Variant report

Variant	esv3407760
Chromosome Location	chr14:104312824-104315372
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	chr14:104313258-104313291	K562	blood:	n/a	n/a
5	BHLHE40	chr14:104313831-104314221	K562	blood:	n/a	chr14:104313854-104313870 chr14:104314094-104314110 chr14:104313950-104313966 chr14:104314095-104314111
6	BRCA1	chr14:104314080-104314189	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr14:104313227-104314522	K562	blood:	n/a	chr14:104314109-104314118 chr14:104314016-104314025 chr14:104313952-104313961 chr14:104314028-104314037
8	CEBPD	chr14:104313720-104314322	HepG2	liver:	n/a	n/a
9	CHD1	chr14:104313196-104313377	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr14:104313625-104314313	Hela-S3	cervix:	n/a	chr14:104314017-104314027 chr14:104313767-104313777
11	CHD2	chr14:104313378-104313380	GM12878	blood:	n/a	n/a
12	CHD2	chr14:104313144-104313337	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr14:104313729-104314361	GM12878	blood:	n/a	chr14:104314017-104314027 chr14:104313767-104313777
14	CHD2	chr14:104313992-104314251	K562	blood:	n/a	chr14:104314017-104314027
15	CHD2	chr14:104314070-104314275	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr14:104314015-104314309	HepG2	liver:	n/a	chr14:104314017-104314027
17	CREB1	chr14:104313696-104314468	A549	lung:	n/a	n/a
18	CREB1	chr14:104313825-104314076	A549	lung:	n/a	n/a
19	CREB1	chr14:104313665-104314682	HepG2	liver:	n/a	n/a
20	CREB1	chr14:104313819-104314302	GM12878	blood:	n/a	n/a
21	CTBP2	chr14:104314098-104315008	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr14:104314200-104314350	NHEK	skin:	n/a	n/a
23	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
24	E2F6	chr14:104314250-104314665	K562	blood:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
25	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
26	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
27	E2F6	chr14:104314355-104314810	H1-hESC	embryonic stem cell:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
28	E2F6	chr14:104314292-104314790	A549	lung:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
29	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
30	E2F6	chr14:104314351-104314865	H1-hESC	embryonic stem cell:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
31	EBF1	chr14:104314425-104314456	GM12878	blood:	n/a	n/a
32	EBF1	chr14:104314006-104314228	GM12878	blood:	n/a	n/a
33	EBF1	chr14:104314491-104314674	GM12878	blood:	n/a	chr14:104314643-104314652
34	EBF1	chr14:104314299-104314724	GM12878	blood:	n/a	chr14:104314643-104314652
35	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
36	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
37	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
38	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
39	EGR1	chr14:104313331-104313518	GM12878	blood:	n/a	chr14:104313455-104313469
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	ELF1	chr14:104313884-104314183	K562	blood:	n/a	chr14:104314101-104314113 chr14:104314100-104314109
50	ELF1	chr14:104313840-104314089	K562	blood:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104313857-104313869

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104314518-104314568	A549	lung:	n/a
2	chr14:104314434-104314484	ProgFib	skin:	n/a
3	chr14:104314583-104314633	CMK	blood:	n/a
4	chr14:104313278-104313328	GM12891	blood:	n/a
5	chr14:104313012-104313062	HRE	kidney:	n/a
6	chr14:104315223-104315273	PFSK-1	brain:	n/a
7	chr14:104314438-104314488	ProgFib	skin:	n/a
8	chr14:104313012-104313062	GM06990	blood:	n/a
9	chr14:104314734-104314784	HepG2	liver:	n/a
10	chr14:104313870-104313920	MCF-7	breast:	n/a
11	chr14:104315223-104315273	AG09319	gingival:	n/a
12	chr14:104314518-104314568	HCM	heart:	n/a
13	chr14:104314583-104314633	HAEpiC	amniotic membrane:	n/a
14	chr14:104313233-104313283	MCF-7	breast:	n/a
15	chr14:104314518-104314568	Caco-2	colon:	n/a
16	chr14:104314557-104314607	SAEC	small airway:	n/a
17	chr14:104313012-104313062	AG10803	skin:	n/a
18	chr14:104315202-104315252	HAEpiC	amniotic membrane:	n/a
19	chr14:104314438-104314488	AG10803	skin:	n/a
20	chr14:104313012-104313062	HMEC	breast:	n/a
21	chr14:104314438-104314488	NHDF-neo	bronchial:	n/a
22	chr14:104314518-104314568	HCT-116	colon:	n/a
23	chr14:104314734-104314784	HPAEpiC	pulmonary alveolar:	n/a
24	chr14:104315202-104315252	NH-A	brain:	n/a
25	chr14:104313012-104313062	NH-A	brain:	n/a
26	chr14:104313233-104313283	Hepatocyte	liver:	n/a
27	chr14:104314434-104314484	MCF-7	breast:	n/a
28	chr14:104314583-104314633	HCF	heart:	n/a
29	chr14:104314583-104314633	HNPCEpiC	eye:	n/a
30	chr14:104315223-104315273	HCM	heart:	n/a
31	chr14:104315145-104315195	AG04449	skin:	fetal
32	chr14:104314557-104314607	PANC-1	pancreas:	n/a
33	chr14:104314438-104314488	HepG2	liver:	n/a
34	chr14:104315223-104315273	ovcar-3	ovarian:	n/a
35	chr14:104314557-104314607	AG09319	gingival:	n/a
36	chr14:104314434-104314484	ECC-1	luminal epithelium:	n/a
37	chr14:104314583-104314633	BJ	skin:	n/a
38	chr14:104313233-104313283	ECC-1	luminal epithelium:	n/a
39	chr14:104314557-104314607	HRCEpiC	kidney:	n/a
40	chr14:104314557-104314607	GM12891	blood:	n/a
41	chr14:104315223-104315273	HRPEpiC	eye:	n/a
42	chr14:104315202-104315252	BE2_C	brain:	n/a
43	chr14:104315223-104315273	CMK	blood:	n/a
44	chr14:104314434-104314484	HL-60	blood:	n/a
45	chr14:104314557-104314607	GM19239	blood:	n/a
46	chr14:104314583-104314633	H1-hESC	embryonic stem cell:	embryo
47	chr14:104315145-104315195	BJ	skin:	n/a
48	chr14:104314734-104314784	BE2_C	brain:	n/a
49	chr14:104315223-104315273	PANC-1	pancreas:	n/a
50	chr14:104315223-104315273	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr14:104314115..104315805-chr14:104327365..104329517,2	MCF-7	breast:
2	chr14:104190172..104192468-chr14:104312606..104314249,2	MCF-7	breast:
3	chr14:104313265..104314013-chr6:44214391..44215226,2	Hela-S3	cervix:
4	chr10:38145874..38146756-chr14:104312524..104313161,2	Hela-S3	cervix:
5	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:
6	chr14:104313671..104314414-chr17:56736212..56736992,2	HCT-116	colon:
7	chr14:104201896..104204456-chr14:104312035..104314445,3	MCF-7	breast:
8	chr14:104312474..104314028-chr14:104433639..104437208,3	MCF-7	breast:
9	chr14:104312778..104315212-chr14:104344720..104347233,3	MCF-7	breast:
10	chr14:104313555..104317821-chr14:104384318..104388009,4	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
ENSG00000198105	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000088808	chromatin interactions
ENSG00000258534	chromatin interactions
ENSG00000126215	chromatin interactions
ENSG00000236514	chromatin interactions
ENSG00000253096	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000100711	chromatin interactions
ENSG00000156414	chromatin interactions
ENSG00000202077	chromatin interactions
JUP	miRNA target sites

Extended variants
information (count: 83 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551104755	chr14:104312850-104312851	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs562075274	chr14:104312896-104312897	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs370267533	chr14:104312907-104312908	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs547294801	chr14:104312911-104312912	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs564337469	chr14:104312921-104312922	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs533272940	chr14:104312924-104312925	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs549747788	chr14:104312958-104312959	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs544937209	chr14:104313003-104313004	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs569662468	chr14:104313004-104313005	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs528925370	chr14:104313006-104313007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs140204102	chr14:104313029-104313030	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs558421145	chr14:104313072-104313073	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs72712830	chr14:104313117-104313118	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369959001	chr14:104313141-104313142	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs145705943	chr14:104313168-104313169	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs553962015	chr14:104313203-104313204	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs113722389	chr14:104313239-104313240	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs539748637	chr14:104313261-104313262	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs556479142	chr14:104313305-104313306	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs112438274	chr14:104313341-104313342	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs541885280	chr14:104313374-104313375	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs555802187	chr14:104313452-104313453	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs375377114	chr14:104313472-104313473	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs367790506	chr14:104313474-104313475	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs371319865	chr14:104313476-104313477	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs375039431	chr14:104313478-104313479	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs369484330	chr14:104313487-104313488	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs572461162	chr14:104313555-104313556	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs541184234	chr14:104313605-104313606	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	10 gene(s)	Overlapped CNVs	n/a
30	rs7145899	chr14:104313621-104313622	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	10 gene(s)	Overlapped CNVs	n/a
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104304000-104313000	Weak transcription	Spleen	Spleen
2	chr14:104311800-104313000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:104311800-104313000	Flanking Active TSS	NHEK	skin
4	chr14:104311800-104314600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:104311800-104314600	Active TSS	Right Atrium	heart
6	chr14:104312000-104315200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:104312200-104313200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr14:104312200-104313200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr14:104312200-104313400	Flanking Active TSS	HUVEC	blood vessel
10	chr14:104312200-104314200	Active TSS	Right Ventricle	heart
11	chr14:104312200-104314600	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr14:104312400-104313000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr14:104312400-104313000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr14:104312400-104313000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr14:104312400-104313000	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:104312400-104313000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:104312400-104313000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr14:104312400-104313000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
19	chr14:104312400-104313000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr14:104312400-104313000	Bivalent Enhancer	Dnd41	blood
21	chr14:104312400-104313000	Flanking Active TSS	Hela-S3	cervix
22	chr14:104312400-104313000	Flanking Active TSS	HMEC	breast
23	chr14:104312400-104313200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:104312400-104313200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:104312400-104313200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:104312400-104313200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr14:104312400-104313200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr14:104312400-104313200	Flanking Bivalent TSS/Enh	NH-A	brain
29	chr14:104312400-104313400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr14:104312400-104313400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr14:104312400-104313400	Flanking Active TSS	Liver	Liver
32	chr14:104312400-104313400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
33	chr14:104312400-104314400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:104312400-104314600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr14:104312400-104314600	Active TSS	Left Ventricle	heart
36	chr14:104312400-104314600	Active TSS	Lung	lung
37	chr14:104312400-104315000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:104312400-104315000	Active TSS	Psoas Muscle	Psoas
39	chr14:104312600-104313000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr14:104312600-104313000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:104312600-104313000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:104312600-104313000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr14:104312600-104313000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr14:104312600-104313000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
45	chr14:104312600-104313000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr14:104312600-104313000	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr14:104312600-104313000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr14:104312600-104313000	Enhancers	Small Intestine	intestine
49	chr14:104312600-104313000	Active TSS	HepG2	liver
50	chr14:104312600-104313200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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