Variant report

Variant	esv3414055
Chromosome Location	chr11:64072226-64074424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1013)
CpG islands
(count:855)
Chromatin interactive
region (count:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1013 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:64072577-64072754	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:64071807-64072376	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:64071835-64072419	K562	blood:	n/a	n/a
4	ATF2	chr11:64071704-64072314	GM12878	blood:	n/a	n/a
5	ATF2	chr11:64071674-64072507	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:64071792-64072541	GM12878	blood:	n/a	n/a
7	ATF2	chr11:64071746-64072226	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr11:64072667-64073106	K562	blood:	n/a	chr11:64072951-64072960
9	BACH1	chr11:64073527-64074223	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr11:64071651-64072844	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr11:64071578-64072408	A549	lung:	n/a	n/a
12	BCL3	chr11:64073338-64074123	A549	lung:	n/a	chr11:64073433-64073446 chr11:64073901-64073914
13	BCLAF1	chr11:64073304-64073805	GM12878	blood:	n/a	chr11:64073433-64073446
14	BCLAF1	chr11:64071713-64072297	GM12878	blood:	n/a	n/a
15	BHLHE40	chr11:64071795-64073133	GM12878	blood:	n/a	chr11:64072871-64072887 chr11:64073053-64073069 chr11:64072824-64072840
16	BHLHE40	chr11:64071821-64073136	K562	blood:	n/a	chr11:64072871-64072887 chr11:64073053-64073069 chr11:64072824-64072840
17	BHLHE40	chr11:64071799-64072983	HepG2	liver:	n/a	chr11:64072871-64072887 chr11:64072824-64072840
18	BHLHE40	chr11:64072138-64072434	A549	lung:	n/a	n/a
19	BHLHE40	chr11:64073503-64074185	K562	blood:	n/a	n/a
20	BRCA1	chr11:64071797-64072924	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr11:64073482-64073663	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr11:64071853-64072351	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr11:64072123-64072349	GM12878	blood:	n/a	n/a
24	BRCA1	chr11:64072307-64072690	HepG2	liver:	n/a	n/a
25	CBX3	chr11:64071689-64072868	K562	blood:	n/a	n/a
26	CBX3	chr11:64073301-64073842	K562	blood:	n/a	n/a
27	CCNT2	chr11:64071805-64073951	K562	blood:	n/a	chr11:64072951-64072960 chr11:64072782-64072791 chr11:64072983-64072992 chr11:64072518-64072527
28	CEBPB	chr11:64072154-64073022	A549	lung:	n/a	n/a
29	CEBPB	chr11:64074414-64074711	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr11:64072538-64072816	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr11:64071804-64072931	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr11:64074419-64074708	IMR90	lung:	n/a	n/a
33	CEBPB	chr11:64072606-64072807	HepG2	liver:	n/a	n/a
34	CEBPB	chr11:64073500-64073798	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr11:64072574-64072778	HepG2	liver:	n/a	n/a
36	CEBPB	chr11:64072505-64072807	A549	lung:	n/a	n/a
37	CEBPB	chr11:64074325-64074674	HepG2	liver:	n/a	n/a
38	CEBPB	chr11:64072533-64072876	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr11:64074371-64074750	HepG2	liver:	n/a	n/a
40	CEBPB	chr11:64072596-64072796	K562	blood:	n/a	n/a
41	CEBPB	chr11:64072185-64072907	HepG2	liver:	n/a	n/a
42	CEBPB	chr11:64074387-64074768	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPB	chr11:64074412-64074678	HepG2	liver:	n/a	n/a
44	CEBPB	chr11:64074294-64074776	A549	lung:	n/a	n/a
45	CEBPB	chr11:64072526-64072894	A549	lung:	n/a	n/a
46	CEBPB	chr11:64074343-64074693	MCF-7	breast:	n/a	n/a
47	CEBPB	chr11:64072306-64072914	HepG2	liver:	n/a	n/a
48	CEBPB	chr11:64071836-64072327	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr11:64072418-64072911	K562	blood:	n/a	n/a
50	CEBPB	chr11:64072307-64072915	K562	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64073542-64073592	HepG2	liver:	n/a
2	chr11:64073542-64073592	HepG2	liver:	n/a
3	chr11:64073710-64073760	AoSMC	blood vessel:	n/a
4	chr11:64073849-64073899	AG04449	skin:	fetal
5	chr11:64073530-64073580	SAEC	small airway:	n/a
6	chr11:64073530-64073580	AG04449	skin:	fetal
7	chr11:64073594-64073644	GM06990	blood:	n/a
8	chr11:64073542-64073592	Jurkat	blood:	n/a
9	chr11:64072922-64072972	HAEpiC	amniotic membrane:	n/a
10	chr11:64072922-64072972	SK-N-SH_RA	brain:	n/a
11	chr11:64072693-64072743	HCM	heart:	n/a
12	chr11:64073390-64073440	HNPCEpiC	eye:	n/a
13	chr11:64072910-64072960	IMR90	lung:	fetal
14	chr11:64073057-64073107	SKMC	muscle:	n/a
15	chr11:64073542-64073592	GM12892	blood:	n/a
16	chr11:64073710-64073760	HIPEpiC	eye:	n/a
17	chr11:64073135-64073185	HepG2	liver:	n/a
18	chr11:64073849-64073899	Hepatocyte	liver:	n/a
19	chr11:64072922-64072972	NHBE	bronchial:	n/a
20	chr11:64073710-64073760	HEK293	kidney:	embryo
21	chr11:64073390-64073440	AG04450	lung:	fetal
22	chr11:64072693-64072743	NB4	blood:	n/a
23	chr11:64073135-64073185	HRCEpiC	kidney:	n/a
24	chr11:64072693-64072743	GM06990	blood:	n/a
25	chr11:64072910-64072960	RPTEC	kidney:	n/a
26	chr11:64072922-64072972	BE2_C	brain:	n/a
27	chr11:64073849-64073899	HCM	heart:	n/a
28	chr11:64073849-64073899	GM12891	blood:	n/a
29	chr11:64074137-64074187	LNCaP	prostate:	n/a
30	chr11:64073057-64073107	ProgFib	skin:	n/a
31	chr11:64073135-64073185	HL-60	blood:	n/a
32	chr11:64073390-64073440	ECC-1	luminal epithelium:	n/a
33	chr11:64073135-64073185	PrEC	prostate:	n/a
34	chr11:64073710-64073760	Jurkat	blood:	n/a
35	chr11:64072691-64072741	AG09319	gingival:	n/a
36	chr11:64073594-64073644	H1-hESC	embryonic stem cell:	embryo
37	chr11:64073849-64073899	Caco-2	colon:	n/a
38	chr11:64073710-64073760	GM12878	blood:	n/a
39	chr11:64073594-64073644	AG09309	skin:	n/a
40	chr11:64073710-64073760	RPTEC	kidney:	n/a
41	chr11:64072693-64072743	NH-A	brain:	n/a
42	chr11:64072693-64072743	AG10803	skin:	n/a
43	chr11:64074137-64074187	AG04449	skin:	fetal
44	chr11:64072693-64072743	GM12891	blood:	n/a
45	chr11:64072922-64072972	Caco-2	colon:	n/a
46	chr11:64073849-64073899	NB4	blood:	n/a
47	chr11:64073594-64073644	Hepatocyte	liver:	n/a
48	chr11:64073542-64073592	AG09319	gingival:	n/a
49	chr11:64073710-64073760	ECC-1	luminal epithelium:	n/a
50	chr11:64073135-64073185	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:63856005..63856553-chr11:64071751..64072475,2	MCF-7	breast:
2	chr11:64071933..64072719-chr6:52285039..52285693,2	Hela-S3	cervix:
3	chr11:64070250..64072559-chr11:64125217..64126731,2	MCF-7	breast:
4	chr11:64072803..64073317-chr17:46985374..46986245,2	Hela-S3	cervix:
5	chr11:63971732..63972680-chr11:64071516..64072440,6	MCF-7	breast:
6	chr11:64071812..64072774-chr6:35436013..35436898,2	NB4	blood:
7	chr11:64073207..64075347-chr11:64577929..64579925,2	MCF-7	breast:
8	chr11:64071328..64072338-chr11:64111400..64111928,3	MCF-7	breast:
9	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:
10	chr11:64052533..64053108-chr11:64071541..64072443,2	K562	blood:
11	chr11:64071993..64072541-chr19:11492109..11492919,2	Hela-S3	cervix:
12	chr11:64001731..64003390-chr11:64072435..64074262,2	MCF-7	breast:
13	chr11:63950774..63958537-chr11:64070493..64074690,13	MCF-7	breast:
14	chr11:64072825..64073578-chr17:27716640..27717499,2	Hela-S3	cervix:
15	chr11:64071758..64072503-chr3:186501238..186501821,2	Hela-S3	cervix:
16	chr11:64072878..64073549-chrX:14047651..14048574,2	Hela-S3	cervix:
17	chr11:64071999..64072633-chr14:35099173..35099713,2	Hela-S3	cervix:
18	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
19	chr11:64072118..64072934-chr14:69445350..69446158,2	Hela-S3	cervix:
20	chr11:63752274..63755193-chr11:64072992..64074621,2	MCF-7	breast:
21	chr11:64062581..64067286-chr11:64069885..64074549,10	MCF-7	breast:
22	chr11:64071995..64074529-chr11:64215478..64217997,2	K562	blood:
23	chr1:149223959..149224602-chr11:64072832..64073816,2	Hela-S3	cervix:
24	chr11:64072048..64072710-chr19:10491196..10491937,2	Hela-S3	cervix:
25	chr11:64013130..64014057-chr11:64072094..64072616,2	Hela-S3	cervix:
26	chr11:64073471..64074042-chr11:64111429..64111971,2	MCF-7	breast:
27	chr11:64072037..64072570-chr11:64085534..64086120,2	Hela-S3	cervix:
28	chr11:63448710..63449211-chr11:64072053..64072727,2	Hela-S3	cervix:
29	chr11:64001770..64003427-chr11:64071826..64073538,2	MCF-7	breast:
30	chr11:64072964..64073671-chrX:119763784..119764639,2	Hela-S3	cervix:
31	chr11:64072922..64075153-chr11:64420349..64423675,3	MCF-7	breast:
32	chr11:63951617..63953554-chr11:64071921..64074266,2	MCF-7	breast:
33	chr11:64072999..64073681-chr17:18907689..18908393,2	Hela-S3	cervix:
34	chr11:64072051..64072895-chr2:20648638..20649411,2	Hela-S3	cervix:
35	chr11:64072828..64073662-chr8:124084778..124085533,2	Hela-S3	cervix:
36	chr11:64072715..64075742-chr11:64108562..64111155,5	MCF-7	breast:
37	chr1:145382461..145383459-chr11:64073401..64073903,2	Hela-S3	cervix:
38	chr11:64012813..64019826-chr11:64070484..64074683,9	MCF-7	breast:
39	chr11:64072491..64073482-chr19:39896853..39897736,2	Hela-S3	cervix:
40	chr11:64073758..64075517-chr11:64122696..64124221,2	K562	blood:
41	chr11:64070461..64072737-chr2:174827568..174830464,2	K562	blood:
42	chr11:64070411..64072227-chr11:64108642..64111595,2	MCF-7	breast:
43	chr11:63932104..63935640-chr11:64072605..64074491,3	MCF-7	breast:
44	chr11:64069494..64072253-chr11:64119496..64122184,3	MCF-7	breast:
45	chr11:64073223..64074022-chr12:56551543..56552410,2	Hela-S3	cervix:
46	chr11:63997990..64000103-chr11:64070945..64073334,3	MCF-7	breast:
47	chr11:64005251..64012775-chr11:64065543..64076594,19	MCF-7	breast:
48	chr11:63990938..63995618-chr11:64068467..64075569,11	MCF-7	breast:
49	chr11:63997014..63999742-chr11:64070693..64073511,5	MCF-7	breast:
50	chr11:63973802..63976476-chr11:64070377..64073257,2	MCF-7	breast:

No data

Variant related genes	Relation type
ESRRA	TF binding region
ESRRA	CpG island
ENSG00000159202	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000133895	chromatin interactions
ENSG00000182450	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000096093	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000173457	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000133318	chromatin interactions
ENSG00000171155	chromatin interactions
ENSG00000172845	chromatin interactions
ENSG00000046647	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000181908	chromatin interactions
ENSG00000185730	chromatin interactions
ENSG00000149743	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000149782	chromatin interactions
ENSG00000072110	chromatin interactions
ENSG00000257086	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000256116	chromatin interactions
ENSG00000110011	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000160551	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000156787	chromatin interactions
ENSG00000183092	chromatin interactions
ENSG00000149781	chromatin interactions
ENSG00000167770	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000149761	chromatin interactions
ENSG00000207024	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000002330	chromatin interactions
ENSG00000256940	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000010318	chromatin interactions
ENSG00000129515	chromatin interactions
ENSG00000257809	chromatin interactions
ENSG00000188522	chromatin interactions
ENSG00000105397	chromatin interactions
ENSG00000156976	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000110076	chromatin interactions
ENSG00000107362	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2286613	chr11:64072244-64072245	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	35 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3217060	chr11:64072302-64072303	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
3	rs182296875	chr11:64072351-64072352	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
4	rs41294371	chr11:64072356-64072357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
5	rs572282220	chr11:64072395-64072396	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
6	rs538956792	chr11:64072430-64072431	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
7	rs540489311	chr11:64072510-64072511	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
8	rs559927581	chr11:64072512-64072513	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
9	rs541273630	chr11:64072517-64072518	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
10	rs528858920	chr11:64072522-64072523	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
11	rs548849260	chr11:64072523-64072524	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
12	rs568921408	chr11:64072526-64072527	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
13	rs150794500	chr11:64072527-64072528	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
14	rs533427018	chr11:64072533-64072534	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
15	rs551603356	chr11:64072688-64072689	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
16	rs41294373	chr11:64072859-64072860	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
17	rs571434528	chr11:64072973-64072974	Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
18	rs41294375	chr11:64072993-64072994	Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
19	rs554089174	chr11:64073058-64073059	Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
20	rs566802559	chr11:64073103-64073104	Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
21	rs113980709	chr11:64073157-64073158	Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
22	rs376330846	chr11:64073325-64073326	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
23	rs41294376	chr11:64073326-64073327	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs41294378	chr11:64073337-64073338	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
25	rs555435448	chr11:64073361-64073362	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
26	rs575697371	chr11:64073413-64073414	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
27	rs371705706	chr11:64073451-64073452	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
28	rs557943953	chr11:64073471-64073472	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
29	rs577799651	chr11:64073473-64073474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
30	rs540552530	chr11:64073498-64073499	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
31	rs560834494	chr11:64073562-64073563	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
32	rs573592089	chr11:64073603-64073604	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
33	rs542615534	chr11:64073721-64073722	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
34	rs562296602	chr11:64073723-64073724	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
35	rs35596363	chr11:64073743-64073744	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
36	rs531451814	chr11:64073764-64073765	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
37	rs182466924	chr11:64073817-64073818	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
38	rs41294380	chr11:64073878-64073879	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527481482	chr11:64073939-64073940	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
40	rs376411679	chr11:64073968-64073969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
41	rs547415527	chr11:64073982-64073983	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
42	rs145235205	chr11:64074081-64074082	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs567561055	chr11:64074099-64074100	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs536110697	chr11:64074131-64074132	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs41294382	chr11:64074145-64074146	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552179187	chr11:64074166-64074167	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs370104253	chr11:64074211-64074212	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs537981467	chr11:64074237-64074238	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs532491139	chr11:64074271-64074272	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs557808388	chr11:64074304-64074305	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	20 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
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	21785460	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

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64071200-64072400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:64071200-64072400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:64071200-64073000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:64071400-64072400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr11:64071400-64072400	Flanking Active TSS	Colonic Mucosa	Colon
6	chr11:64071400-64072400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:64071400-64072400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr11:64071400-64072400	Flanking Active TSS	Dnd41	blood
9	chr11:64071600-64072400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:64071600-64072400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:64071600-64072400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr11:64071600-64072400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr11:64071600-64072400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr11:64071600-64072400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:64071600-64072400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr11:64071600-64072400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr11:64071600-64072400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:64071600-64072400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:64071600-64072400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:64071600-64072400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr11:64071600-64072400	Flanking Active TSS	Liver	Liver
22	chr11:64071600-64072400	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr11:64071600-64072400	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr11:64071600-64072400	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr11:64071600-64072400	Flanking Active TSS	HMEC	breast
26	chr11:64071600-64072400	Flanking Active TSS	NH-A	brain
27	chr11:64071600-64072400	Flanking Active TSS	Osteobl	bone
28	chr11:64071600-64072600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:64071600-64073600	Active TSS	Fetal Lung	lung
30	chr11:64071800-64072400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:64071800-64072400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:64071800-64072400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr11:64071800-64072400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr11:64071800-64072400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr11:64071800-64072400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr11:64071800-64072400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:64071800-64072400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:64071800-64072400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr11:64071800-64072400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr11:64071800-64072400	Active TSS	Fetal Heart	heart
41	chr11:64071800-64072400	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr11:64071800-64072400	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr11:64071800-64072400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr11:64071800-64072400	Flanking Active TSS	Placenta	Placenta
45	chr11:64071800-64072400	Flanking Active TSS	Fetal Thymus	thymus
46	chr11:64071800-64072400	Flanking Active TSS	Pancreas	Pancrea
47	chr11:64071800-64072400	Flanking Active TSS	Stomach Mucosa	stomach
48	chr11:64071800-64072400	Flanking Active TSS	HUVEC	blood vessel
49	chr11:64071800-64072400	Flanking Active TSS	NHEK	skin
50	chr11:64071800-64072600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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