Variant report

Variant	nsv519823
Chromosome Location	chr14:65230059-65241933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:688)
CpG islands
(count:672)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr14:65232596-65232902	GM12878	blood:	n/a	n/a
3	BCL3	chr14:65231224-65231747	A549	lung:	n/a	n/a
4	BCL3	chr14:65231105-65231743	A549	lung:	n/a	n/a
5	BCL3	chr14:65232702-65233000	GM12878	blood:	n/a	n/a
6	BCL3	chr14:65229717-65230125	K562	blood:	n/a	n/a
7	BHLHE40	chr14:65231495-65231729	GM12878	blood:	n/a	n/a
8	BHLHE40	chr14:65230459-65230752	HepG2	liver:	n/a	n/a
9	BHLHE40	chr14:65231634-65231789	K562	blood:	n/a	n/a
10	BHLHE40	chr14:65230576-65230669	GM12878	blood:	n/a	n/a
11	BRCA1	chr14:65231545-65231817	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr14:65231615-65231794	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr14:65231556-65231709	HepG2	liver:	n/a	n/a
14	CEBPB	chr14:65231542-65231701	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr14:65231514-65231726	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr14:65233389-65233630	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr14:65231488-65231739	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr14:65231364-65231732	GM12878	blood:	n/a	n/a
19	CHD2	chr14:65231417-65231569	HepG2	liver:	n/a	n/a
20	CHD2	chr14:65240273-65240341	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr14:65230207-65230358	K562	blood:	n/a	n/a
22	CREB1	chr14:65231434-65231749	A549	lung:	n/a	n/a
23	CTCF	chr14:65230520-65230670	HRE	kidney:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
24	CTCF	chr14:65233460-65233610	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:65230560-65230710	GM12873	blood:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
26	CTCF	chr14:65230620-65230770	WI-38	lung:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
27	CTCF	chr14:65230540-65230690	SAEC	small airway:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
28	CTCF	chr14:65230540-65230690	AG10803	skin:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
29	CTCF	chr14:65231900-65232050	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr14:65239240-65239400	GM12878	blood:	n/a	chr14:65239277-65239290
31	CTCF	chr14:65239200-65239350	WERI-Rb-1	eye:	n/a	chr14:65239277-65239290
32	CTCF	chr14:65231402-65231756	HepG2	liver:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
33	CTCF	chr14:65233560-65233710	HCT-116	colon:	n/a	chr14:65233603-65233616
34	CTCF	chr14:65230527-65230784	IMR90	lung:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
35	CTCF	chr14:65230520-65230670	GM12867	blood:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
36	CTCF	chr14:65231900-65232050	GM06990	blood:	n/a	n/a
37	CTCF	chr14:65231620-65231770	WI-38	lung:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
38	CTCF	chr14:65231900-65232050	SAEC	small airway:	n/a	n/a
39	CTCF	chr14:65230557-65230711	K562	blood:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
40	CTCF	chr14:65231238-65231969	HCT-116	colon:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
41	CTCF	chr14:65231620-65231770	GM12864	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
42	CTCF	chr14:65231580-65231730	RPTEC	kidney:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
43	CTCF	chr14:65230580-65230730	K562	blood:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
44	CTCF	chr14:65230580-65230730	HPAF	blood vessel:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
45	CTCF	chr14:65239220-65239370	HEK293	kidney:	n/a	chr14:65239277-65239290
46	CTCF	chr14:65230560-65230710	GM12865	blood:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
47	CTCF	chr14:65230554-65230745	GM19238	blood:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
48	CTCF	chr14:65231580-65231730	BJ	skin:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
49	CTCF	chr14:65230640-65230790	GM12872	blood:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
50	CTCF	chr14:65231620-65231770	HCM	heart:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65239487-65239537	AG10803	skin:	n/a
2	chr14:65239487-65239537	AG10803	skin:	n/a
3	chr14:65239487-65239537	HRPEpiC	eye:	n/a
4	chr14:65239943-65239993	AG09319	gingival:	n/a
5	chr14:65240980-65241030	HRCEpiC	kidney:	n/a
6	chr14:65239943-65239993	MCF-7	breast:	n/a
7	chr14:65236134-65236184	AoSMC	blood vessel:	n/a
8	chr14:65239943-65239993	HRCEpiC	kidney:	n/a
9	chr14:65236134-65236184	HepG2	liver:	n/a
10	chr14:65230287-65230337	ProgFib	skin:	n/a
11	chr14:65237663-65237713	NB4	blood:	n/a
12	chr14:65237663-65237713	IMR90	lung:	fetal
13	chr14:65237663-65237713	BE2_C	brain:	n/a
14	chr14:65239943-65239993	NHBE	bronchial:	n/a
15	chr14:65239487-65239537	PrEC	prostate:	n/a
16	chr14:65239653-65239703	GM12878	blood:	n/a
17	chr14:65239943-65239993	PANC-1	pancreas:	n/a
18	chr14:65230287-65230337	HepG2	liver:	n/a
19	chr14:65240980-65241030	HCM	heart:	n/a
20	chr14:65239653-65239703	SK-N-MC	brain:	n/a
21	chr14:65230287-65230337	SK-N-SH	brain:	n/a
22	chr14:65230287-65230337	PANC-1	pancreas:	n/a
23	chr14:65236134-65236184	Hela-S3	cervix:	n/a
24	chr14:65239487-65239537	PANC-1	pancreas:	n/a
25	chr14:65237663-65237713	NH-A	brain:	n/a
26	chr14:65239327-65239377	SKMC	muscle:	n/a
27	chr14:65233334-65233384	GM12878	blood:	n/a
28	chr14:65239357-65239407	CMK	blood:	n/a
29	chr14:65241834-65241884	HNPCEpiC	eye:	n/a
30	chr14:65240980-65241030	HRPEpiC	eye:	n/a
31	chr14:65239653-65239703	HCM	heart:	n/a
32	chr14:65239943-65239993	BE2_C	brain:	n/a
33	chr14:65239653-65239703	PrEC	prostate:	n/a
34	chr14:65241834-65241884	PFSK-1	brain:	n/a
35	chr14:65237663-65237713	SK-N-MC	brain:	n/a
36	chr14:65241834-65241884	SK-N-SH	brain:	n/a
37	chr14:65240980-65241030	A549	lung:	n/a
38	chr14:65239653-65239703	NB4	blood:	n/a
39	chr14:65237663-65237713	HCT-116	colon:	n/a
40	chr14:65237663-65237713	BJ	skin:	n/a
41	chr14:65239943-65239993	BJ	skin:	n/a
42	chr14:65239943-65239993	AG09309	skin:	n/a
43	chr14:65239357-65239407	AG04450	lung:	fetal
44	chr14:65239653-65239703	HEEpiC	esophagus:	n/a
45	chr14:65239487-65239537	Hela-S3	cervix:	n/a
46	chr14:65241834-65241884	HRPEpiC	eye:	n/a
47	chr14:65230287-65230337	NT2-D1	testis:	n/a
48	chr14:65240980-65241030	HIPEpiC	eye:	n/a
49	chr14:65239943-65239993	NT2-D1	testis:	n/a
50	chr14:65239943-65239993	PFSK-1	brain:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65228571..65230155-chr14:65235739..65238455,2	K562	blood:
2	chr14:65238855..65239748-chr14:65266872..65267431,2	MCF-7	breast:
3	chr14:65233747..65236577-chr14:65237458..65240181,3	MCF-7	breast:
4	chr14:65236406..65238407-chr14:65243538..65245205,2	MCF-7	breast:
5	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
6	chr14:64969302..64971888-chr14:65227488..65230502,4	MCF-7	breast:
7	chr14:65210793..65213211-chr14:65239512..65241809,2	MCF-7	breast:
8	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
9	chr14:65240103..65245460-chr14:65248143..65253609,8	MCF-7	breast:
10	chr14:64970824..64972930-chr14:65228597..65230283,2	MCF-7	breast:
11	chr14:64968342..64970352-chr14:65235886..65238559,2	MCF-7	breast:
12	chr14:65239361..65240038-chr14:65257073..65257791,2	MCF-7	breast:
13	chr14:64969741..64971347-chr14:65231667..65233544,2	MCF-7	breast:
14	chr14:65238323..65239708-chr14:65358202..65359292,7	MCF-7	breast:
15	chr14:65240846..65242521-chr14:65243960..65245791,2	K562	blood:
16	chr14:65231019..65234002-chr14:65270043..65272180,2	K562	blood:
17	chr14:65231094..65233914-chr14:65437401..65439254,2	MCF-7	breast:
18	chr14:65228571..65230155-chr14:65235739..65238455,2	K562	blood:
19	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
20	chr14:65229032..65230764-chr14:65380772..65382305,2	MCF-7	breast:
21	chr14:65232750..65234740-chr14:65252170..65254812,2	MCF-7	breast:
22	chr14:65138142..65139183-chr14:65231179..65232405,5	MCF-7	breast:
23	chr14:65238831..65239785-chr14:65358174..65359063,5	MCF-7	breast:
24	chr14:65238740..65239678-chr14:65450354..65450864,2	MCF-7	breast:
25	chr14:64970497..64972286-chr14:65229092..65231234,2	K562	blood:
26	chr14:65227919..65230155-chr14:65235739..65238455,3	K562	blood:
27	chr14:65137982..65138853-chr14:65229263..65230220,2	MCF-7	breast:
28	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
29	chr14:65235455..65238198-chr14:65239523..65242367,2	K562	blood:
30	chr14:65225623..65228058-chr14:65230939..65232636,2	K562	blood:
31	chr14:65235455..65238198-chr14:65239523..65242367,2	K562	blood:
32	chr14:65238451..65239528-chr14:65450464..65451490,3	MCF-7	breast:
33	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
34	chr14:65230521..65233110-chr14:65236260..65237883,2	MCF-7	breast:
35	chr14:65227919..65230155-chr14:65235739..65238455,3	K562	blood:
36	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
37	chr14:64970276..64971997-chr14:65229092..65230792,2	K562	blood:

No data

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

Extended variants
information (count: 680 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs873642	chr14:65230059-65230060	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139540388	chr14:65230060-65230061	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs567004653	chr14:65230097-65230098	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs536066551	chr14:65230118-65230119	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs555644065	chr14:65230136-65230137	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs749808	chr14:65230175-65230176	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs369763830	chr14:65230182-65230183	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs557879542	chr14:65230227-65230228	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs552349169	chr14:65230274-65230275	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs94789	chr14:65230317-65230318	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540190581	chr14:65230327-65230328	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs377265598	chr14:65230353-65230354	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs94788	chr14:65230358-65230359	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs548534352	chr14:65230359-65230360	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs45457997	chr14:65230366-65230367	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs542893351	chr14:65230384-65230385	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs568348185	chr14:65230404-65230405	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs531399991	chr14:65230407-65230408	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs550700918	chr14:65230431-65230432	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs564200019	chr14:65230435-65230436	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs189022724	chr14:65230455-65230456	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs543448578	chr14:65230465-65230466	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs149663523	chr14:65230489-65230490	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs375970621	chr14:65230506-65230507	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs373245421	chr14:65230507-65230508	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs144419770	chr14:65230543-65230544	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs369007060	chr14:65230553-65230554	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs372962441	chr14:65230584-65230585	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr14:65223600-65230200	Weak transcription	Primary T cells from cord blood	blood
13	chr14:65223600-65230600	Enhancers	Right Ventricle	heart
14	chr14:65223600-65231600	Enhancers	Ovary	ovary
15	chr14:65223600-65232200	Enhancers	Fetal Stomach	stomach
16	chr14:65224000-65231400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:65225200-65230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:65225200-65231200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:65227400-65231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:65227400-65231600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:65227600-65231600	Enhancers	Fetal Lung	lung
22	chr14:65227600-65231600	Enhancers	Fetal Thymus	thymus
23	chr14:65227600-65232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:65227800-65231600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr14:65228000-65231000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr14:65228200-65230200	Enhancers	Esophagus	oesophagus
27	chr14:65228200-65231600	Enhancers	HUVEC	blood vessel
28	chr14:65228200-65231800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr14:65228400-65231000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:65228400-65231200	Enhancers	NHDF-Ad	bronchial
31	chr14:65228400-65231600	Enhancers	Primary hematopoietic stem cells	blood
32	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
33	chr14:65228600-65230400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr14:65228800-65230400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr14:65228800-65230600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr14:65228800-65231600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr14:65228800-65231600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:65228800-65231600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:65228800-65234400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:65229200-65230800	Weak transcription	Liver	Liver
41	chr14:65229200-65231200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:65229200-65231400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:65229200-65231600	Enhancers	NH-A	brain
44	chr14:65229200-65233600	Enhancers	HMEC	breast
45	chr14:65229400-65230200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:65229400-65230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:65229400-65231000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr14:65229400-65231000	Enhancers	Fetal Kidney	kidney
49	chr14:65229400-65231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:65229400-65231200	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links