Variant report

Variant	esv1794331
Chromosome Location	chr14:103988059-104004311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1361)
CpG islands
(count:2199)
Chromatin interactive
region (count:44)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1361 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:103995348-103995685	K562	blood:	n/a	n/a
2	ATF2	chr14:103988336-103988583	H1-hESC	embryonic stem cell:	n/a	chr14:103988542-103988553
3	ATF2	chr14:103993464-103994168	GM12878	blood:	n/a	n/a
4	ATF2	chr14:103988379-103988859	H1-hESC	embryonic stem cell:	n/a	chr14:103988542-103988553
5	ATF3	chr14:103995341-103995740	GM12878	blood:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
6	ATF3	chr14:103987909-103988173	K562	blood:	n/a	chr14:103988031-103988040 chr14:103988063-103988083 chr14:103987981-103987990
7	ATF3	chr14:103995222-103995707	H1-hESC	embryonic stem cell:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
8	ATF3	chr14:103995304-103995632	K562	blood:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
9	ATF3	chr14:103995484-103995647	GM12878	blood:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
10	ATF3	chr14:103995364-103995679	HepG2	liver:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
11	ATF3	chr14:103995473-103995730	H1-hESC	embryonic stem cell:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
12	BACH1	chr14:103989687-103989869	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr14:103993662-103994102	GM12878	blood:	n/a	n/a
14	BCL11A	chr14:103993701-103994105	GM12878	blood:	n/a	chr14:103994023-103994031 chr14:103993910-103993919
15	BCL11A	chr14:103993692-103993969	GM12878	blood:	n/a	chr14:103993910-103993919
16	BCL3	chr14:104003399-104004220	A549	lung:	n/a	n/a
17	BCL3	chr14:104003973-104004329	A549	lung:	n/a	n/a
18	BCLAF1	chr14:103995083-103995461	GM12878	blood:	n/a	n/a
19	BCLAF1	chr14:103993689-103994140	GM12878	blood:	n/a	chr14:103994023-103994031 chr14:103993910-103993919
20	BHLHE40	chr14:103995209-103996036	HepG2	liver:	n/a	chr14:103995384-103995397 chr14:103995543-103995559
21	BHLHE40	chr14:103987177-103988209	K562	blood:	n/a	chr14:103988055-103988071 chr14:103987797-103987813
22	BHLHE40	chr14:103995329-103995755	A549	lung:	n/a	chr14:103995384-103995397 chr14:103995543-103995559
23	BHLHE40	chr14:103988110-103988137	GM12878	blood:	n/a	n/a
24	BHLHE40	chr14:103992753-103993129	HepG2	liver:	n/a	n/a
25	BHLHE40	chr14:103995234-103995864	K562	blood:	n/a	chr14:103995384-103995397 chr14:103995543-103995559
26	BHLHE40	chr14:104003141-104003167	GM12878	blood:	n/a	n/a
27	BHLHE40	chr14:103995182-103995997	GM12878	blood:	n/a	chr14:103995384-103995397 chr14:103995543-103995559
28	BHLHE40	chr14:103993765-103994050	GM12878	blood:	n/a	n/a
29	BHLHE40	chr14:103992720-103993002	HepG2	liver:	n/a	n/a
30	BRCA1	chr14:103995332-103995616	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr14:103988499-103988707	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr14:103996721-103997075	K562	blood:	n/a	n/a
33	CCNT2	chr14:103986744-103989391	K562	blood:	n/a	chr14:103988517-103988526 chr14:103987325-103987334 chr14:103987516-103987525 chr14:103988030-103988050
34	CCNT2	chr14:103995207-103995779	K562	blood:	n/a	chr14:103995475-103995484
35	CEBPB	chr14:103993666-103994100	GM12878	blood:	n/a	n/a
36	CEBPD	chr14:103988979-103989314	HepG2	liver:	n/a	n/a
37	CHD1	chr14:103988003-103988258	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr14:103988632-103989119	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr14:103995255-103995777	GM12878	blood:	n/a	chr14:103995474-103995484
40	CHD1	chr14:103988449-103988480	GM12878	blood:	n/a	n/a
41	CHD2	chr14:103995233-103995738	Hela-S3	cervix:	n/a	chr14:103995474-103995484
42	CHD2	chr14:103989115-103989238	K562	blood:	n/a	n/a
43	CHD2	chr14:103989185-103989202	HepG2	liver:	n/a	n/a
44	CHD2	chr14:103988408-103988749	K562	blood:	n/a	n/a
45	CHD2	chr14:103995282-103995609	K562	blood:	n/a	chr14:103995474-103995484
46	CHD2	chr14:103989124-103989465	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr14:103994507-103994561	K562	blood:	n/a	n/a
48	CHD2	chr14:103993745-103993946	GM12878	blood:	n/a	n/a
49	CHD2	chr14:103995190-103995799	GM12878	blood:	n/a	chr14:103995474-103995484
50	CHD2	chr14:103994507-103994707	Hela-S3	cervix:	n/a	n/a

(count:2199 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104000505-104000555	NH-A	brain:	n/a
2	chr14:104000447-104000497	GM12878	blood:	n/a
3	chr14:103990661-103990711	GM12891	blood:	n/a
4	chr14:104000505-104000555	NH-A	brain:	n/a
5	chr14:104000447-104000497	GM12878	blood:	n/a
6	chr14:103990661-103990711	GM12891	blood:	n/a
7	chr14:103988476-103988526	MCF-7	breast:	n/a
8	chr14:104001089-104001139	HRE	kidney:	n/a
9	chr14:103996534-103996584	AoSMC	blood vessel:	n/a
10	chr14:103996768-103996818	HCM	heart:	n/a
11	chr14:103998970-103999020	SK-N-SH_RA	brain:	n/a
12	chr14:103989629-103989679	GM12891	blood:	n/a
13	chr14:104000447-104000497	SK-N-MC	brain:	n/a
14	chr14:104000505-104000555	A549	lung:	n/a
15	chr14:103990661-103990711	AG09319	gingival:	n/a
16	chr14:103989789-103989839	HAEpiC	amniotic membrane:	n/a
17	chr14:103995231-103995281	HRE	kidney:	n/a
18	chr14:104000460-104000510	HUVEC	blood vessel:	n/a
19	chr14:103999065-103999115	U87	brain:	n/a
20	chr14:103996534-103996584	H1-hESC	embryonic stem cell:	embryo
21	chr14:103988476-103988526	HIPEpiC	eye:	n/a
22	chr14:103989789-103989839	RPTEC	kidney:	n/a
23	chr14:103999050-103999100	GM12891	blood:	n/a
24	chr14:103995759-103995809	PFSK-1	brain:	n/a
25	chr14:103992856-103992906	AG09319	gingival:	n/a
26	chr14:103995630-103995680	GM06990	blood:	n/a
27	chr14:104001089-104001139	HEK293	kidney:	embryo
28	chr14:104001089-104001139	PrEC	prostate:	n/a
29	chr14:104000505-104000555	HL-60	blood:	n/a
30	chr14:103988428-103988478	HAEpiC	amniotic membrane:	n/a
31	chr14:103996768-103996818	HUVEC	blood vessel:	n/a
32	chr14:103992856-103992906	SK-N-MC	brain:	n/a
33	chr14:104000447-104000497	K562	blood:	n/a
34	chr14:103995759-103995809	U87	brain:	n/a
35	chr14:103996534-103996584	NB4	blood:	n/a
36	chr14:104001005-104001055	PrEC	prostate:	n/a
37	chr14:103995759-103995809	SKMC	muscle:	n/a
38	chr14:103995759-103995809	Jurkat	blood:	n/a
39	chr14:103994927-103994977	SK-N-MC	brain:	n/a
40	chr14:103988428-103988478	Hela-S3	cervix:	n/a
41	chr14:103999050-103999100	SK-N-SH_RA	brain:	n/a
42	chr14:103999065-103999115	HRCEpiC	kidney:	n/a
43	chr14:104001089-104001139	HCF	heart:	n/a
44	chr14:104001005-104001055	NB4	blood:	n/a
45	chr14:103988776-103988826	Caco-2	colon:	n/a
46	chr14:103998970-103999020	ProgFib	skin:	n/a
47	chr14:103995231-103995281	HRPEpiC	eye:	n/a
48	chr14:104000460-104000510	NHDF-neo	bronchial:	n/a
49	chr14:103999065-103999115	ovcar-3	ovarian:	n/a
50	chr14:103995663-103995713	NHDF-neo	bronchial:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104003474..104006501-chr14:104024765..104028078,3	MCF-7	breast:
2	chr10:102820580..102821244-chr14:103988608..103989371,2	Hela-S3	cervix:
3	chr14:60558814..60559777-chr14:103994985..103995928,2	Hela-S3	cervix:
4	chr14:103793692..103795249-chr14:104002201..104004870,2	K562	blood:
5	chr14:103995545..103997122-chr14:104028296..104030375,2	K562	blood:
6	chr14:104002894..104005189-chr14:104020540..104022849,2	K562	blood:
7	chr14:103989806..103992763-chr14:104031843..104033929,2	K562	blood:
8	chr14:103988730..103989594-chr5:40834707..40835350,2	Hela-S3	cervix:
9	chr14:103995011..103995967-chr9:138986719..138987278,2	Hela-S3	cervix:
10	chr14:103985364..103989946-chr14:104026445..104030227,8	MCF-7	breast:
11	chr14:103587793..103589963-chr14:103986359..103988722,2	K562	blood:
12	chr14:103993654..103996154-chr14:104180669..104183057,2	K562	blood:
13	chr1:25256344..25257214-chr14:103988746..103989611,2	HCT-116	colon:
14	chr14:54907336..54908126-chr14:103988325..103989307,2	Hela-S3	cervix:
15	chr14:103988720..103989231-chr16:18812317..18812925,2	Hela-S3	cervix:
16	chr14:103966852..103969165-chr14:104004136..104006723,2	MCF-7	breast:
17	chr14:103799200..103803060-chr14:103987408..103990865,9	K562	blood:
18	chr14:103988216..103989188-chr3:156543435..156544222,2	HCT-116	colon:
19	chr14:103851236..103854697-chr14:103993929..103996210,3	MCF-7	breast:
20	chr14:103948825..103951654-chr14:103995758..103998626,2	K562	blood:
21	chr14:103988618..103989155-chr2:27632066..27633031,2	Hela-S3	cervix:
22	chr14:103522157..103524674-chr14:103987667..103989193,2	K562	blood:
23	chr14:103992666..103995489-chr14:104177229..104179572,2	MCF-7	breast:
24	chr14:103991343..103994487-chr14:104021014..104023570,3	MCF-7	breast:
25	chr14:103798500..103802639-chr14:103987592..103992121,9	K562	blood:
26	chr14:103986778..103989691-chr14:104095238..104098302,4	K562	blood:
27	chr14:103988878..103989543-chr7:39662895..39663568,2	Hela-S3	cervix:
28	chr14:103989521..103992471-chr14:104020578..104022117,2	K562	blood:
29	chr14:103963760..103966397-chr14:103985638..103989760,5	K562	blood:
30	chr14:103965151..103968057-chr14:103990191..103992747,2	MCF-7	breast:
31	chr14:103992298..103994293-chr14:104026567..104028145,2	K562	blood:
32	chr14:103989795..103991937-chr14:104151715..104153875,2	K562	blood:
33	chr14:103893677..103895539-chr14:103987804..103990047,2	K562	blood:
34	chr14:103987454..103990068-chr14:104178702..104181671,2	K562	blood:
35	chr14:103994810..103997176-chr14:104176629..104178794,2	MCF-7	breast:
36	chr14:104002192..104004863-chr14:104043017..104044904,2	K562	blood:
37	chr14:103858408..103860033-chr14:103999938..104001765,2	K562	blood:
38	chr14:103991177..103993874-chr14:104481352..104483725,2	MCF-7	breast:
39	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
40	chr14:103988769..103989622-chr3:43327887..43328473,2	HCT-116	colon:
41	chr14:103994796..103995496-chr19:18392061..18392693,2	HCT-116	colon:
42	chr14:103983696..103988397-chr14:104026059..104029809,6	K562	blood:
43	chr14:103951483..103953028-chr14:103997135..103999306,2	MCF-7	breast:
44	chr14:103986881..103989564-chr14:104195653..104197565,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRMT61A-1	chr14:103993557-103994281	NONHSAT040175
2	lnc-CKB-1	chr14:103991347-103995409	ENSG00000260285.1
3	lnc-TRMT61A-1	chr14:103992321-103992371	NONHSAT040175

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TRMT61A	hsa-miR-342-3p	chr14:104002332-104002354

Variant related genes	Relation type
ENSG00000260285	TF binding region
TRMT61A	TF binding region
CKB	TF binding region
ENSG00000260285	CpG island
TRMT61A	CpG island
CKB	CpG island
ENSG00000197980	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000148411	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000273162	chromatin interactions
ENSG00000126773	chromatin interactions
ENSG00000075413	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000259717	chromatin interactions
ENSG00000269963	chromatin interactions
ENSG00000006451	chromatin interactions
ENSG00000201184	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000256053	chromatin interactions
ENSG00000100664	chromatin interactions
ENSG00000198752	chromatin interactions
ENSG00000185215	chromatin interactions
ENSG00000020633	chromatin interactions
ENSG00000259775	chromatin interactions
ENSG00000126215	chromatin interactions
ENSG00000115241	chromatin interactions
ENSG00000100528	chromatin interactions
ENSG00000163788	chromatin interactions
ENSG00000224997	chromatin interactions
ENSG00000126214	chromatin interactions
ENSG00000166170	chromatin interactions
ENSG00000100711	chromatin interactions

Extended variants
information (count: 719 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375645493	chr14:103988065-103988066	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs530844247	chr14:103988071-103988072	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs550919532	chr14:103988073-103988074	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs567866697	chr14:103988094-103988095	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs538583363	chr14:103988121-103988122	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs536906018	chr14:103988151-103988152	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs1136165	chr14:103988180-103988181	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs11545349	chr14:103988223-103988224	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs567115562	chr14:103988255-103988256	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs539211313	chr14:103988283-103988284	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs10129401	chr14:103988291-103988292	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575260999	chr14:103988295-103988296	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs201438967	chr14:103988413-103988414	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs554505475	chr14:103988444-103988445	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs150838024	chr14:103988461-103988462	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs11545348	chr14:103988508-103988509	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs11545345	chr14:103988510-103988511	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs376810650	chr14:103988536-103988537	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs369865621	chr14:103988546-103988547	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs371834880	chr14:103988548-103988549	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs574657058	chr14:103988554-103988555	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs534772671	chr14:103988593-103988594	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs540178142	chr14:103988594-103988595	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs560014977	chr14:103988600-103988601	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs543521818	chr14:103988601-103988602	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs2985906	chr14:103988612-103988613	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs376368950	chr14:103988617-103988618	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs545580102	chr14:103988628-103988629	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs2984136	chr14:103988629-103988630	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs2984135	chr14:103988630-103988631	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs11545344	chr14:103988655-103988656	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs2985905	chr14:103988707-103988708	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs2984134	chr14:103988708-103988709	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs565251206	chr14:103988719-103988720	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs11545350	chr14:103988725-103988726	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs79794690	chr14:103988741-103988742	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs11545352	chr14:103988755-103988756	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs374940153	chr14:103988765-103988766	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs11545347	chr14:103988767-103988768	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs11545351	chr14:103988786-103988787	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
41	rs139265353	chr14:103988789-103988790	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
42	rs550707844	chr14:103988794-103988795	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
43	rs561373336	chr14:103988803-103988804	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
44	rs530112612	chr14:103988804-103988805	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs200381467	chr14:103988806-103988807	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs142728438	chr14:103988810-103988811	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs146055152	chr14:103988814-103988815	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs369862782	chr14:103988839-103988840	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs373122455	chr14:103988845-103988846	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs567152937	chr14:103988948-103988949	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	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
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	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
Cancer	17160897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	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

Chromatin state (count:1494 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103980000-103988400	Weak transcription	Fetal Kidney	kidney
2	chr14:103986200-103988600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:103986200-103988800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:103986400-103988400	Active TSS	Primary T cells from cord blood	blood
5	chr14:103986600-103988400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
6	chr14:103986800-103988200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:103986800-103988400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr14:103986800-103989000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:103986800-103989400	Active TSS	HepG2	liver
10	chr14:103986800-103989600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:103987000-103988200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr14:103987000-103988400	Active TSS	Small Intestine	intestine
13	chr14:103987000-103988600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:103987000-103988600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:103987000-103988600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr14:103987000-103988800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:103987000-103988800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr14:103987000-103989000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:103987000-103989000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:103987000-103989200	Active TSS	Ovary	ovary
21	chr14:103987000-103989200	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr14:103987000-103989400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:103987000-103989400	Active TSS	Rectal Smooth Muscle	rectum
24	chr14:103987000-103989400	Active TSS	Right Atrium	heart
25	chr14:103987000-103989400	Active TSS	HSMM	muscle
26	chr14:103987000-103989600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:103987000-103989600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr14:103987000-103989600	Active TSS	Colon Smooth Muscle	Colon
29	chr14:103987000-103989600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr14:103987000-103989600	Active TSS	Hela-S3	cervix
31	chr14:103987000-103989800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:103987000-103989800	Active TSS	K562	blood
33	chr14:103987000-103990000	Active TSS	Brain Anterior Caudate	brain
34	chr14:103987200-103988200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr14:103987200-103988400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:103987200-103988400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:103987200-103988400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:103987200-103988400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:103987200-103988400	Active TSS	Lung	lung
40	chr14:103987200-103988400	Bivalent/Poised TSS	Psoas Muscle	Psoas
41	chr14:103987200-103988400	Bivalent/Poised TSS	NHEK	skin
42	chr14:103987200-103988800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
43	chr14:103987200-103988800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr14:103987200-103989200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr14:103987200-103989200	Active TSS	Aorta	Aorta
46	chr14:103987200-103989200	Active TSS	Pancreas	Pancrea
47	chr14:103987200-103989200	Active TSS	Stomach Smooth Muscle	stomach
48	chr14:103987200-103989400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr14:103987200-103989400	Active TSS	Brain Cingulate Gyrus	brain
50	chr14:103987200-103989400	Active TSS	Gastric	stomach

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