Variant report

Variant	esv3325583
Chromosome Location	chr14:105444107-105448405
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	ATF1	chr14:105446161-105446560	K562	blood:	n/a	n/a
2	BACH1	chr14:105444162-105444420	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr14:105446506-105446752	HepG2	liver:	n/a	n/a
4	BHLHE40	chr14:105444271-105444273	K562	blood:	n/a	n/a
5	BRCA1	chr14:105446433-105446988	Hela-S3	cervix:	n/a	n/a
6	CCNT2	chr14:105444353-105444868	K562	blood:	n/a	chr14:105444411-105444420
7	CEBPB	chr14:105446441-105446906	Hela-S3	cervix:	n/a	n/a
8	CEBPD	chr14:105444592-105444801	HepG2	liver:	n/a	n/a
9	CHD2	chr14:105444628-105444944	Hela-S3	cervix:	n/a	chr14:105444653-105444663
10	CHD2	chr14:105446540-105446858	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr14:105444338-105444931	A549	lung:	n/a	n/a
12	CTCF	chr14:105446700-105446850	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr14:105444840-105444990	Caco-2	colon:	n/a	n/a
14	CTCF	chr14:105444920-105445070	HepG2	liver:	n/a	n/a
15	CTCF	chr14:105444880-105445030	HepG2	liver:	n/a	n/a
16	E2F4	chr14:105444633-105444942	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr14:105446511-105446841	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F6	chr14:105444543-105444726	K562	blood:	n/a	n/a
19	E2F6	chr14:105444251-105444432	K562	blood:	n/a	chr14:105444411-105444420
20	E2F6	chr14:105444870-105445004	K562	blood:	n/a	n/a
21	E2F6	chr14:105444461-105444842	K562	blood:	n/a	n/a
22	EBF1	chr14:105446583-105446895	GM12878	blood:	n/a	n/a
23	ELF1	chr14:105446263-105446617	K562	blood:	n/a	n/a
24	ELK1	chr14:105446130-105446633	Hela-S3	cervix:	n/a	n/a
25	ELK4	chr14:105446264-105446700	Hela-S3	cervix:	n/a	n/a
26	EP300	chr14:105446128-105447119	ECC-1	luminal epithelium:	n/a	chr14:105446676-105446685 chr14:105446968-105446981
27	EP300	chr14:105446448-105446927	SK-N-SH_RA	brain:	n/a	chr14:105446676-105446685
28	EP300	chr14:105446330-105446891	Hela-S3	cervix:	n/a	chr14:105446676-105446685
29	EP300	chr14:105446286-105446934	SK-N-SH_RA	brain:	n/a	chr14:105446676-105446685
30	ESR1	chr14:105446426-105446867	ECC-1	luminal epithelium:	n/a	n/a
31	ESR1	chr14:105446332-105446836	ECC-1	luminal epithelium:	n/a	n/a
32	FOS	chr14:105446201-105446876	MCF10A-Er-Src	breast:	n/a	chr14:105446674-105446685 chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
33	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
34	FOS	chr14:105446489-105446804	HUVEC	blood vessel:	n/a	chr14:105446674-105446685 chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
35	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
36	FOS	chr14:105446277-105446851	MCF10A-Er-Src	breast:	n/a	chr14:105446674-105446685 chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
37	FOS	chr14:105446421-105446884	MCF10A-Er-Src	breast:	n/a	chr14:105446674-105446685 chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
38	FOSL1	chr14:105446284-105447028	HCT-116	colon:	n/a	chr14:105446674-105446685 chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
39	FOSL1	chr14:105446470-105446795	K562	blood:	n/a	chr14:105446674-105446685 chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
40	FOSL1	chr14:105446586-105446740	K562	blood:	n/a	chr14:105446674-105446685 chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
41	FOSL1	chr14:105446286-105447024	HCT-116	colon:	n/a	chr14:105446674-105446685 chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
42	FOSL2	chr14:105446284-105446968	SK-N-SH	brain:	n/a	chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
43	FOSL2	chr14:105446340-105446857	A549	lung:	n/a	chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
44	FOSL2	chr14:105446331-105446854	HepG2	liver:	n/a	chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
45	FOSL2	chr14:105446287-105446986	A549	lung:	n/a	chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
46	FOSL2	chr14:105446204-105446855	HepG2	liver:	n/a	chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
47	FOSL2	chr14:105446165-105447001	MCF-7	breast:	n/a	chr14:105446675-105446684 chr14:105446676-105446685 chr14:105446676-105446683 chr14:105446675-105446685 chr14:105446674-105446686
48	FOXP2	chr14:105444409-105444852	PFSK-1	brain:	n/a	n/a
49	GATA2	chr14:105446265-105446871	SH-SY5Y	brain:	n/a	chr14:105446479-105446486 chr14:105446479-105446486 chr14:105446479-105446486
50	GATA2	chr14:105446276-105446729	HUVEC	blood vessel:	n/a	chr14:105446479-105446486 chr14:105446479-105446486 chr14:105446479-105446486

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105444910-105444960	AoSMC	blood vessel:	n/a
2	chr14:105445065-105445115	SAEC	small airway:	n/a
3	chr14:105444384-105444434	HEEpiC	esophagus:	n/a
4	chr14:105444910-105444960	AoSMC	blood vessel:	n/a
5	chr14:105445065-105445115	SAEC	small airway:	n/a
6	chr14:105444384-105444434	HEEpiC	esophagus:	n/a
7	chr14:105447744-105447794	MCF10A-Er-Src	breast:	n/a
8	chr14:105445253-105445303	HCF	heart:	n/a
9	chr14:105444384-105444434	NH-A	brain:	n/a
10	chr14:105446698-105446748	LNCaP	prostate:	n/a
11	chr14:105444897-105444947	NT2-D1	testis:	n/a
12	chr14:105444575-105444625	HRCEpiC	kidney:	n/a
13	chr14:105447744-105447794	GM12891	blood:	n/a
14	chr14:105444910-105444960	NHBE	bronchial:	n/a
15	chr14:105445253-105445303	CMK	blood:	n/a
16	chr14:105444724-105444774	A549	lung:	n/a
17	chr14:105444897-105444947	RPTEC	kidney:	n/a
18	chr14:105445253-105445303	HRE	kidney:	n/a
19	chr14:105446698-105446748	HAEpiC	amniotic membrane:	n/a
20	chr14:105446698-105446748	HCF	heart:	n/a
21	chr14:105444904-105444954	PrEC	prostate:	n/a
22	chr14:105446698-105446748	HEK293	kidney:	embryo
23	chr14:105447744-105447794	K562	blood:	n/a
24	chr14:105444384-105444434	PANC-1	pancreas:	n/a
25	chr14:105445224-105445274	NHDF-neo	bronchial:	n/a
26	chr14:105445065-105445115	IMR90	lung:	fetal
27	chr14:105447744-105447794	HEK293	kidney:	embryo
28	chr14:105444910-105444960	NT2-D1	testis:	n/a
29	chr14:105447744-105447794	T-47D	breast:	n/a
30	chr14:105444897-105444947	HRCEpiC	kidney:	n/a
31	chr14:105444384-105444434	IMR90	lung:	fetal
32	chr14:105445253-105445303	NHDF-neo	bronchial:	n/a
33	chr14:105445224-105445274	GM12891	blood:	n/a
34	chr14:105444575-105444625	NT2-D1	testis:	n/a
35	chr14:105444384-105444434	SK-N-SH	brain:	n/a
36	chr14:105444874-105444924	HPAEpiC	pulmonary alveolar:	n/a
37	chr14:105444897-105444947	MCF-7	breast:	n/a
38	chr14:105444724-105444774	HL-60	blood:	n/a
39	chr14:105445253-105445303	K562	blood:	n/a
40	chr14:105444910-105444960	GM06990	blood:	n/a
41	chr14:105447744-105447794	GM12878	blood:	n/a
42	chr14:105446698-105446748	T-47D	breast:	n/a
43	chr14:105444874-105444924	GM19239	blood:	n/a
44	chr14:105445224-105445274	U87	brain:	n/a
45	chr14:105444897-105444947	K562	blood:	n/a
46	chr14:105444910-105444960	Hepatocyte	liver:	n/a
47	chr14:105444724-105444774	PrEC	prostate:	n/a
48	chr14:105445224-105445274	AG09309	skin:	n/a
49	chr14:105444904-105444954	HRE	kidney:	n/a
50	chr14:105445224-105445274	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr14:105265965..105267568-chr14:105442748..105445496,2	MCF-7	breast:
2	chr14:105442218..105444582-chr14:105521648..105524128,2	MCF-7	breast:
3	chr14:105446494..105448202-chr14:105449526..105451372,2	K562	blood:
4	chr14:105444640..105445585-chr5:149736965..149737755,2	Hela-S3	cervix:
5	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:
6	chr14:105261681..105264088-chr14:105440432..105444268,3	MCF-7	breast:
7	chr14:105447918..105451142-chr14:105504307..105507319,3	MCF-7	breast:
8	chr14:105447969..105449766-chr14:105452246..105455058,2	K562	blood:
9	chr14:105441966..105444390-chr14:105493852..105497490,3	MCF-7	breast:
10	chr14:105441389..105444198-chr14:105485839..105488707,2	K562	blood:
11	chr14:105444730..105447554-chr14:105478549..105481250,3	MCF-7	breast:
12	chr14:105442175..105444429-chr14:105444520..105447131,2	K562	blood:
13	chr14:105443928..105445902-chr14:105765680..105767557,2	MCF-7	breast:
14	chr14:105442698..105444680-chr14:105485412..105488707,3	K562	blood:
15	chr14:105445221..105446848-chr14:105764774..105767767,2	K562	blood:
16	chr14:105445649..105448428-chr14:105631488..105633523,2	MCF-7	breast:
17	chr14:105446908..105449625-chr14:105498780..105501070,3	MCF-7	breast:
18	chr14:105443757..105444660-chr14:105510431..105511022,2	MCF-7	breast:
19	chr14:105446577..105448410-chr14:105484620..105488615,3	MCF-7	breast:
20	chr14:105444542..105445048-chr17:33307717..33308353,2	Hela-S3	cervix:
21	chr14:105441584..105444154-chr14:105510721..105515062,5	K562	blood:
22	chr14:105448113..105449625-chr14:105469854..105471847,2	MCF-7	breast:
23	chr14:105440890..105445623-chr14:105485614..105489562,6	MCF-7	breast:
24	chr14:105444254..105445137-chr5:95998330..95998953,2	Hela-S3	cervix:
25	chr14:105445145..105447583-chr14:105504457..105506627,3	MCF-7	breast:
26	chr14:105447672..105451166-chr14:105499426..105503853,4	MCF-7	breast:
27	chr14:105397847..105399946-chr14:105442912..105445708,2	MCF-7	breast:
28	chr14:105443512..105446839-chr14:105449245..105453481,5	K562	blood:
29	chr14:105442748..105444564-chr14:105532745..105535377,2	MCF-7	breast:
30	chr14:105445779..105447281-chr14:105498227..105500995,2	MCF-7	breast:
31	chr14:105444693..105446444-chr14:105485592..105488194,3	K562	blood:
32	chr14:105329992..105332567-chr14:105443160..105445644,3	MCF-7	breast:
33	chr14:105447414..105449078-chr14:105542830..105544424,2	MCF-7	breast:
34	chr14:105444894..105446599-chr14:105520468..105523261,2	MCF-7	breast:
35	chr14:105389558..105391968-chr14:105443207..105445217,2	MCF-7	breast:
36	chr14:105441981..105444790-chr14:105863308..105866164,2	MCF-7	breast:
37	chr14:105218537..105220486-chr14:105444127..105446003,2	MCF-7	breast:
38	chr14:105446192..105446960-chr14:105511841..105512647,2	K562	blood:

Variant related genes	Relation type
C14orf79	TF binding region
AHNAK2	TF binding region
C14orf79	CpG island
AHNAK2	CpG island
ENSG00000166428	chromatin interactions
ENSG00000226174	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000183484	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000070814	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000132141	chromatin interactions
ENSG00000179364	chromatin interactions
ENSG00000153113	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000099814	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	rs190334138	chr14:105445614-105445615	Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs183193562	chr14:105445731-105445732	Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs188524407	chr14:105445746-105445747	Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs191811526	chr14:105445790-105445791	Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs370393997	chr14:105445809-105445810	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs577852376	chr14:105445893-105445894	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs373533562	chr14:105445914-105445915	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs116114723	chr14:105445921-105445922	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs143136188	chr14:105445944-105445945	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs558977041	chr14:105445946-105445947	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs529301563	chr14:105445947-105445948	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 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:428 , 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	chr14:105438000-105446800	Enhancers	Lung	lung
3	chr14:105439600-105445400	Enhancers	Spleen	Spleen
4	chr14:105441800-105444400	Bivalent Enhancer	Placenta	Placenta
5	chr14:105441800-105446800	Enhancers	Fetal Heart	heart
6	chr14:105442800-105444400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:105443000-105444200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:105443000-105444400	Flanking Active TSS	HMEC	breast
9	chr14:105443000-105445600	Enhancers	Fetal Brain Male	brain
10	chr14:105443200-105444200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:105443200-105444200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:105443400-105444200	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr14:105443400-105444200	Enhancers	Fetal Lung	lung
14	chr14:105443400-105444600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
15	chr14:105443400-105444600	Flanking Active TSS	Esophagus	oesophagus
16	chr14:105443400-105444600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr14:105443600-105444200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
18	chr14:105443600-105444400	Bivalent Enhancer	Primary B cells from cord blood	blood
19	chr14:105443600-105444400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr14:105443600-105444400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:105443600-105444400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr14:105443600-105444400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:105443600-105444400	Flanking Active TSS	Fetal Brain Female	brain
24	chr14:105443600-105444400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr14:105443600-105444400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr14:105443600-105444400	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
27	chr14:105443600-105444400	Flanking Active TSS	HSMM	muscle
28	chr14:105443600-105444600	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr14:105443600-105445200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:105443800-105444200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:105443800-105444200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr14:105443800-105444200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:105443800-105444200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:105443800-105444200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:105443800-105444200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
36	chr14:105443800-105444200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:105443800-105444200	Enhancers	Left Ventricle	heart
38	chr14:105443800-105444400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:105443800-105444400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr14:105443800-105444400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr14:105443800-105444400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
42	chr14:105443800-105444400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:105443800-105444400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:105443800-105444400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:105443800-105444400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:105443800-105444400	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr14:105443800-105444400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr14:105443800-105444400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr14:105443800-105444400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr14:105443800-105444400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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