Variant report

Variant	esv3437595
Chromosome Location	chr14:105486432-105489280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:909)
CpG islands
(count:733)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:909 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105487292-105487482	HepG2	liver:	n/a	n/a
2	ATF2	chr14:105487644-105488036	GM12878	blood:	n/a	n/a
3	ATF3	chr14:105487653-105487840	GM12878	blood:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
4	ATF3	chr14:105487655-105487875	H1-hESC	embryonic stem cell:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
5	ATF3	chr14:105487578-105487932	HepG2	liver:	n/a	chr14:105487610-105487619 chr14:105487704-105487713 chr14:105487687-105487696
6	ATF3	chr14:105487590-105487993	GM12878	blood:	n/a	chr14:105487610-105487619 chr14:105487704-105487713 chr14:105487687-105487696
7	ATF3	chr14:105487600-105487891	K562	blood:	n/a	chr14:105487610-105487619 chr14:105487704-105487713 chr14:105487687-105487696
8	ATF3	chr14:105487634-105487983	HepG2	liver:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
9	ATF3	chr14:105487624-105487885	H1-hESC	embryonic stem cell:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
10	BACH1	chr14:105486695-105488358	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr14:105487663-105488547	A549	lung:	n/a	n/a
12	BCL3	chr14:105487816-105488442	A549	lung:	n/a	n/a
13	BCL3	chr14:105487111-105487623	GM12878	blood:	n/a	chr14:105487134-105487147 chr14:105487176-105487189 chr14:105487267-105487276 chr14:105487211-105487220 chr14:105487182-105487195 chr14:105487521-105487534 chr14:105487181-105487194
14	BCLAF1	chr14:105486512-105487013	GM12878	blood:	n/a	chr14:105486806-105486815 chr14:105486988-105487001 chr14:105486955-105486964 chr14:105486907-105486920
15	BCLAF1	chr14:105487656-105488131	GM12878	blood:	n/a	n/a
16	BCLAF1	chr14:105487706-105488440	GM12878	blood:	n/a	n/a
17	BHLHE40	chr14:105487234-105487509	K562	blood:	n/a	n/a
18	BHLHE40	chr14:105486571-105488413	GM12878	blood:	n/a	chr14:105488088-105488104 chr14:105487126-105487142 chr14:105487118-105487134
19	BHLHE40	chr14:105487245-105488012	HepG2	liver:	n/a	n/a
20	BHLHE40	chr14:105487812-105488365	K562	blood:	n/a	chr14:105488088-105488104
21	BRCA1	chr14:105487418-105487502	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr14:105488076-105488203	HepG2	liver:	n/a	n/a
23	BRCA1	chr14:105487387-105488446	Hela-S3	cervix:	n/a	n/a
24	CCNT2	chr14:105486853-105487928	K562	blood:	n/a	chr14:105487525-105487534
25	CEBPB	chr14:105487709-105488494	GM12878	blood:	n/a	n/a
26	CEBPB	chr14:105487111-105488368	Hela-S3	cervix:	n/a	n/a
27	CEBPD	chr14:105487558-105488256	HepG2	liver:	n/a	n/a
28	CEBPD	chr14:105487196-105487494	HepG2	liver:	n/a	n/a
29	CHD1	chr14:105487251-105487290	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr14:105486796-105486820	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr14:105487728-105488379	GM12878	blood:	n/a	n/a
32	CHD1	chr14:105486375-105487026	GM12878	blood:	n/a	n/a
33	CHD2	chr14:105487279-105488393	H1-hESC	embryonic stem cell:	n/a	chr14:105487685-105487695 chr14:105487433-105487443 chr14:105487428-105487438
34	CHD2	chr14:105488064-105488336	HepG2	liver:	n/a	n/a
35	CHD2	chr14:105487270-105488366	Hela-S3	cervix:	n/a	chr14:105487685-105487695 chr14:105487433-105487443 chr14:105487428-105487438
36	CHD2	chr14:105487408-105487597	HepG2	liver:	n/a	chr14:105487433-105487443 chr14:105487428-105487438
37	CHD2	chr14:105486757-105486816	K562	blood:	n/a	n/a
38	CHD2	chr14:105487254-105487625	K562	blood:	n/a	chr14:105487433-105487443 chr14:105487428-105487438
39	CHD2	chr14:105487829-105488299	K562	blood:	n/a	n/a
40	CHD2	chr14:105487113-105488378	GM12878	blood:	n/a	chr14:105487685-105487695 chr14:105487433-105487443 chr14:105487428-105487438
41	CREB1	chr14:105487955-105488437	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr14:105487228-105487771	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr14:105487242-105487608	A549	lung:	n/a	n/a
44	CREB1	chr14:105487183-105487795	HepG2	liver:	n/a	n/a
45	CREB1	chr14:105487198-105487985	A549	lung:	n/a	n/a
46	CREB1	chr14:105487211-105488054	GM12878	blood:	n/a	n/a
47	CREB1	chr14:105486777-105488507	HepG2	liver:	n/a	n/a
48	CREB1	chr14:105487234-105487834	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr14:105487385-105487914	ECC-1	luminal epithelium:	n/a	n/a
50	CREB1	chr14:105487999-105488407	A549	lung:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105488366-105488416	MCF-7	breast:	n/a
2	chr14:105488366-105488416	MCF-7	breast:	n/a
3	chr14:105488115-105488165	GM12892	blood:	n/a
4	chr14:105487914-105487964	IMR90	lung:	fetal
5	chr14:105487648-105487698	AG04450	lung:	fetal
6	chr14:105488366-105488416	PFSK-1	brain:	n/a
7	chr14:105487572-105487622	Hela-S3	cervix:	n/a
8	chr14:105487825-105487875	RPTEC	kidney:	n/a
9	chr14:105487615-105487665	NHBE	bronchial:	n/a
10	chr14:105486781-105486831	HUVEC	blood vessel:	n/a
11	chr14:105487914-105487964	AG04449	skin:	fetal
12	chr14:105487825-105487875	HRCEpiC	kidney:	n/a
13	chr14:105487572-105487622	HCT-116	colon:	n/a
14	chr14:105486648-105486698	AG04449	skin:	fetal
15	chr14:105487248-105487298	K562	blood:	n/a
16	chr14:105488115-105488165	MCF-7	breast:	n/a
17	chr14:105488115-105488165	NHBE	bronchial:	n/a
18	chr14:105487215-105487265	HPAEpiC	pulmonary alveolar:	n/a
19	chr14:105488366-105488416	Hela-S3	cervix:	n/a
20	chr14:105487248-105487298	PANC-1	pancreas:	n/a
21	chr14:105487229-105487279	HRCEpiC	kidney:	n/a
22	chr14:105486781-105486831	U87	brain:	n/a
23	chr14:105487229-105487279	CMK	blood:	n/a
24	chr14:105488115-105488165	HCF	heart:	n/a
25	chr14:105487615-105487665	HRE	kidney:	n/a
26	chr14:105486648-105486698	U87	brain:	n/a
27	chr14:105488366-105488416	Caco-2	colon:	n/a
28	chr14:105487572-105487622	LNCaP	prostate:	n/a
29	chr14:105487229-105487279	HEK293	kidney:	embryo
30	chr14:105487248-105487298	AG09319	gingival:	n/a
31	chr14:105487215-105487265	T-47D	breast:	n/a
32	chr14:105487648-105487698	AG09319	gingival:	n/a
33	chr14:105487215-105487265	HEEpiC	esophagus:	n/a
34	chr14:105486648-105486698	HEK293	kidney:	embryo
35	chr14:105486648-105486698	PrEC	prostate:	n/a
36	chr14:105488366-105488416	AG09309	skin:	n/a
37	chr14:105487572-105487622	HIPEpiC	eye:	n/a
38	chr14:105486648-105486698	RPTEC	kidney:	n/a
39	chr14:105487572-105487622	A549	lung:	n/a
40	chr14:105486781-105486831	MCF-7	breast:	n/a
41	chr14:105487914-105487964	GM19239	blood:	n/a
42	chr14:105487572-105487622	ECC-1	luminal epithelium:	n/a
43	chr14:105487825-105487875	ovcar-3	ovarian:	n/a
44	chr14:105488115-105488165	MCF10A-Er-Src	breast:	n/a
45	chr14:105488115-105488165	Caco-2	colon:	n/a
46	chr14:105487648-105487698	Hepatocyte	liver:	n/a
47	chr14:105486648-105486698	HepG2	liver:	n/a
48	chr14:105487248-105487298	BJ	skin:	n/a
49	chr14:105486781-105486831	ovcar-3	ovarian:	n/a
50	chr14:105487248-105487298	HNPCEpiC	eye:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
2	chr14:105444693..105446444-chr14:105485592..105488194,3	K562	blood:
3	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:
4	chr1:32478407..32481120-chr14:105486396..105489029,2	MCF-7	breast:
5	chr14:105485865..105488702-chr14:105521834..105523359,2	K562	blood:
6	chr14:105487034..105487793-chr5:40834950..40835755,2	Hela-S3	cervix:
7	chr14:105487778..105490193-chr14:105767272..105770165,2	MCF-7	breast:
8	chr12:133287331..133288118-chr14:105487145..105487714,2	Hela-S3	cervix:
9	chr14:105346758..105349135-chr14:105488164..105490065,2	MCF-7	breast:
10	chr14:105329781..105332832-chr14:105486734..105489071,3	MCF-7	breast:
11	chr14:105488161..105488707-chr14:105511957..105512657,2	MCF-7	breast:
12	chr14:105486634..105487135-chr2:241499645..241500593,2	Hela-S3	cervix:
13	chr14:105468423..105470869-chr14:105484472..105486561,2	MCF-7	breast:
14	chr14:105448840..105458160-chr14:105477229..105492100,32	MCF-7	breast:
15	chr11:62609033..62609780-chr14:105486942..105487714,2	Hela-S3	cervix:
16	chr14:105486883..105487875-chr22:20003789..20004397,2	NB4	blood:
17	chr14:105487558..105490083-chr14:105516106..105518275,3	MCF-7	breast:
18	chr14:91719454..91721196-chr14:105485450..105487377,2	MCF-7	breast:
19	chr14:105440890..105445623-chr14:105485614..105489562,6	MCF-7	breast:
20	chr14:105486934..105489265-chr14:106372865..106374868,2	MCF-7	breast:
21	chr14:105487513..105488363-chr7:44836077..44836628,2	HCT-116	colon:
22	chr11:61099687..61101832-chr14:105486537..105488632,2	MCF-7	breast:
23	chr13:30994882..30996624-chr14:105486815..105488423,2	MCF-7	breast:
24	chr14:105487916..105489481-chr16:89626019..89628336,2	MCF-7	breast:
25	chr14:105486944..105489300-chr14:105953502..105956286,2	MCF-7	breast:
26	chr14:105486865..105487846-chr3:33481300..33482173,3	Hela-S3	cervix:
27	chr14:105452399..105454972-chr14:105485871..105488403,3	K562	blood:
28	chr14:105487927..105490765-chr17:57920099..57922115,2	MCF-7	breast:
29	chr14:105359659..105361508-chr14:105484328..105487117,2	MCF-7	breast:
30	chr14:105486767..105487298-chr2:101618521..101619073,2	Hela-S3	cervix:
31	chr14:105452399..105454814-chr14:105486903..105489011,2	K562	blood:
32	chr14:105433505..105435724-chr14:105485407..105487302,3	MCF-7	breast:
33	chr14:105488320..105490306-chr14:105542807..105544380,2	MCF-7	breast:
34	chr14:105487526..105488276-chr19:2476312..2477221,2	HCT-116	colon:
35	chr14:105486497..105489125-chr17:57923024..57925819,2	MCF-7	breast:
36	chr14:105266268..105268334-chr14:105486957..105488737,2	K562	blood:
37	chr14:105487751..105489658-chr14:105685991..105688181,2	MCF-7	breast:
38	chr14:105486868..105487849-chr5:32174032..32174786,2	Hela-S3	cervix:
39	chr14:105436785..105438892-chr14:105486187..105488298,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDCA4	TF binding region
CDCA4	CpG island
ENSG00000140104	chromatin interactions
ENSG00000167526	chromatin interactions
ENSG00000225039	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000071082	chromatin interactions
ENSG00000247077	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000188542	chromatin interactions
ENSG00000223947	chromatin interactions
ENSG00000213145	chromatin interactions
ENSG00000183484	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000119714	chromatin interactions
ENSG00000144504	chromatin interactions
ENSG00000149476	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000257341	chromatin interactions
ENSG00000121774	chromatin interactions
ENSG00000200084	chromatin interactions
ENSG00000113384	chromatin interactions
ENSG00000272086	chromatin interactions
ENSG00000099889	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000153560	chromatin interactions
ENSG00000211925	chromatin interactions
ENSG00000167986	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571441374	chr14:105486441-105486442	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs149462833	chr14:105486483-105486484	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs577443256	chr14:105486493-105486494	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs143001820	chr14:105486499-105486500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs538708506	chr14:105486509-105486510	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs10143367	chr14:105486513-105486514	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs540442112	chr14:105486542-105486543	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs111573891	chr14:105486544-105486545	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs35825037	chr14:105486566-105486567	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs532243636	chr14:105486574-105486575	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs113767999	chr14:105486575-105486576	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs562515216	chr14:105486660-105486661	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs8008615	chr14:105486729-105486730	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs551326309	chr14:105486735-105486736	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs567983421	chr14:105486741-105486742	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs10162501	chr14:105486749-105486750	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187903600	chr14:105486750-105486751	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs544565164	chr14:105486751-105486752	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs8008344	chr14:105486758-105486759	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs539171998	chr14:105486773-105486774	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs77066495	chr14:105486842-105486843	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs8008799	chr14:105486847-105486848	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537825702	chr14:105486868-105486869	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs554512953	chr14:105486870-105486871	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs183742968	chr14:105486924-105486925	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs8008979	chr14:105486931-105486932	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs8008984	chr14:105486934-105486935	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs576960628	chr14:105486972-105486973	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
29	rs528443380	chr14:105486983-105486984	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
30	rs376269884	chr14:105486985-105486986	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
31	rs545922769	chr14:105487054-105487055	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs562550537	chr14:105487059-105487060	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs148168676	chr14:105487086-105487087	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs548223876	chr14:105487142-105487143	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
35	rs561628086	chr14:105487145-105487146	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
36	rs186643223	chr14:105487183-105487184	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
37	rs546977791	chr14:105487239-105487240	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
38	rs143798462	chr14:105487257-105487258	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
39	rs567096588	chr14:105487278-105487279	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
40	rs532583192	chr14:105487392-105487393	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
41	rs112377425	chr14:105487416-105487417	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs552280062	chr14:105487445-105487446	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs149334717	chr14:105487447-105487448	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
44	rs569029287	chr14:105487462-105487463	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
45	rs532272746	chr14:105487590-105487591	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
46	rs537911902	chr14:105487640-105487641	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
47	rs554550027	chr14:105487650-105487651	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
48	rs568067288	chr14:105487706-105487707	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
49	rs191009996	chr14:105487734-105487735	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
50	rs553773019	chr14:105487774-105487775	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	23 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
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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105473800-105486600	Weak transcription	Aorta	Aorta
2	chr14:105484000-105487200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr14:105484200-105486800	Transcr. at gene 5' and 3'	NHEK	skin
4	chr14:105484400-105486800	Transcr. at gene 5' and 3'	A549	lung
5	chr14:105485200-105486600	Transcr. at gene 5' and 3'	K562	blood
6	chr14:105485400-105486600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:105485400-105486600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
8	chr14:105485400-105486600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:105485400-105486600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr14:105485400-105486600	Flanking Active TSS	Thymus	Thymus
11	chr14:105485400-105486600	Enhancers	Spleen	Spleen
12	chr14:105485400-105486600	Flanking Active TSS	Osteobl	bone
13	chr14:105485400-105486800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr14:105485400-105486800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr14:105485400-105486800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:105485400-105486800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr14:105485400-105486800	Flanking Active TSS	Fetal Brain Female	brain
18	chr14:105485400-105486800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr14:105485400-105486800	Flanking Active TSS	NH-A	brain
20	chr14:105485400-105487000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr14:105485400-105487000	Active TSS	Fetal Kidney	kidney
22	chr14:105485400-105487200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:105485600-105486600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:105485600-105486600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:105485600-105486600	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr14:105485600-105486600	Flanking Active TSS	Fetal Heart	heart
27	chr14:105485600-105486600	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr14:105485600-105486600	Enhancers	Stomach Mucosa	stomach
29	chr14:105485600-105486800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:105485600-105486800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:105485600-105486800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr14:105485600-105486800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:105485600-105486800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr14:105485600-105487200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:105485800-105486600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:105485800-105486600	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr14:105485800-105486600	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr14:105485800-105486800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:105485800-105486800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr14:105485800-105486800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr14:105485800-105486800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr14:105485800-105486800	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr14:105485800-105487000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr14:105485800-105488000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:105485800-105488000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:105485800-105488200	Active TSS	Colonic Mucosa	Colon
47	chr14:105485800-105488200	Active TSS	Esophagus	oesophagus
48	chr14:105485800-105488800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr14:105485800-105489000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:105486000-105486600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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