Variant report

Variant	esv20166
Chromosome Location	chr14:104312355-104315015
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	chr14:104313258-104313291	K562	blood:	n/a	n/a
4	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
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	chr14:104314070-104314275	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr14:104313625-104314313	Hela-S3	cervix:	n/a	chr14:104314017-104314027 chr14:104313767-104313777
12	CHD2	chr14:104313992-104314251	K562	blood:	n/a	chr14:104314017-104314027
13	CHD2	chr14:104313378-104313380	GM12878	blood:	n/a	n/a
14	CHD2	chr14:104313729-104314361	GM12878	blood:	n/a	chr14:104314017-104314027 chr14:104313767-104313777
15	CHD2	chr14:104313144-104313337	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr14:104314015-104314309	HepG2	liver:	n/a	chr14:104314017-104314027
17	CREB1	chr14:104313825-104314076	A549	lung:	n/a	n/a
18	CREB1	chr14:104313819-104314302	GM12878	blood:	n/a	n/a
19	CREB1	chr14:104313665-104314682	HepG2	liver:	n/a	n/a
20	CREB1	chr14:104313696-104314468	A549	lung:	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	chr14:104314292-104314790	A549	lung:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
25	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
26	E2F6	chr14:104314250-104314665	K562	blood:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
27	E2F6	chr14:104314355-104314810	H1-hESC	embryonic stem cell:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
28	E2F6	chr14:104314351-104314865	H1-hESC	embryonic stem cell:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
29	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
30	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
31	EBF1	chr14:104314006-104314228	GM12878	blood:	n/a	n/a
32	EBF1	chr14:104314425-104314456	GM12878	blood:	n/a	n/a
33	EBF1	chr14:104314299-104314724	GM12878	blood:	n/a	chr14:104314643-104314652
34	EBF1	chr14:104314491-104314674	GM12878	blood:	n/a	chr14:104314643-104314652
35	EGR1	chr14:104313331-104313518	GM12878	blood:	n/a	chr14:104313455-104313469
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	ELF1	chr14:104313884-104314183	K562	blood:	n/a	chr14:104314101-104314113 chr14:104314100-104314109
48	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
49	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
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	chr14:104314583-104314633	CMK	blood:	n/a
2	chr14:104313012-104313062	Hela-S3	cervix:	n/a
3	chr14:104314583-104314633	CMK	blood:	n/a
4	chr14:104313012-104313062	Hela-S3	cervix:	n/a
5	chr14:104314518-104314568	HAEpiC	amniotic membrane:	n/a
6	chr14:104314518-104314568	SK-N-MC	brain:	n/a
7	chr14:104313012-104313062	Hepatocyte	liver:	n/a
8	chr14:104314434-104314484	BJ	skin:	n/a
9	chr14:104313278-104313328	AG04449	skin:	fetal
10	chr14:104313012-104313062	HL-60	blood:	n/a
11	chr14:104313278-104313328	AoSMC	blood vessel:	n/a
12	chr14:104313233-104313283	U87	brain:	n/a
13	chr14:104313278-104313328	HCT-116	colon:	n/a
14	chr14:104314583-104314633	AG09309	skin:	n/a
15	chr14:104314434-104314484	HepG2	liver:	n/a
16	chr14:104313233-104313283	HAEpiC	amniotic membrane:	n/a
17	chr14:104314438-104314488	ECC-1	luminal epithelium:	n/a
18	chr14:104313278-104313328	GM12892	blood:	n/a
19	chr14:104314557-104314607	HPAEpiC	pulmonary alveolar:	n/a
20	chr14:104313870-104313920	GM06990	blood:	n/a
21	chr14:104314518-104314568	GM12878	blood:	n/a
22	chr14:104313233-104313283	AG04450	lung:	fetal
23	chr14:104314734-104314784	NT2-D1	testis:	n/a
24	chr14:104314438-104314488	Hela-S3	cervix:	n/a
25	chr14:104314583-104314633	GM12878	blood:	n/a
26	chr14:104313012-104313062	HRPEpiC	eye:	n/a
27	chr14:104314557-104314607	GM06990	blood:	n/a
28	chr14:104314434-104314484	Hepatocyte	liver:	n/a
29	chr14:104312558-104312608	HEEpiC	esophagus:	n/a
30	chr14:104312558-104312608	SKMC	muscle:	n/a
31	chr14:104313278-104313328	ProgFib	skin:	n/a
32	chr14:104314438-104314488	ProgFib	skin:	n/a
33	chr14:104313870-104313920	HCPEpiC	choroid plexus:	n/a
34	chr14:104314583-104314633	HMEC	breast:	n/a
35	chr14:104313870-104313920	AG09319	gingival:	n/a
36	chr14:104313012-104313062	HEK293	kidney:	embryo
37	chr14:104314518-104314568	SK-N-SH_RA	brain:	n/a
38	chr14:104313278-104313328	SK-N-SH_RA	brain:	n/a
39	chr14:104314583-104314633	HCM	heart:	n/a
40	chr14:104313870-104313920	Caco-2	colon:	n/a
41	chr14:104313233-104313283	K562	blood:	n/a
42	chr14:104313012-104313062	HUVEC	blood vessel:	n/a
43	chr14:104313233-104313283	MCF-7	breast:	n/a
44	chr14:104313278-104313328	SKMC	muscle:	n/a
45	chr14:104314557-104314607	Jurkat	blood:	n/a
46	chr14:104314557-104314607	PANC-1	pancreas:	n/a
47	chr14:104313870-104313920	SK-N-SH	brain:	n/a
48	chr14:104314434-104314484	MCF10A-Er-Src	breast:	n/a
49	chr14:104314434-104314484	MCF-7	breast:	n/a
50	chr14:104314438-104314488	Caco-2	colon:	n/a

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

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
ENSG00000156414	chromatin interactions
ENSG00000253096	chromatin interactions
ENSG00000088808	chromatin interactions
ENSG00000198105	chromatin interactions
ENSG00000236514	chromatin interactions
ENSG00000258534	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000126215	chromatin interactions
ENSG00000100711	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000096384	chromatin interactions
JUP	miRNA target sites

Extended variants
information (count: 84 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189465202	chr14:104312410-104312411	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs181191777	chr14:104312411-104312412	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs186243934	chr14:104312445-104312446	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs373512276	chr14:104312473-104312474	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs532860951	chr14:104312504-104312505	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs55798317	chr14:104312542-104312543	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569725014	chr14:104312552-104312553	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs150752155	chr14:104312582-104312583	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs115024941	chr14:104312585-104312586	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs574970358	chr14:104312592-104312593	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs534164212	chr14:104312602-104312603	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs572685096	chr14:104312705-104312706	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs139075425	chr14:104312712-104312713	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs149463972	chr14:104312720-104312721	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs77139726	chr14:104312771-104312772	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs576412987	chr14:104312782-104312783	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104292000-104312400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:104295200-104312400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:104295200-104312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:104295200-104312600	Weak transcription	Small Intestine	intestine
5	chr14:104303800-104312400	Weak transcription	Adipose Nuclei	Adipose
6	chr14:104304000-104312400	Weak transcription	Lung	lung
7	chr14:104304000-104312800	Weak transcription	Esophagus	oesophagus
8	chr14:104304000-104313000	Weak transcription	Spleen	Spleen
9	chr14:104305400-104312800	Weak transcription	Gastric	stomach
10	chr14:104306200-104312400	Weak transcription	Ovary	ovary
11	chr14:104306200-104312400	Weak transcription	Psoas Muscle	Psoas
12	chr14:104306600-104312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:104306800-104312400	Weak transcription	Brain Angular Gyrus	brain
14	chr14:104306800-104312400	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:104307200-104312400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:104307200-104312400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:104307800-104312400	Weak transcription	Stomach Mucosa	stomach
18	chr14:104308800-104312400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:104309000-104312800	Weak transcription	Placenta	Placenta
20	chr14:104309200-104312400	Weak transcription	Colonic Mucosa	Colon
21	chr14:104309600-104312400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:104310600-104312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:104310600-104312400	Enhancers	HepG2	liver
24	chr14:104311000-104312400	Weak transcription	Left Ventricle	heart
25	chr14:104311000-104312800	Weak transcription	Pancreas	Pancrea
26	chr14:104311600-104312400	Enhancers	Liver	Liver
27	chr14:104311600-104312600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr14:104311600-104312600	Enhancers	Brain Cingulate Gyrus	brain
29	chr14:104311800-104312400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:104311800-104312400	Active TSS	Fetal Heart	heart
31	chr14:104311800-104312400	Enhancers	GM12878-XiMat	blood
32	chr14:104311800-104313000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:104311800-104313000	Flanking Active TSS	NHEK	skin
34	chr14:104311800-104314600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:104311800-104314600	Active TSS	Right Atrium	heart
36	chr14:104312000-104312400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:104312000-104312600	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr14:104312000-104312600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:104312000-104315200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr14:104312200-104312400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:104312200-104312400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr14:104312200-104312400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr14:104312200-104312400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr14:104312200-104312400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:104312200-104312400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr14:104312200-104312400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:104312200-104312400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr14:104312200-104312400	Active TSS	Brain Anterior Caudate	brain
49	chr14:104312200-104312400	Enhancers	Brain Substantia Nigra	brain
50	chr14:104312200-104312400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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