Variant report

Variant	esv1835150
Chromosome Location	chr14:104313750-104314960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:104314042-104314335	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr14:104313800-104314519	GM12878	blood:	n/a	chr14:104313854-104313870 chr14:104314094-104314110 chr14:104314340-104314356 chr14:104314345-104314361 chr14:104314348-104314364 chr14:104313950-104313966 chr14:104314095-104314111
3	BHLHE40	chr14:104313761-104314447	HepG2	liver:	n/a	chr14:104313776-104313792 chr14:104313854-104313870 chr14:104314094-104314110 chr14:104313768-104313784 chr14:104314340-104314356 chr14:104314345-104314361 chr14:104313782-104313798 chr14:104314348-104314364 chr14:104313950-104313966 chr14:104314095-104314111
4	BHLHE40	chr14:104313831-104314221	K562	blood:	n/a	chr14:104313854-104313870 chr14:104314094-104314110 chr14:104313950-104313966 chr14:104314095-104314111
5	BRCA1	chr14:104314080-104314189	Hela-S3	cervix:	n/a	n/a
6	CCNT2	chr14:104313227-104314522	K562	blood:	n/a	chr14:104314109-104314118 chr14:104314016-104314025 chr14:104313952-104313961 chr14:104314028-104314037
7	CEBPD	chr14:104313720-104314322	HepG2	liver:	n/a	n/a
8	CHD2	chr14:104314015-104314309	HepG2	liver:	n/a	chr14:104314017-104314027
9	CHD2	chr14:104313729-104314361	GM12878	blood:	n/a	chr14:104314017-104314027 chr14:104313767-104313777
10	CHD2	chr14:104313992-104314251	K562	blood:	n/a	chr14:104314017-104314027
11	CHD2	chr14:104313625-104314313	Hela-S3	cervix:	n/a	chr14:104314017-104314027 chr14:104313767-104313777
12	CHD2	chr14:104314070-104314275	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr14:104313665-104314682	HepG2	liver:	n/a	n/a
14	CREB1	chr14:104313819-104314302	GM12878	blood:	n/a	n/a
15	CREB1	chr14:104313696-104314468	A549	lung:	n/a	n/a
16	CREB1	chr14:104313825-104314076	A549	lung:	n/a	n/a
17	CTBP2	chr14:104314098-104315008	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr14:104314200-104314350	NHEK	skin:	n/a	n/a
19	E2F4	chr14:104313884-104314284	MCF10A-Er-Src	breast:	n/a	chr14:104314101-104314111 chr14:104314016-104314028 chr14:104314016-104314025 chr14:104313997-104314006 chr14:104313947-104313957 chr14:104313952-104313961 chr14:104314103-104314112
20	E2F6	chr14:104313602-104314190	K562	blood:	n/a	chr14:104314101-104314111 chr14:104314016-104314028 chr14:104314016-104314025 chr14:104313859-104313869 chr14:104313997-104314006 chr14:104313613-104313625 chr14:104313856-104313866 chr14:104313947-104313957 chr14:104313952-104313961 chr14:104314103-104314112
21	E2F6	chr14:104314250-104314665	K562	blood:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
22	E2F6	chr14:104313352-104314708	K562	blood:	n/a	chr14:104314101-104314111 chr14:104314517-104314526 chr14:104314016-104314028 chr14:104314016-104314025 chr14:104313859-104313869 chr14:104313997-104314006 chr14:104313613-104313625 chr14:104313856-104313866 chr14:104313947-104313957 chr14:104313952-104313961 chr14:104314103-104314112 chr14:104314562-104314573
23	E2F6	chr14:104314355-104314810	H1-hESC	embryonic stem cell:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
24	E2F6	chr14:104313811-104314045	K562	blood:	n/a	chr14:104314016-104314028 chr14:104314016-104314025 chr14:104313859-104313869 chr14:104313997-104314006 chr14:104313856-104313866 chr14:104313947-104313957 chr14:104313952-104313961
25	E2F6	chr14:104314351-104314865	H1-hESC	embryonic stem cell:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
26	E2F6	chr14:104314292-104314790	A549	lung:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
27	EBF1	chr14:104314006-104314228	GM12878	blood:	n/a	n/a
28	EBF1	chr14:104314425-104314456	GM12878	blood:	n/a	n/a
29	EBF1	chr14:104314299-104314724	GM12878	blood:	n/a	chr14:104314643-104314652
30	EBF1	chr14:104314491-104314674	GM12878	blood:	n/a	chr14:104314643-104314652
31	EGR1	chr14:104313743-104314212	K562	blood:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
32	EGR1	chr14:104313709-104314365	HCT-116	colon:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
33	EGR1	chr14:104313866-104314228	GM12878	blood:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
34	EGR1	chr14:104313819-104314243	GM12878	blood:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
35	EGR1	chr14:104313759-104314334	ECC-1	luminal epithelium:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
36	EGR1	chr14:104313825-104314284	H1-hESC	embryonic stem cell:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
37	EGR1	chr14:104313764-104314209	K562	blood:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
38	EGR1	chr14:104313824-104314821	MCF-7	breast:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314580-104314590 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314579-104314589 chr14:104314010-104314025 chr14:104314711-104314721 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104314517-104314527 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023 chr14:104314711-104314724
39	EGR1	chr14:104313725-104314298	ECC-1	luminal epithelium:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
40	EGR1	chr14:104313764-104314350	HCT-116	colon:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314010-104314025 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023
41	ELF1	chr14:104313586-104314372	GM12878	blood:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104314101-104314113 chr14:104313857-104313869 chr14:104314100-104314109
42	ELF1	chr14:104313088-104314759	GM12878	blood:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104314101-104314113 chr14:104313857-104313869 chr14:104314100-104314109
43	ELF1	chr14:104313840-104314089	K562	blood:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104313857-104313869
44	ELF1	chr14:104313884-104314183	K562	blood:	n/a	chr14:104314101-104314113 chr14:104314100-104314109
45	ELF1	chr14:104313460-104315153	MCF-7	breast:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104314101-104314113 chr14:104313857-104313869 chr14:104314100-104314109
46	ELK1	chr14:104314079-104314277	Hela-S3	cervix:	n/a	n/a
47	EP300	chr14:104313964-104314316	H1-hESC	embryonic stem cell:	n/a	chr14:104314104-104314120 chr14:104314095-104314111
48	EP300	chr14:104314031-104314447	HepG2	liver:	n/a	chr14:104314104-104314120 chr14:104314095-104314111
49	EP300	chr14:104314146-104314266	K562	blood:	n/a	n/a
50	FOXM1	chr14:104313876-104314277	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104314434-104314484	IMR90	lung:	fetal
2	chr14:104314438-104314488	HEEpiC	esophagus:	n/a
3	chr14:104314583-104314633	AoSMC	blood vessel:	n/a
4	chr14:104314434-104314484	U87	brain:	n/a
5	chr14:104314434-104314484	MCF-7	breast:	n/a
6	chr14:104313870-104313920	PrEC	prostate:	n/a
7	chr14:104314438-104314488	HNPCEpiC	eye:	n/a
8	chr14:104314518-104314568	SK-N-SH	brain:	n/a
9	chr14:104314438-104314488	SK-N-SH	brain:	n/a
10	chr14:104314557-104314607	NHBE	bronchial:	n/a
11	chr14:104314518-104314568	Jurkat	blood:	n/a
12	chr14:104314734-104314784	HRE	kidney:	n/a
13	chr14:104314734-104314784	AG09319	gingival:	n/a
14	chr14:104314518-104314568	SK-N-SH_RA	brain:	n/a
15	chr14:104314518-104314568	HUVEC	blood vessel:	n/a
16	chr14:104314734-104314784	SAEC	small airway:	n/a
17	chr14:104314518-104314568	NHBE	bronchial:	n/a
18	chr14:104314557-104314607	HRPEpiC	eye:	n/a
19	chr14:104314434-104314484	NHBE	bronchial:	n/a
20	chr14:104314438-104314488	LNCaP	prostate:	n/a
21	chr14:104314438-104314488	HRCEpiC	kidney:	n/a
22	chr14:104313870-104313920	HAEpiC	amniotic membrane:	n/a
23	chr14:104313870-104313920	A549	lung:	n/a
24	chr14:104314438-104314488	SK-N-MC	brain:	n/a
25	chr14:104314438-104314488	AG09309	skin:	n/a
26	chr14:104314557-104314607	ProgFib	skin:	n/a
27	chr14:104314438-104314488	GM12891	blood:	n/a
28	chr14:104314518-104314568	MCF10A-Er-Src	breast:	n/a
29	chr14:104314438-104314488	AG04449	skin:	fetal
30	chr14:104314557-104314607	HMEC	breast:	n/a
31	chr14:104314583-104314633	NHDF-neo	bronchial:	n/a
32	chr14:104314557-104314607	NT2-D1	testis:	n/a
33	chr14:104314557-104314607	HCF	heart:	n/a
34	chr14:104313870-104313920	Hepatocyte	liver:	n/a
35	chr14:104313870-104313920	AG10803	skin:	n/a
36	chr14:104314434-104314484	HMEC	breast:	n/a
37	chr14:104314438-104314488	HCF	heart:	n/a
38	chr14:104314557-104314607	Hela-S3	cervix:	n/a
39	chr14:104314583-104314633	SK-N-MC	brain:	n/a
40	chr14:104314734-104314784	AG09309	skin:	n/a
41	chr14:104314557-104314607	HRE	kidney:	n/a
42	chr14:104314734-104314784	LNCaP	prostate:	n/a
43	chr14:104314583-104314633	HNPCEpiC	eye:	n/a
44	chr14:104314518-104314568	GM12892	blood:	n/a
45	chr14:104313870-104313920	AG04449	skin:	fetal
46	chr14:104314518-104314568	ProgFib	skin:	n/a
47	chr14:104314434-104314484	GM06990	blood:	n/a
48	chr14:104314734-104314784	GM12878	blood:	n/a
49	chr14:104314434-104314484	Jurkat	blood:	n/a
50	chr14:104314434-104314484	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:
2	chr14:104314115..104315805-chr14:104327365..104329517,2	MCF-7	breast:
3	chr14:104312474..104314028-chr14:104433639..104437208,3	MCF-7	breast:
4	chr14:104201896..104204456-chr14:104312035..104314445,3	MCF-7	breast:
5	chr14:104313265..104314013-chr6:44214391..44215226,2	Hela-S3	cervix:
6	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:
7	chr14:104313671..104314414-chr17:56736212..56736992,2	HCT-116	colon:
8	chr14:104312778..104315212-chr14:104344720..104347233,3	MCF-7	breast:
9	chr14:104190172..104192468-chr14:104312606..104314249,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2134A5.2.1-1	chr14:104314058-104314080	XLOC_010944

Variant related genes	Relation type
PPP1R13B	TF binding region
LINC00637	TF binding region
PPP1R13B	CpG island
LINC00637	CpG island
ENSG00000100711	chromatin interactions
ENSG00000253096	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000088808	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000258534	chromatin interactions
ENSG00000156414	chromatin interactions
ENSG00000126215	chromatin interactions
JUP	miRNA target sites

Extended variants
information (count: 38 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112271684	chr14:104313751-104313752	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs564274155	chr14:104313854-104313855	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs533206439	chr14:104313867-104313868	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs543734518	chr14:104313873-104313874	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs563472364	chr14:104313892-104313893	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs528861090	chr14:104313909-104313910	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs577422042	chr14:104313915-104313916	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs548726136	chr14:104313918-104313919	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs565736132	chr14:104313921-104313922	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs528184442	chr14:104314034-104314035	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs547539437	chr14:104314043-104314044	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs570707483	chr14:104314045-104314046	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs539679142	chr14:104314047-104314048	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs556418465	chr14:104314050-104314051	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs570273444	chr14:104314052-104314053	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs147744696	chr14:104314083-104314084	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
17	rs555484559	chr14:104314123-104314124	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs201530021	chr14:104314182-104314183	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs10083367	chr14:104314183-104314184	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558321643	chr14:104314231-104314232	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs577898714	chr14:104314275-104314276	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs543672484	chr14:104314310-104314311	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs543405178	chr14:104314459-104314460	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs140950233	chr14:104314462-104314463	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs376765117	chr14:104314486-104314487	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs374285887	chr14:104314632-104314633	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs529192843	chr14:104314684-104314685	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs144807465	chr14:104314698-104314699	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs369360502	chr14:104314752-104314753	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs113614893	chr14:104314760-104314761	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs372936264	chr14:104314786-104314787	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs151278042	chr14:104314790-104314791	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs566292666	chr14:104314798-104314799	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs533320837	chr14:104314803-104314804	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs549976637	chr14:104314808-104314809	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs187004523	chr14:104314942-104314943	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs535776088	chr14:104314954-104314955	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs549695258	chr14:104314960-104314961	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Mortal	21835882	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	20824076	CNVD
Colorectal cancer	20824076	CNVD
Non-small cell lung cancer	20824076	CNVD
Ovarian cancer	20824076	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104311800-104314600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:104311800-104314600	Active TSS	Right Atrium	heart
3	chr14:104312000-104315200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:104312200-104314200	Active TSS	Right Ventricle	heart
5	chr14:104312200-104314600	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr14:104312400-104314400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:104312400-104314600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr14:104312400-104314600	Active TSS	Left Ventricle	heart
9	chr14:104312400-104314600	Active TSS	Lung	lung
10	chr14:104312400-104315000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:104312400-104315000	Active TSS	Psoas Muscle	Psoas
12	chr14:104312600-104313800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:104312600-104314800	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr14:104312600-104315200	Active TSS	Ovary	ovary
15	chr14:104312800-104314400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:104312800-104314400	Active TSS	Aorta	Aorta
17	chr14:104312800-104314400	Active TSS	Gastric	stomach
18	chr14:104312800-104314600	Active TSS	Fetal Intestine Small	intestine
19	chr14:104312800-104314600	Active TSS	Pancreas	Pancrea
20	chr14:104312800-104314600	Active TSS	GM12878-XiMat	blood
21	chr14:104312800-104314800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:104312800-104314800	Active TSS	Esophagus	oesophagus
23	chr14:104312800-104315200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr14:104312800-104315200	Active TSS	Brain Anterior Caudate	brain
25	chr14:104313000-104314400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:104313000-104314400	Active TSS	HMEC	breast
27	chr14:104313000-104314600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:104313000-104314600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr14:104313000-104314600	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr14:104313000-104314600	Active TSS	Brain Hippocampus Middle	brain
31	chr14:104313000-104314600	Active TSS	Fetal Intestine Large	intestine
32	chr14:104313000-104314600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr14:104313000-104314600	Active TSS	HSMMtube	muscle
34	chr14:104313000-104314600	Active TSS	NHEK	skin
35	chr14:104313000-104314800	Active TSS	Small Intestine	intestine
36	chr14:104313000-104315200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr14:104313000-104315200	Active TSS	Hela-S3	cervix
38	chr14:104313000-104315800	Active TSS	Brain Cingulate Gyrus	brain
39	chr14:104313200-104313800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr14:104313200-104314200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:104313200-104314200	Active TSS	Fetal Kidney	kidney
42	chr14:104313200-104314400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:104313200-104314400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr14:104313200-104314400	Active TSS	NHDF-Ad	bronchial
45	chr14:104313200-104314400	Active TSS	NHLF	lung
46	chr14:104313200-104314600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:104313200-104314600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:104313200-104314600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:104313200-104314600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:104313200-104314600	Active TSS	Primary T helper cells PMA-I stimulated	--

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