Variant report

Variant	esv3389476
Chromosome Location	chr14:104028349-104030447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:560)
CpG islands
(count:610)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:560 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:104029362-104029526	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:104028917-104029063	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:104028838-104029124	K562	blood:	n/a	n/a
4	ARID3A	chr14:104028209-104028400	HepG2	liver:	n/a	n/a
5	ATF2	chr14:104029132-104029490	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr14:104028809-104029117	K562	blood:	n/a	n/a
7	ATF3	chr14:104028995-104029570	HepG2	liver:	n/a	chr14:104029234-104029243
8	ATF3	chr14:104029134-104029394	GM12878	blood:	n/a	chr14:104029234-104029243
9	ATF3	chr14:104029141-104029428	K562	blood:	n/a	chr14:104029234-104029243
10	ATF3	chr14:104028780-104029532	GM12878	blood:	n/a	chr14:104029234-104029243
11	ATF3	chr14:104029171-104029564	H1-hESC	embryonic stem cell:	n/a	chr14:104029234-104029243
12	ATF3	chr14:104028878-104029472	HepG2	liver:	n/a	chr14:104029234-104029243
13	ATF3	chr14:104029078-104029482	H1-hESC	embryonic stem cell:	n/a	chr14:104029234-104029243
14	BACH1	chr14:104028884-104029072	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCLAF1	chr14:104028780-104029158	GM12878	blood:	n/a	chr14:104029027-104029040 chr14:104029026-104029039
16	BHLHE40	chr14:104028808-104029541	GM12878	blood:	n/a	chr14:104028838-104028854 chr14:104029112-104029128
17	BHLHE40	chr14:104028266-104028499	K562	blood:	n/a	n/a
18	BHLHE40	chr14:104028104-104028437	GM12878	blood:	n/a	n/a
19	BHLHE40	chr14:104028856-104029392	K562	blood:	n/a	chr14:104029112-104029128
20	BRCA1	chr14:104028915-104029405	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr14:104028819-104029477	GM12878	blood:	n/a	n/a
22	BRCA1	chr14:104028803-104029566	Hela-S3	cervix:	n/a	n/a
23	CCNT2	chr14:104028710-104029644	K562	blood:	n/a	chr14:104029035-104029044 chr14:104028788-104028797
24	CEBPB	chr14:104028612-104029732	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr14:104029155-104029351	HepG2	liver:	n/a	n/a
26	CEBPB	chr14:104029194-104029366	HepG2	liver:	n/a	n/a
27	CEBPD	chr14:104028932-104029310	HepG2	liver:	n/a	n/a
28	CHD1	chr14:104028758-104029003	GM12878	blood:	n/a	n/a
29	CHD2	chr14:104028783-104029383	HepG2	liver:	n/a	chr14:104029283-104029293
30	CHD2	chr14:104028492-104029688	Hela-S3	cervix:	n/a	chr14:104028711-104028721 chr14:104029283-104029293
31	CHD2	chr14:104028774-104029654	H1-hESC	embryonic stem cell:	n/a	chr14:104029283-104029293
32	CHD2	chr14:104028318-104028409	HepG2	liver:	n/a	n/a
33	CHD2	chr14:104028772-104029708	K562	blood:	n/a	chr14:104029283-104029293
34	CHD2	chr14:104028267-104029838	GM12878	blood:	n/a	chr14:104028711-104028721 chr14:104029283-104029293
35	CREB1	chr14:104028691-104029617	K562	blood:	n/a	n/a
36	CREB1	chr14:104028823-104029349	A549	lung:	n/a	n/a
37	CREB1	chr14:104028414-104029573	A549	lung:	n/a	n/a
38	CREB1	chr14:104028237-104029803	HepG2	liver:	n/a	n/a
39	CREB1	chr14:104028735-104029520	ECC-1	luminal epithelium:	n/a	n/a
40	CREB1	chr14:104028665-104029567	HepG2	liver:	n/a	n/a
41	CREB1	chr14:104028572-104029509	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr14:104028599-104029483	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr14:104028457-104029634	K562	blood:	n/a	n/a
44	CREB1	chr14:104028401-104029553	GM12878	blood:	n/a	n/a
45	CTCF	chr14:104029202-104029242	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr14:104029240-104029390	GM12869	blood:	n/a	n/a
47	CTCF	chr14:104029245-104029266	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr14:104028220-104028370	GM12872	blood:	n/a	n/a
49	CTCF	chr14:104029340-104029490	HVMF	connective:	n/a	n/a
50	CTCF	chr14:104030384-104030491	MCF-7	breast:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104029029-104029079	PANC-1	pancreas:	n/a
2	chr14:104029527-104029577	HUVEC	blood vessel:	n/a
3	chr14:104029029-104029079	AoSMC	blood vessel:	n/a
4	chr14:104028314-104028364	AG04449	skin:	fetal
5	chr14:104028616-104028666	HUVEC	blood vessel:	n/a
6	chr14:104029667-104029717	HUVEC	blood vessel:	n/a
7	chr14:104029527-104029577	NHDF-neo	bronchial:	n/a
8	chr14:104028616-104028666	SK-N-SH_RA	brain:	n/a
9	chr14:104029029-104029079	HRE	kidney:	n/a
10	chr14:104029012-104029062	GM19239	blood:	n/a
11	chr14:104029012-104029062	HRPEpiC	eye:	n/a
12	chr14:104029859-104029909	T-47D	breast:	n/a
13	chr14:104028524-104028574	SK-N-SH_RA	brain:	n/a
14	chr14:104028524-104028574	HRPEpiC	eye:	n/a
15	chr14:104029527-104029577	PFSK-1	brain:	n/a
16	chr14:104029520-104029570	SK-N-SH_RA	brain:	n/a
17	chr14:104029012-104029062	SK-N-SH_RA	brain:	n/a
18	chr14:104028314-104028364	Hepatocyte	liver:	n/a
19	chr14:104029029-104029079	MCF10A-Er-Src	breast:	n/a
20	chr14:104028889-104028939	PFSK-1	brain:	n/a
21	chr14:104029527-104029577	Hela-S3	cervix:	n/a
22	chr14:104029527-104029577	IMR90	lung:	fetal
23	chr14:104028889-104028939	SAEC	small airway:	n/a
24	chr14:104028889-104028939	GM12892	blood:	n/a
25	chr14:104028314-104028364	HCM	heart:	n/a
26	chr14:104029520-104029570	SAEC	small airway:	n/a
27	chr14:104029012-104029062	AG04449	skin:	fetal
28	chr14:104029029-104029079	Jurkat	blood:	n/a
29	chr14:104028314-104028364	HUVEC	blood vessel:	n/a
30	chr14:104028616-104028666	HRE	kidney:	n/a
31	chr14:104029029-104029079	IMR90	lung:	fetal
32	chr14:104029859-104029909	ECC-1	luminal epithelium:	n/a
33	chr14:104028889-104028939	HMEC	breast:	n/a
34	chr14:104028314-104028364	SK-N-MC	brain:	n/a
35	chr14:104029029-104029079	BE2_C	brain:	n/a
36	chr14:104028524-104028574	AoSMC	blood vessel:	n/a
37	chr14:104029029-104029079	HRCEpiC	kidney:	n/a
38	chr14:104029520-104029570	AG09319	gingival:	n/a
39	chr14:104029029-104029079	HNPCEpiC	eye:	n/a
40	chr14:104028524-104028574	SK-N-MC	brain:	n/a
41	chr14:104028889-104028939	NT2-D1	testis:	n/a
42	chr14:104029667-104029717	AoSMC	blood vessel:	n/a
43	chr14:104028524-104028574	HCT-116	colon:	n/a
44	chr14:104029527-104029577	HPAEpiC	pulmonary alveolar:	n/a
45	chr14:104028889-104028939	NHDF-neo	bronchial:	n/a
46	chr14:104028889-104028939	GM12878	blood:	n/a
47	chr14:104028616-104028666	SKMC	muscle:	n/a
48	chr14:104029012-104029062	ECC-1	luminal epithelium:	n/a
49	chr14:104029520-104029570	HCT-116	colon:	n/a
50	chr14:104028616-104028666	AG04449	skin:	fetal

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104026574..104032100-chr14:104033737..104038565,9	MCF-7	breast:
2	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
3	chr14:104028570..104029503-chr9:113018763..113019759,2	Hela-S3	cervix:
4	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
5	chr14:104027610..104029440-chr14:104145265..104147418,2	MCF-7	breast:
6	chr14:104027275..104029645-chr9:131939860..131941591,2	MCF-7	breast:
7	chr14:104027061..104029959-chr14:104033088..104037337,3	K562	blood:
8	chr14:104026767..104030601-chr14:104092111..104097061,5	MCF-7	breast:
9	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
10	chr14:103983696..103988397-chr14:104026059..104029809,6	K562	blood:
11	chr14:104016689..104020988-chr14:104027518..104030448,6	MCF-7	breast:
12	chr12:110718494..110719375-chr14:104028700..104029355,2	Hela-S3	cervix:
13	chr14:103995545..103997122-chr14:104028296..104030375,2	K562	blood:
14	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:
15	chr14:104018005..104022715-chr14:104023184..104028959,7	K562	blood:
16	chr14:103985364..103989946-chr14:104026445..104030227,8	MCF-7	breast:
17	chr14:103799415..103801924-chr14:104027086..104029565,3	MCF-7	breast:

No data

Variant related genes	Relation type
BAG5	TF binding region
RNU4-68P	TF binding region
APOPT1	TF binding region
ENSG00000256500	TF binding region
BAG5	CpG island
RNU4-68P	CpG island
APOPT1	CpG island
ENSG00000256500	CpG island
ENSG00000100711	chromatin interactions
ENSG00000174437	chromatin interactions
ENSG00000126214	chromatin interactions
ENSG00000136810	chromatin interactions
ENSG00000201184	chromatin interactions
ENSG00000100664	chromatin interactions
ENSG00000269963	chromatin interactions
ENSG00000258851	chromatin interactions
ENSG00000188483	chromatin interactions
ENSG00000166165	chromatin interactions
ENSG00000256053	chromatin interactions
ENSG00000166166	chromatin interactions
ENSG00000260285	chromatin interactions
ENSG00000126215	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375619271	chr14:104028360-104028361	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs530175226	chr14:104028446-104028447	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs567981854	chr14:104028455-104028456	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs533803678	chr14:104028481-104028482	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs553778725	chr14:104028491-104028492	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs570804179	chr14:104028524-104028525	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs539738142	chr14:104028531-104028532	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs556096722	chr14:104028533-104028534	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs368981913	chr14:104028549-104028550	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs180786347	chr14:104028593-104028594	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs186705911	chr14:104028658-104028659	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs557915802	chr14:104028674-104028675	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs555014783	chr14:104028682-104028683	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs574576759	chr14:104028714-104028715	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs540260177	chr14:104028715-104028716	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs372662360	chr14:104028723-104028724	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs532675442	chr14:104028735-104028736	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs373659854	chr14:104028738-104028739	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs546686750	chr14:104028750-104028751	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs191141654	chr14:104028752-104028753	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs377438399	chr14:104028754-104028755	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs562960583	chr14:104028764-104028765	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs141353603	chr14:104028775-104028776	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs548477639	chr14:104028790-104028791	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs369848011	chr14:104028801-104028802	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs55751606	chr14:104028806-104028807	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs377643610	chr14:104028812-104028813	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs547459822	chr14:104028818-104028819	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs570424634	chr14:104028870-104028871	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs539749786	chr14:104028892-104028893	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs556396714	chr14:104028894-104028895	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs569768905	chr14:104028901-104028902	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs181692086	chr14:104028911-104028912	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs555250067	chr14:104028931-104028932	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs574639762	chr14:104028937-104028938	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs540289713	chr14:104028949-104028950	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs553753090	chr14:104029003-104029004	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs576797693	chr14:104029107-104029108	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs145083096	chr14:104029123-104029124	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs563228874	chr14:104029142-104029143	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs28362583	chr14:104029188-104029189	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs72275685	chr14:104029189-104029190	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs555538214	chr14:104029195-104029196	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs55972733	chr14:104029196-104029197	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs557463526	chr14:104029199-104029200	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs201762658	chr14:104029203-104029204	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs2274269	chr14:104029246-104029247	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs375061774	chr14:104029284-104029285	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs562254406	chr14:104029288-104029289	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs185675160	chr14:104029289-104029290	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104027000-104028400	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr14:104027000-104028400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:104027000-104028400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr14:104027000-104028600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr14:104027200-104028400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr14:104027200-104028400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr14:104027200-104028400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:104027200-104028400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:104027200-104028400	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr14:104027200-104028400	Flanking Active TSS	Fetal Brain Female	brain
11	chr14:104027200-104028400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr14:104027200-104028400	Flanking Active TSS	Dnd41	blood
13	chr14:104027200-104028600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:104027200-104028600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr14:104027400-104028400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:104027400-104028400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr14:104027400-104028400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr14:104027400-104028400	Flanking Active TSS	Osteobl	bone
19	chr14:104027400-104028600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr14:104027400-104030600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr14:104027400-104030800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr14:104027400-104030800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:104027600-104028400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr14:104027600-104028400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:104027600-104028400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr14:104027600-104028400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr14:104027600-104028400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr14:104027600-104028400	Flanking Active TSS	Fetal Muscle Trunk	muscle
29	chr14:104027600-104028400	Flanking Active TSS	Placenta	Placenta
30	chr14:104027600-104028400	Flanking Active TSS	Pancreas	Pancrea
31	chr14:104027600-104028400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
32	chr14:104027600-104028600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr14:104027600-104028600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr14:104027600-104028600	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr14:104027600-104028600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr14:104027600-104028600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr14:104027600-104030200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:104027600-104030200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:104027600-104030200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:104027600-104030400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr14:104027600-104030400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr14:104027600-104030400	Active TSS	Esophagus	oesophagus
43	chr14:104027600-104030600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:104027600-104030800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:104027600-104030800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr14:104027600-104030800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr14:104027600-104030800	Active TSS	NHLF	lung
48	chr14:104027800-104028400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:104027800-104028400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr14:104027800-104028400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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