kidney:	n/a
31	chr11:65685702-65685752	GM12891	blood:	n/a
32	chr11:65687892-65687942	GM06990	blood:	n/a
33	chr11:65686288-65686338	HEEpiC	esophagus:	n/a
34	chr11:65687877-65687927	NT2-D1	testis:	n/a
35	chr11:65686680-65686730	ovcar-3	ovarian:	n/a
36	chr11:65687877-65687927	HepG2	liver:	n/a
37	chr11:65687220-65687270	NB4	blood:	n/a
38	chr11:65686562-65686612	GM12878	blood:	n/a
39	chr11:65685874-65685924	ProgFib	skin:	n/a
40	chr11:65686131-65686181	HIPEpiC	eye:	n/a
41	chr11:65687892-65687942	Hela-S3	cervix:	n/a
42	chr11:65685702-65685752	AG09319	gingival:	n/a
43	chr11:65686003-65686053	HMEC	breast:	n/a
44	chr11:65687892-65687942	SK-N-SH	brain:	n/a
45	chr11:65686562-65686612	HRPEpiC	eye:	n/a
46	chr11:65686131-65686181	HL-60	blood:	n/a
47	chr11:65686660-65686710	H1-hESC	embryonic stem cell:	embryo
48	chr11:65685702-65685752	HCF	heart:	n/a
49	chr11:65686662-65686712	HL-60	blood:	n/a
50	chr11:65686288-65686338	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
2	chr11:65686028..65688370-chr14:24657521..24659456,2	MCF-7	breast:
3	chr11:65430177..65431911-chr11:65686267..65688055,2	K562	blood:
4	chr11:65684023..65687163-chr11:65778751..65782457,4	MCF-7	breast:
5	chr11:65686171..65686983-chr19:33071716..33072478,2	HCT-116	colon:
6	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
7	chr11:65383137..65385926-chr11:65685879..65687522,2	MCF-7	breast:
8	chr10:1034172..1034811-chr11:65686147..65686698,2	Hela-S3	cervix:
9	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
10	chr11:65684297..65686517-chr11:66083132..66085712,2	MCF-7	breast:
11	chr11:65686358..65687859-chr13:91999900..92001660,2	K562	blood:
12	chr11:65485702..65488169-chr11:65683105..65685418,2	MCF-7	breast:
13	chr11:65650935..65653549-chr11:65685284..65687414,2	MCF-7	breast:
14	chr11:65478095..65481080-chr11:65686637..65690416,3	MCF-7	breast:
15	chr11:65686020..65686523-chr3:157821786..157822286,2	Hela-S3	cervix:
16	chr11:65686148..65686733-chr16:29828169..29828705,2	HCT-116	colon:
17	chr11:64509755..64511903-chr11:65684738..65686627,2	K562	blood:
18	chr11:65683260..65685556-chr11:65700127..65702595,2	MCF-7	breast:
19	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
20	chr11:65342886..65345023-chr11:65685103..65687892,2	MCF-7	breast:
21	chr11:65686637..65688948-chr11:65818033..65819758,2	MCF-7	breast:
22	chr11:65686026..65690385-chr11:65711034..65716101,7	MCF-7	breast:
23	chr11:65685854..65687838-chr13:92002138..92004111,2	K562	blood:
24	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:
25	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
26	chr11:65488196..65490800-chr11:65684778..65687737,2	MCF-7	breast:
27	chr11:65556129..65558020-chr11:65687401..65689807,2	MCF-7	breast:
28	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
29	chr11:65685704..65687769-chr16:2199138..2200731,2	MCF-7	breast:
30	chr11:65686081..65686774-chr8:146017486..146018154,2	MCF-7	breast:
31	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:

Variant related genes	Relation type
C11orf68	TF binding region
DRAP1	TF binding region
C11orf68	CpG island
DRAP1	CpG island
ENSG00000175315	chromatin interactions
ENSG00000174807	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000255120	chromatin interactions
ENSG00000175513	chromatin interactions
ENSG00000172638	chromatin interactions
ENSG00000185928	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000172922	chromatin interactions
ENSG00000175467	chromatin interactions
ENSG00000205740	chromatin interactions
ENSG00000173442	chromatin interactions
ENSG00000255038	chromatin interactions
ENSG00000167964	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000107937	chromatin interactions
ENSG00000068831	chromatin interactions
ENSG00000087365	chromatin interactions
ENSG00000196497	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000161016	chromatin interactions
ENSG00000105185	chromatin interactions
ENSG00000172818	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574139902	chr11:65685466-65685467	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs150568483	chr11:65685470-65685471	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs536451862	chr11:65685488-65685489	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs139058880	chr11:65685495-65685496	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs371675950	chr11:65685502-65685503	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs139550883	chr11:65685509-65685510	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs191917397	chr11:65685579-65685580	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs565007272	chr11:65685581-65685582	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs35868735	chr11:65685645-65685646	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs572025542	chr11:65685656-65685657	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs375631477	chr11:65685692-65685693	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs368300054	chr11:65685703-65685704	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs73496433	chr11:65685726-65685727	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560654723	chr11:65685735-65685736	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs529737845	chr11:65685757-65685758	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs73496435	chr11:65685767-65685768	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562725447	chr11:65685788-65685789	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs531939263	chr11:65685791-65685792	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs149477837	chr11:65685823-65685824	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs571811852	chr11:65685837-65685838	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs527692133	chr11:65685848-65685849	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs564192860	chr11:65685886-65685887	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs183268771	chr11:65685892-65685893	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs147158734	chr11:65685895-65685896	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs73496436	chr11:65685909-65685910	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556422380	chr11:65685927-65685928	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs569857401	chr11:65685957-65685958	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs538423736	chr11:65685958-65685959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs558823968	chr11:65685968-65685969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs9326361	chr11:65685970-65685971	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75734771	chr11:65685982-65685983	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs554135127	chr11:65685990-65685991	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs187987059	chr11:65686010-65686011	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs543091134	chr11:65686051-65686052	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs140418325	chr11:65686079-65686080	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
36	rs12273159	chr11:65686085-65686086	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563098299	chr11:65686100-65686101	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
38	rs545229118	chr11:65686105-65686106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
39	rs565573503	chr11:65686111-65686112	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs190464514	chr11:65686133-65686134	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs547850271	chr11:65686142-65686143	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs567645730	chr11:65686154-65686155	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
43	rs530090736	chr11:65686160-65686161	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
44	rs9795434	chr11:65686180-65686181	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371698984	chr11:65686207-65686208	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
46	rs9666530	chr11:65686254-65686255	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558469477	chr11:65686255-65686256	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
48	rs111998389	chr11:65686265-65686266	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
49	rs566006885	chr11:65686322-65686323	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
50	rs534587896	chr11:65686444-65686445	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65682200-65685800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:65682600-65685600	Enhancers	Fetal Heart	heart
3	chr11:65682600-65686000	Flanking Active TSS	Hela-S3	cervix
4	chr11:65682600-65686400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:65682800-65686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:65682800-65686200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:65683400-65686000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:65683400-65686000	Flanking Active TSS	HUVEC	blood vessel
9	chr11:65683600-65685800	Transcr. at gene 5' and 3'	NHLF	lung
10	chr11:65683800-65685600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:65683800-65685800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
12	chr11:65683800-65686000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:65683800-65686200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:65684000-65685600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:65684000-65685600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:65684000-65685800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:65684200-65686000	Transcr. at gene 5' and 3'	NHEK	skin
18	chr11:65684400-65685600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:65684400-65685600	Enhancers	Fetal Brain Male	brain
20	chr11:65684400-65685600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
21	chr11:65684400-65685800	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr11:65684400-65686000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:65684400-65686000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:65684400-65686000	Flanking Active TSS	HSMMtube	muscle
25	chr11:65684400-65686200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr11:65684400-65686400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
27	chr11:65684600-65685600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:65684600-65686000	Flanking Active TSS	Colonic Mucosa	Colon
29	chr11:65684600-65686000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:65684600-65686000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr11:65684600-65686000	Flanking Active TSS	GM12878-XiMat	blood
32	chr11:65684600-65686200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr11:65684600-65686200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr11:65684600-65686200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr11:65684600-65686200	Transcr. at gene 5' and 3'	Dnd41	blood
36	chr11:65684600-65686200	Flanking Active TSS	HMEC	breast
37	chr11:65684800-65685600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:65684800-65685600	Flanking Active TSS	Psoas Muscle	Psoas
39	chr11:65684800-65685600	Flanking Active TSS	HepG2	liver
40	chr11:65684800-65685800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
41	chr11:65684800-65685800	Flanking Active TSS	Esophagus	oesophagus
42	chr11:65684800-65685800	Flanking Active TSS	Fetal Brain Female	brain
43	chr11:65684800-65685800	Flanking Active TSS	Right Ventricle	heart
44	chr11:65684800-65686000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr11:65684800-65686000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr11:65684800-65686000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr11:65684800-65686000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr11:65685000-65685600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:65685000-65685600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:65685000-65685600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach

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