Variant report

Variant	esv3356966
Chromosome Location	chr14:65230599-65234897
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	chr14:65231659-65231671	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr14:65232702-65233000	GM12878	blood:	n/a	n/a
3	BCL3	chr14:65232596-65232902	GM12878	blood:	n/a	n/a
4	BCL3	chr14:65231105-65231743	A549	lung:	n/a	n/a
5	BCL3	chr14:65231224-65231747	A549	lung:	n/a	n/a
6	BHLHE40	chr14:65231634-65231789	K562	blood:	n/a	n/a
7	BHLHE40	chr14:65230576-65230669	GM12878	blood:	n/a	n/a
8	BHLHE40	chr14:65230459-65230752	HepG2	liver:	n/a	n/a
9	BHLHE40	chr14:65231495-65231729	GM12878	blood:	n/a	n/a
10	BRCA1	chr14:65231545-65231817	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr14:65231556-65231709	HepG2	liver:	n/a	n/a
12	BRCA1	chr14:65231615-65231794	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr14:65231542-65231701	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr14:65231514-65231726	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr14:65231488-65231739	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr14:65231364-65231732	GM12878	blood:	n/a	n/a
17	CHD2	chr14:65233389-65233630	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr14:65231417-65231569	HepG2	liver:	n/a	n/a
19	CREB1	chr14:65231434-65231749	A549	lung:	n/a	n/a
20	CTCF	chr14:65231600-65231750	GM12869	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
21	CTCF	chr14:65230472-65230828	GM12878	blood:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
22	CTCF	chr14:65230740-65230890	GM12878	blood:	n/a	n/a
23	CTCF	chr14:65231543-65231819	Hela-S3	cervix:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
24	CTCF	chr14:65230480-65230630	GM12870	blood:	n/a	n/a
25	CTCF	chr14:65231580-65231730	AG09319	gingival:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
26	CTCF	chr14:65233527-65233703	MCF-7	breast:	n/a	chr14:65233603-65233616
27	CTCF	chr14:65231971-65232010	GM19240	blood:	n/a	n/a
28	CTCF	chr14:65231620-65231770	NB4	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
29	CTCF	chr14:65233460-65233610	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:65231200-65231350	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr14:65230460-65230610	HMEC	breast:	n/a	n/a
32	CTCF	chr14:65231580-65231730	GM12866	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
33	CTCF	chr14:65231660-65231810	A549	lung:	n/a	chr14:65231660-65231673
34	CTCF	chr14:65231523-65231804	MCF-7	breast:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
35	CTCF	chr14:65230826-65230835	GM12892	blood:	n/a	n/a
36	CTCF	chr14:65231521-65231743	SK-N-SH_RA	brain:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
37	CTCF	chr14:65231580-65231730	SAEC	small airway:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
38	CTCF	chr14:65230567-65230749	Hela-S3	cervix:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
39	CTCF	chr14:65230720-65230870	NHLF	lung:	n/a	n/a
40	CTCF	chr14:65230557-65230711	K562	blood:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
41	CTCF	chr14:65231490-65231827	MCF-7	breast:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
42	CTCF	chr14:65230560-65230710	HMEC	breast:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
43	CTCF	chr14:65231600-65231750	BE2_C	brain:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
44	CTCF	chr14:65231580-65231730	AoAF	blood vessel:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
45	CTCF	chr14:65231580-65231730	HPF	lung:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
46	CTCF	chr14:65230540-65230690	AG09309	skin:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
47	CTCF	chr14:65230560-65230710	WERI-Rb-1	eye:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
48	CTCF	chr14:65231920-65232070	GM12871	blood:	n/a	n/a
49	CTCF	chr14:65231860-65232010	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr14:65230330-65232226	SK-N-SH	brain:	n/a	chr14:65230642-65230663 chr14:65231658-65231676 chr14:65230647-65230665 chr14:65231660-65231673 chr14:65231653-65231674

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65233334-65233384	ovcar-3	ovarian:	n/a
2	chr14:65233334-65233384	ECC-1	luminal epithelium:	n/a
3	chr14:65233334-65233384	HPAEpiC	pulmonary alveolar:	n/a
4	chr14:65233334-65233384	HEK293	kidney:	embryo
5	chr14:65233334-65233384	AG10803	skin:	n/a
6	chr14:65233334-65233384	MCF-7	breast:	n/a
7	chr14:65233334-65233384	MCF10A-Er-Src	breast:	n/a
8	chr14:65233334-65233384	Jurkat	blood:	n/a
9	chr14:65233334-65233384	PFSK-1	brain:	n/a
10	chr14:65233334-65233384	BE2_C	brain:	n/a
11	chr14:65233334-65233384	AoSMC	blood vessel:	n/a
12	chr14:65233334-65233384	NHBE	bronchial:	n/a
13	chr14:65233334-65233384	K562	blood:	n/a
14	chr14:65233334-65233384	HIPEpiC	eye:	n/a
15	chr14:65233334-65233384	SKMC	muscle:	n/a
16	chr14:65233334-65233384	NHDF-neo	bronchial:	n/a
17	chr14:65233334-65233384	HL-60	blood:	n/a
18	chr14:65233334-65233384	HRCEpiC	kidney:	n/a
19	chr14:65233334-65233384	HCM	heart:	n/a
20	chr14:65233334-65233384	SK-N-MC	brain:	n/a
21	chr14:65233334-65233384	NT2-D1	testis:	n/a
22	chr14:65233334-65233384	HAEpiC	amniotic membrane:	n/a
23	chr14:65233334-65233384	Hepatocyte	liver:	n/a
24	chr14:65233334-65233384	HCPEpiC	choroid plexus:	n/a
25	chr14:65233334-65233384	AG04449	skin:	fetal
26	chr14:65233334-65233384	SK-N-SH_RA	brain:	n/a
27	chr14:65233334-65233384	SK-N-SH	brain:	n/a
28	chr14:65233334-65233384	AG09319	gingival:	n/a
29	chr14:65233334-65233384	RPTEC	kidney:	n/a
30	chr14:65233334-65233384	ProgFib	skin:	n/a
31	chr14:65233334-65233384	AG04450	lung:	fetal
32	chr14:65233334-65233384	Caco-2	colon:	n/a
33	chr14:65233334-65233384	A549	lung:	n/a
34	chr14:65233334-65233384	NB4	blood:	n/a
35	chr14:65233334-65233384	AG09309	skin:	n/a
36	chr14:65233334-65233384	IMR90	lung:	fetal
37	chr14:65233334-65233384	GM12891	blood:	n/a
38	chr14:65233334-65233384	HRE	kidney:	n/a
39	chr14:65233334-65233384	HEEpiC	esophagus:	n/a
40	chr14:65233334-65233384	GM06990	blood:	n/a
41	chr14:65233334-65233384	GM19239	blood:	n/a
42	chr14:65233334-65233384	NH-A	brain:	n/a
43	chr14:65233334-65233384	T-47D	breast:	n/a
44	chr14:65233334-65233384	HUVEC	blood vessel:	n/a
45	chr14:65233334-65233384	HCT-116	colon:	n/a
46	chr14:65233334-65233384	HMEC	breast:	n/a
47	chr14:65233334-65233384	H1-hESC	embryonic stem cell:	embryo
48	chr14:65233334-65233384	GM12878	blood:	n/a
49	chr14:65233334-65233384	HCF	heart:	n/a
50	chr14:65233334-65233384	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
2	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
3	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
4	chr14:65231094..65233914-chr14:65437401..65439254,2	MCF-7	breast:
5	chr14:64970497..64972286-chr14:65229092..65231234,2	K562	blood:
6	chr14:65225623..65228058-chr14:65230939..65232636,2	K562	blood:
7	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
8	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
9	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
10	chr14:65138142..65139183-chr14:65231179..65232405,5	MCF-7	breast:
11	chr14:65231019..65234002-chr14:65270043..65272180,2	K562	blood:
12	chr14:64970276..64971997-chr14:65229092..65230792,2	K562	blood:
13	chr14:65229032..65230764-chr14:65380772..65382305,2	MCF-7	breast:
14	chr14:64969741..64971347-chr14:65231667..65233544,2	MCF-7	breast:
15	chr14:65232750..65234740-chr14:65252170..65254812,2	MCF-7	breast:

Variant related genes	Relation type
SPTB	TF binding region
SPTB	CpG island
ENSG00000070182	chromatin interactions
ENSG00000125954	chromatin interactions
ENSG00000126804	chromatin interactions
ENSG00000258289	chromatin interactions
ENSG00000126822	chromatin interactions
ENSG00000139998	chromatin interactions
ENSG00000089775	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564694710	chr14:65230602-65230603	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs569394026	chr14:65230611-65230612	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs530889193	chr14:65230622-65230623	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs557891877	chr14:65230623-65230624	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs547526273	chr14:65230645-65230646	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs577785992	chr14:65230684-65230685	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs1109606	chr14:65230748-65230749	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs553522665	chr14:65230768-65230769	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs139458113	chr14:65230784-65230785	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs1109607	chr14:65230793-65230794	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562791486	chr14:65230835-65230836	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs575839833	chr14:65230861-65230862	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs529229803	chr14:65230862-65230863	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs544756232	chr14:65230876-65230877	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs564260442	chr14:65230897-65230898	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs1109608	chr14:65230953-65230954	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs547052149	chr14:65230961-65230962	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs143641404	chr14:65230997-65230998	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs181742118	chr14:65231032-65231033	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs529281114	chr14:65231054-65231055	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs549423083	chr14:65231106-65231107	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs569526573	chr14:65231121-65231122	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs538463373	chr14:65231124-65231125	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs551972234	chr14:65231127-65231128	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs141732374	chr14:65231137-65231138	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs386778329	chr14:65231191-65231192	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs533903490	chr14:65231192-65231193	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs553827480	chr14:65231317-65231318	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs142948421	chr14:65231365-65231366	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs536202635	chr14:65231379-65231380	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs151061003	chr14:65231421-65231422	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs140969072	chr14:65231438-65231439	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs544817118	chr14:65231461-65231462	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs564769888	chr14:65231487-65231488	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs571885975	chr14:65231493-65231494	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs554876775	chr14:65231520-65231521	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs150220138	chr14:65231601-65231602	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs10148978	chr14:65231609-65231610	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs111229352	chr14:65231667-65231668	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs116093571	chr14:65231703-65231704	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs557541663	chr14:65231725-65231726	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs542981597	chr14:65231734-65231735	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs567637164	chr14:65231742-65231743	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs577356933	chr14:65231743-65231744	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs570414192	chr14:65231759-65231760	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs367713771	chr14:65231760-65231761	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs229583	chr14:65231761-65231762	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs563191636	chr14:65231763-65231764	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs532080162	chr14:65231765-65231766	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs552080988	chr14:65231777-65231778	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:65220600-65232200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:65221200-65231600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:65221200-65231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:65221400-65231600	Enhancers	Spleen	Spleen
7	chr14:65221400-65232600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:65221600-65232400	Enhancers	Fetal Intestine Large	intestine
9	chr14:65221800-65232200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:65222200-65231600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:65222600-65231600	Enhancers	Fetal Heart	heart
12	chr14:65223600-65230600	Enhancers	Right Ventricle	heart
13	chr14:65223600-65231600	Enhancers	Ovary	ovary
14	chr14:65223600-65232200	Enhancers	Fetal Stomach	stomach
15	chr14:65224000-65231400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:65225200-65230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:65225200-65231200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:65227400-65231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:65227400-65231600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:65227600-65231600	Enhancers	Fetal Lung	lung
21	chr14:65227600-65231600	Enhancers	Fetal Thymus	thymus
22	chr14:65227600-65232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:65227800-65231600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr14:65228000-65231000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:65228200-65231600	Enhancers	HUVEC	blood vessel
26	chr14:65228200-65231800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:65228400-65231000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:65228400-65231200	Enhancers	NHDF-Ad	bronchial
29	chr14:65228400-65231600	Enhancers	Primary hematopoietic stem cells	blood
30	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
31	chr14:65228800-65230600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr14:65228800-65231600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr14:65228800-65231600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:65228800-65231600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:65228800-65234400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:65229200-65230800	Weak transcription	Liver	Liver
37	chr14:65229200-65231200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:65229200-65231400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:65229200-65231600	Enhancers	NH-A	brain
40	chr14:65229200-65233600	Enhancers	HMEC	breast
41	chr14:65229400-65230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:65229400-65231000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:65229400-65231000	Enhancers	Fetal Kidney	kidney
44	chr14:65229400-65231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:65229400-65231200	Enhancers	Brain Germinal Matrix	brain
46	chr14:65229400-65231400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:65229400-65232200	Enhancers	Placenta	Placenta
48	chr14:65229600-65230600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:65229600-65230600	Weak transcription	Adipose Nuclei	Adipose
50	chr14:65229600-65230600	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links