Variant report

Variant	esv3389914
Chromosome Location	chr14:105443857-105446155
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	BACH1	chr14:105444162-105444420	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr14:105443346-105443957	A549	lung:	n/a	n/a
3	BHLHE40	chr14:105444271-105444273	K562	blood:	n/a	n/a
4	CCNT2	chr14:105444353-105444868	K562	blood:	n/a	chr14:105444411-105444420
5	CEBPD	chr14:105444592-105444801	HepG2	liver:	n/a	n/a
6	CHD2	chr14:105444628-105444944	Hela-S3	cervix:	n/a	chr14:105444653-105444663
7	CREB1	chr14:105444338-105444931	A549	lung:	n/a	n/a
8	CTCF	chr14:105444840-105444990	Caco-2	colon:	n/a	n/a
9	CTCF	chr14:105444880-105445030	HepG2	liver:	n/a	n/a
10	CTCF	chr14:105444920-105445070	HepG2	liver:	n/a	n/a
11	CTCF	chr14:105443860-105444010	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr14:105441554-105444096	SK-N-SH	brain:	n/a	chr14:105442613-105442631 chr14:105442766-105442774 chr14:105443794-105443812 chr14:105442615-105442636 chr14:105442616-105442629 chr14:105442616-105442625 chr14:105442618-105442628 chr14:105442353-105442362 chr14:105442206-105442224 chr14:105442614-105442630
13	E2F4	chr14:105444633-105444942	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F6	chr14:105444543-105444726	K562	blood:	n/a	n/a
15	E2F6	chr14:105444251-105444432	K562	blood:	n/a	chr14:105444411-105444420
16	E2F6	chr14:105444461-105444842	K562	blood:	n/a	n/a
17	E2F6	chr14:105444870-105445004	K562	blood:	n/a	n/a
18	ELK1	chr14:105446130-105446633	Hela-S3	cervix:	n/a	n/a
19	EP300	chr14:105446128-105447119	ECC-1	luminal epithelium:	n/a	chr14:105446676-105446685 chr14:105446968-105446981
20	FOS	chr14:105446137-105446877	Hela-S3	cervix:	n/a	chr14:105446674-105446685 chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
21	FOS	chr14:105446094-105446854	MCF10A-Er-Src	breast:	n/a	chr14:105446674-105446685 chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
22	FOXP2	chr14:105444409-105444852	PFSK-1	brain:	n/a	n/a
23	GATA3	chr14:105445912-105447063	MCF-7	breast:	n/a	chr14:105446479-105446486 chr14:105446479-105446486 chr14:105446479-105446486
24	GATA3	chr14:105446089-105447047	SK-N-SH	brain:	n/a	chr14:105446479-105446486 chr14:105446479-105446486 chr14:105446479-105446486
25	HA-E2F1	chr14:105444303-105444909	Hela-S3	cervix:	n/a	chr14:105444454-105444468 chr14:105444411-105444420
26	HEY1	chr14:105444570-105444808	K562	blood:	n/a	chr14:105444660-105444675 chr14:105444680-105444695 chr14:105444643-105444658 chr14:105444651-105444666 chr14:105444779-105444794
27	HEY1	chr14:105444509-105444829	HepG2	liver:	n/a	chr14:105444660-105444675 chr14:105444680-105444695 chr14:105444643-105444658 chr14:105444651-105444666 chr14:105444779-105444794
28	HMGN3	chr14:105445114-105445307	K562	blood:	n/a	n/a
29	HMGN3	chr14:105444441-105444863	K562	blood:	n/a	n/a
30	HNF4A	chr14:105444792-105445107	HepG2	liver:	n/a	chr14:105444915-105444930 chr14:105444921-105444929 chr14:105444916-105444930 chr14:105444915-105444930
31	IRF1	chr14:105444628-105445093	K562	blood:	n/a	chr14:105444829-105444838 chr14:105444759-105444773
32	IRF1	chr14:105444616-105444861	K562	blood:	n/a	chr14:105444829-105444838 chr14:105444759-105444773
33	MAFK	chr14:105443645-105443870	Hela-S3	cervix:	n/a	n/a
34	MAFK	chr14:105446128-105446288	HepG2	liver:	n/a	n/a
35	MAX	chr14:105444691-105444854	A549	lung:	n/a	n/a
36	MAX	chr14:105446003-105447056	A549	lung:	n/a	n/a
37	MAX	chr14:105444325-105444512	K562	blood:	n/a	n/a
38	MAX	chr14:105444628-105444831	Hela-S3	cervix:	n/a	n/a
39	MAX	chr14:105441869-105444972	A549	lung:	n/a	chr14:105443049-105443059 chr14:105443248-105443258
40	MAX	chr14:105446061-105446910	Hela-S3	cervix:	n/a	n/a
41	MAX	chr14:105444672-105444753	HepG2	liver:	n/a	n/a
42	MAX	chr14:105444151-105444880	K562	blood:	n/a	n/a
43	MAX	chr14:105443532-105444293	Hela-S3	cervix:	n/a	n/a
44	MAX	chr14:105444321-105444817	K562	blood:	n/a	n/a
45	MAX	chr14:105443986-105445690	HepG2	liver:	n/a	chr14:105445203-105445212 chr14:105445577-105445587
46	MAX	chr14:105445031-105445310	K562	blood:	n/a	chr14:105445203-105445212
47	MAX	chr14:105443444-105444783	A549	lung:	n/a	n/a
48	MAZ	chr14:105444635-105444850	Hela-S3	cervix:	n/a	n/a
49	MAZ	chr14:105444215-105445372	IMR90	lung:	n/a	chr14:105445203-105445212
50	MAZ	chr14:105444654-105444916	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105444384-105444434	RPTEC	kidney:	n/a
2	chr14:105444384-105444434	RPTEC	kidney:	n/a
3	chr14:105445065-105445115	MCF10A-Er-Src	breast:	n/a
4	chr14:105444724-105444774	SK-N-SH	brain:	n/a
5	chr14:105445253-105445303	Hela-S3	cervix:	n/a
6	chr14:105444897-105444947	SK-N-SH	brain:	n/a
7	chr14:105445224-105445274	AG04450	lung:	fetal
8	chr14:105444874-105444924	Caco-2	colon:	n/a
9	chr14:105444897-105444947	A549	lung:	n/a
10	chr14:105444897-105444947	MCF-7	breast:	n/a
11	chr14:105445224-105445274	H1-hESC	embryonic stem cell:	embryo
12	chr14:105444724-105444774	HRCEpiC	kidney:	n/a
13	chr14:105445065-105445115	AG04450	lung:	fetal
14	chr14:105444724-105444774	GM12878	blood:	n/a
15	chr14:105445253-105445303	AG10803	skin:	n/a
16	chr14:105444575-105444625	K562	blood:	n/a
17	chr14:105444575-105444625	MCF-7	breast:	n/a
18	chr14:105445253-105445303	CMK	blood:	n/a
19	chr14:105445224-105445274	NT2-D1	testis:	n/a
20	chr14:105444575-105444625	HIPEpiC	eye:	n/a
21	chr14:105444724-105444774	Hepatocyte	liver:	n/a
22	chr14:105444910-105444960	Caco-2	colon:	n/a
23	chr14:105444910-105444960	H1-hESC	embryonic stem cell:	embryo
24	chr14:105445065-105445115	MCF-7	breast:	n/a
25	chr14:105444384-105444434	Caco-2	colon:	n/a
26	chr14:105444384-105444434	HCF	heart:	n/a
27	chr14:105444904-105444954	HepG2	liver:	n/a
28	chr14:105444874-105444924	MCF-7	breast:	n/a
29	chr14:105444575-105444625	HUVEC	blood vessel:	n/a
30	chr14:105444910-105444960	MCF-7	breast:	n/a
31	chr14:105444874-105444924	ovcar-3	ovarian:	n/a
32	chr14:105444575-105444625	SK-N-MC	brain:	n/a
33	chr14:105444874-105444924	NHBE	bronchial:	n/a
34	chr14:105445224-105445274	HCM	heart:	n/a
35	chr14:105444910-105444960	PrEC	prostate:	n/a
36	chr14:105444874-105444924	GM12892	blood:	n/a
37	chr14:105444910-105444960	NB4	blood:	n/a
38	chr14:105444724-105444774	HepG2	liver:	n/a
39	chr14:105444904-105444954	A549	lung:	n/a
40	chr14:105444575-105444625	GM12878	blood:	n/a
41	chr14:105444897-105444947	ECC-1	luminal epithelium:	n/a
42	chr14:105444384-105444434	NHDF-neo	bronchial:	n/a
43	chr14:105445065-105445115	HCM	heart:	n/a
44	chr14:105445253-105445303	GM06990	blood:	n/a
45	chr14:105445065-105445115	Caco-2	colon:	n/a
46	chr14:105445224-105445274	MCF10A-Er-Src	breast:	n/a
47	chr14:105444874-105444924	AG10803	skin:	n/a
48	chr14:105444897-105444947	HCF	heart:	n/a
49	chr14:105444910-105444960	IMR90	lung:	fetal
50	chr14:105444904-105444954	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105442175..105444429-chr14:105444520..105447131,2	K562	blood:
2	chr14:105445779..105447281-chr14:105498227..105500995,2	MCF-7	breast:
3	chr14:105329992..105332567-chr14:105443160..105445644,3	MCF-7	breast:
4	chr14:105265965..105267568-chr14:105442748..105445496,2	MCF-7	breast:
5	chr14:105445649..105448428-chr14:105631488..105633523,2	MCF-7	breast:
6	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:
7	chr14:105443928..105445902-chr14:105765680..105767557,2	MCF-7	breast:
8	chr14:105444640..105445585-chr5:149736965..149737755,2	Hela-S3	cervix:
9	chr14:105445221..105446848-chr14:105764774..105767767,2	K562	blood:
10	chr14:105442698..105444680-chr14:105485412..105488707,3	K562	blood:
11	chr14:105440890..105445623-chr14:105485614..105489562,6	MCF-7	breast:
12	chr14:105261681..105264088-chr14:105440432..105444268,3	MCF-7	breast:
13	chr14:105442006..105443959-chr14:105511075..105512715,25	MCF-7	breast:
14	chr14:105442748..105444564-chr14:105532745..105535377,2	MCF-7	breast:
15	chr14:105441584..105444154-chr14:105510721..105515062,5	K562	blood:
16	chr14:105441966..105444390-chr14:105493852..105497490,3	MCF-7	breast:
17	chr14:105441389..105444198-chr14:105485839..105488707,2	K562	blood:
18	chr14:105444894..105446599-chr14:105520468..105523261,2	MCF-7	breast:
19	chr14:105441981..105444790-chr14:105863308..105866164,2	MCF-7	breast:
20	chr14:105443757..105444660-chr14:105510431..105511022,2	MCF-7	breast:
21	chr14:105441376..105443921-chr14:105550710..105553221,2	MCF-7	breast:
22	chr14:105444254..105445137-chr5:95998330..95998953,2	Hela-S3	cervix:
23	chr14:105442218..105444582-chr14:105521648..105524128,2	MCF-7	breast:
24	chr14:105443512..105446839-chr14:105449245..105453481,5	K562	blood:
25	chr14:105444542..105445048-chr17:33307717..33308353,2	Hela-S3	cervix:
26	chr14:105444730..105447554-chr14:105478549..105481250,3	MCF-7	breast:
27	chr14:105389558..105391968-chr14:105443207..105445217,2	MCF-7	breast:
28	chr14:105444693..105446444-chr14:105485592..105488194,3	K562	blood:
29	chr14:105440794..105444073-chr14:105510721..105514386,4	K562	blood:
30	chr14:105218537..105220486-chr14:105444127..105446003,2	MCF-7	breast:
31	chr14:105445145..105447583-chr14:105504457..105506627,3	MCF-7	breast:
32	chr14:105397847..105399946-chr14:105442912..105445708,2	MCF-7	breast:

Variant related genes	Relation type
AHNAK2	TF binding region
AHNAK2	CpG island
ENSG00000070814	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000153113	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000226174	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000179364	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000132141	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000183484	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000185024	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569617152	chr14:105443905-105443906	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs367660138	chr14:105443950-105443951	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs535322764	chr14:105443958-105443959	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs2582491	chr14:105443964-105443965	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs571939107	chr14:105443986-105443987	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs79062923	chr14:105443997-105443998	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs180913733	chr14:105444008-105444009	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs56058013	chr14:105444012-105444013	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs140490631	chr14:105444056-105444057	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs185180201	chr14:105444093-105444094	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs532061349	chr14:105444097-105444098	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs542511675	chr14:105444158-105444159	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs562345521	chr14:105444217-105444218	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs527911523	chr14:105444241-105444242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs547958863	chr14:105444255-105444256	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs570903044	chr14:105444290-105444291	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs560378927	chr14:105444490-105444491	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs377297343	chr14:105444499-105444500	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs549771877	chr14:105444576-105444577	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs569679227	chr14:105444597-105444598	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs535435703	chr14:105444677-105444678	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs145620270	chr14:105444702-105444703	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs565955423	chr14:105444709-105444710	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs534562950	chr14:105444755-105444756	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs557890645	chr14:105444797-105444798	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs113641289	chr14:105444844-105444845	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs577677128	chr14:105444885-105444886	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs543509498	chr14:105445008-105445009	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs2582490	chr14:105445016-105445017	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs138147233	chr14:105445037-105445038	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs542626736	chr14:105445121-105445122	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs562406588	chr14:105445149-105445150	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs572540934	chr14:105445158-105445159	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs572694725	chr14:105445165-105445166	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs541268522	chr14:105445166-105445167	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs564660955	chr14:105445180-105445181	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs533281883	chr14:105445186-105445187	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs549892507	chr14:105445188-105445189	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs563428451	chr14:105445316-105445317	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs375261490	chr14:105445395-105445396	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs529289122	chr14:105445397-105445398	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs2819455	chr14:105445412-105445413	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs77971640	chr14:105445428-105445429	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs542812465	chr14:105445431-105445432	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs573089111	chr14:105445451-105445452	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs551304537	chr14:105445491-105445492	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs561149299	chr14:105445527-105445528	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs537219697	chr14:105445579-105445580	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs149099146	chr14:105445583-105445584	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs573767717	chr14:105445586-105445587	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105433000-105445400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr14:105434600-105444000	Weak transcription	Aorta	Aorta
3	chr14:105437400-105444000	Enhancers	Pancreas	Pancrea
4	chr14:105438000-105446800	Enhancers	Lung	lung
5	chr14:105439600-105445400	Enhancers	Spleen	Spleen
6	chr14:105440200-105444000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:105440400-105444000	Enhancers	Right Ventricle	heart
8	chr14:105440600-105444000	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr14:105441600-105444000	Enhancers	Gastric	stomach
10	chr14:105441800-105444400	Bivalent Enhancer	Placenta	Placenta
11	chr14:105441800-105446800	Enhancers	Fetal Heart	heart
12	chr14:105442000-105444000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:105442000-105444000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr14:105442000-105444000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr14:105442200-105444000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:105442200-105444000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr14:105442200-105444000	Enhancers	Liver	Liver
18	chr14:105442200-105444000	Enhancers	NH-A	brain
19	chr14:105442600-105444000	Flanking Active TSS	Hela-S3	cervix
20	chr14:105442800-105444000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr14:105442800-105444000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr14:105442800-105444000	Flanking Active TSS	NHEK	skin
23	chr14:105442800-105444400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:105443000-105444000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:105443000-105444000	Enhancers	Adipose Nuclei	Adipose
26	chr14:105443000-105444000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
27	chr14:105443000-105444000	Weak transcription	HUVEC	blood vessel
28	chr14:105443000-105444000	Weak transcription	K562	blood
29	chr14:105443000-105444200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:105443000-105444400	Flanking Active TSS	HMEC	breast
31	chr14:105443000-105445600	Enhancers	Fetal Brain Male	brain
32	chr14:105443200-105444000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:105443200-105444200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:105443200-105444200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:105443400-105444000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:105443400-105444000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr14:105443400-105444000	Enhancers	Brain Substantia Nigra	brain
38	chr14:105443400-105444200	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr14:105443400-105444200	Enhancers	Fetal Lung	lung
40	chr14:105443400-105444600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr14:105443400-105444600	Flanking Active TSS	Esophagus	oesophagus
42	chr14:105443400-105444600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr14:105443600-105444000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:105443600-105444000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr14:105443600-105444000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
46	chr14:105443600-105444000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
47	chr14:105443600-105444000	Enhancers	Psoas Muscle	Psoas
48	chr14:105443600-105444000	Active TSS	HSMMtube	muscle
49	chr14:105443600-105444200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr14:105443600-105444400	Bivalent Enhancer	Primary B cells from cord blood	blood

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