Variant report

Variant	nsv902025
Chromosome Location	chr14:65229364-65246181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:785)
CpG islands
(count:671)
Chromatin interactive
region (count:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	chr14:65231105-65231743	A549	lung:	n/a	n/a
4	BCL3	chr14:65228493-65229464	A549	lung:	n/a	chr14:65228768-65228781
5	BCL3	chr14:65231224-65231747	A549	lung:	n/a	n/a
6	BCL3	chr14:65232596-65232902	GM12878	blood:	n/a	n/a
7	BCL3	chr14:65229717-65230125	K562	blood:	n/a	n/a
8	BCL3	chr14:65228416-65229594	A549	lung:	n/a	chr14:65228768-65228781 chr14:65228417-65228425
9	BHLHE40	chr14:65230576-65230669	GM12878	blood:	n/a	n/a
10	BHLHE40	chr14:65242193-65242390	K562	blood:	n/a	n/a
11	BHLHE40	chr14:65231495-65231729	GM12878	blood:	n/a	n/a
12	BHLHE40	chr14:65230459-65230752	HepG2	liver:	n/a	n/a
13	BHLHE40	chr14:65231634-65231789	K562	blood:	n/a	n/a
14	BRCA1	chr14:65231556-65231709	HepG2	liver:	n/a	n/a
15	BRCA1	chr14:65231545-65231817	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr14:65231615-65231794	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr14:65228324-65229770	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr14:65242245-65242323	K562	blood:	n/a	n/a
19	CEBPB	chr14:65231542-65231701	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr14:65231514-65231726	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr14:65231364-65231732	GM12878	blood:	n/a	n/a
22	CHD2	chr14:65231488-65231739	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr14:65240273-65240341	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr14:65231417-65231569	HepG2	liver:	n/a	n/a
25	CHD2	chr14:65230207-65230358	K562	blood:	n/a	n/a
26	CHD2	chr14:65233389-65233630	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr14:65228419-65229887	Hela-S3	cervix:	n/a	n/a
28	CREB1	chr14:65231434-65231749	A549	lung:	n/a	n/a
29	CTCF	chr14:65231580-65231730	HUVEC	blood vessel:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
30	CTCF	chr14:65230589-65230716	H1-hESC	embryonic stem cell:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
31	CTCF	chr14:65233257-65233320	NHEK	skin:	n/a	n/a
32	CTCF	chr14:65239240-65239390	HCT-116	colon:	n/a	chr14:65239277-65239290
33	CTCF	chr14:65233560-65233710	HCT-116	colon:	n/a	chr14:65233603-65233616
34	CTCF	chr14:65231980-65232130	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr14:65230800-65230950	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr14:65231600-65231750	GM12865	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
37	CTCF	chr14:65239243-65239366	LNCaP	prostate:	n/a	chr14:65239277-65239290
38	CTCF	chr14:65230580-65230730	Hela-S3	cervix:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
39	CTCF	chr14:65230640-65230790	HPF	lung:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
40	CTCF	chr14:65231985-65232016	GM12878	blood:	n/a	n/a
41	CTCF	chr14:65232796-65232814	GM12891	blood:	n/a	n/a
42	CTCF	chr14:65231506-65231813	Fibrobl	skin:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
43	CTCF	chr14:65231620-65231770	NB4	blood:	n/a	chr14:65231658-65231676 chr14:65231660-65231673 chr14:65231653-65231674
44	CTCF	chr14:65231437-65231452	Fibrobl	skin:	n/a	n/a
45	CTCF	chr14:65230580-65230730	AG04449	skin:	n/a	chr14:65230642-65230663 chr14:65230647-65230665
46	CTCF	chr14:65233440-65233590	NHEK	skin:	n/a	n/a
47	CTCF	chr14:65239200-65239350	NHEK	skin:	n/a	chr14:65239277-65239290
48	CTCF	chr14:65238982-65239608	MCF-7	breast:	n/a	chr14:65239277-65239290
49	CTCF	chr14:65239200-65239350	WERI-Rb-1	eye:	n/a	chr14:65239277-65239290
50	CTCF	chr14:65239340-65239490	GM12871	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65236134-65236184	GM12878	blood:	n/a
2	chr14:65237663-65237713	PrEC	prostate:	n/a
3	chr14:65237663-65237713	ovcar-3	ovarian:	n/a
4	chr14:65241834-65241884	AoSMC	blood vessel:	n/a
5	chr14:65239487-65239537	NB4	blood:	n/a
6	chr14:65239487-65239537	H1-hESC	embryonic stem cell:	embryo
7	chr14:65241834-65241884	GM06990	blood:	n/a
8	chr14:65241834-65241884	GM12892	blood:	n/a
9	chr14:65239487-65239537	MCF-7	breast:	n/a
10	chr14:65239653-65239703	GM12878	blood:	n/a
11	chr14:65239487-65239537	LNCaP	prostate:	n/a
12	chr14:65239487-65239537	SK-N-SH_RA	brain:	n/a
13	chr14:65239327-65239377	BE2_C	brain:	n/a
14	chr14:65239653-65239703	SK-N-SH_RA	brain:	n/a
15	chr14:65239653-65239703	RPTEC	kidney:	n/a
16	chr14:65239327-65239377	HMEC	breast:	n/a
17	chr14:65239357-65239407	BE2_C	brain:	n/a
18	chr14:65239487-65239537	HepG2	liver:	n/a
19	chr14:65237663-65237713	GM12878	blood:	n/a
20	chr14:65237663-65237713	HCF	heart:	n/a
21	chr14:65233334-65233384	GM12892	blood:	n/a
22	chr14:65230287-65230337	SK-N-SH_RA	brain:	n/a
23	chr14:65241834-65241884	GM12878	blood:	n/a
24	chr14:65241834-65241884	PANC-1	pancreas:	n/a
25	chr14:65239653-65239703	AG04449	skin:	fetal
26	chr14:65239487-65239537	HEEpiC	esophagus:	n/a
27	chr14:65240980-65241030	GM12891	blood:	n/a
28	chr14:65239487-65239537	HRCEpiC	kidney:	n/a
29	chr14:65233334-65233384	HMEC	breast:	n/a
30	chr14:65239653-65239703	HCF	heart:	n/a
31	chr14:65239487-65239537	T-47D	breast:	n/a
32	chr14:65239943-65239993	NHDF-neo	bronchial:	n/a
33	chr14:65239943-65239993	HCF	heart:	n/a
34	chr14:65239357-65239407	AG09319	gingival:	n/a
35	chr14:65239943-65239993	HNPCEpiC	eye:	n/a
36	chr14:65239653-65239703	HRCEpiC	kidney:	n/a
37	chr14:65239487-65239537	AG09319	gingival:	n/a
38	chr14:65239327-65239377	SK-N-SH_RA	brain:	n/a
39	chr14:65239653-65239703	HRPEpiC	eye:	n/a
40	chr14:65240980-65241030	T-47D	breast:	n/a
41	chr14:65239327-65239377	HRPEpiC	eye:	n/a
42	chr14:65239357-65239407	SKMC	muscle:	n/a
43	chr14:65239327-65239377	ProgFib	skin:	n/a
44	chr14:65239327-65239377	HIPEpiC	eye:	n/a
45	chr14:65237663-65237713	K562	blood:	n/a
46	chr14:65239653-65239703	MCF10A-Er-Src	breast:	n/a
47	chr14:65237663-65237713	SK-N-MC	brain:	n/a
48	chr14:65236134-65236184	H1-hESC	embryonic stem cell:	embryo
49	chr14:65241834-65241884	ovcar-3	ovarian:	n/a
50	chr14:65239487-65239537	BJ	skin:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65210793..65213211-chr14:65239512..65241809,2	MCF-7	breast:
2	chr14:65235455..65238198-chr14:65239523..65242367,2	K562	blood:
3	chr14:65138142..65139183-chr14:65231179..65232405,5	MCF-7	breast:
4	chr14:65238451..65239528-chr14:65450464..65451490,3	MCF-7	breast:
5	chr14:64968342..64970352-chr14:65235886..65238559,2	MCF-7	breast:
6	chr14:65229032..65230764-chr14:65380772..65382305,2	MCF-7	breast:
7	chr14:64969741..64971347-chr14:65231667..65233544,2	MCF-7	breast:
8	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
9	chr14:65240846..65242521-chr14:65243960..65245791,2	K562	blood:
10	chr14:65243489..65248143-chr14:65249135..65251495,4	K562	blood:
11	chr14:65234409..65236355-chr14:65242728..65245039,2	K562	blood:
12	chr14:65233747..65236577-chr14:65237458..65240181,3	MCF-7	breast:
13	chr14:65228067..65229645-chr14:65348002..65349763,2	K562	blood:
14	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
15	chr14:65235455..65238198-chr14:65239523..65242367,2	K562	blood:
16	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
17	chr14:65228573..65229471-chr14:65266358..65267017,2	MCF-7	breast:
18	chr14:65231094..65233914-chr14:65437401..65439254,2	MCF-7	breast:
19	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
20	chr14:64969302..64971888-chr14:65227488..65230502,4	MCF-7	breast:
21	chr14:64970497..64972286-chr14:65229092..65231234,2	K562	blood:
22	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
23	chr14:65222955..65224467-chr14:65226753..65229376,2	K562	blood:
24	chr14:65228571..65230155-chr14:65235739..65238455,2	K562	blood:
25	chr14:65239361..65240038-chr14:65257073..65257791,2	MCF-7	breast:
26	chr14:65227919..65230155-chr14:65235739..65238455,3	K562	blood:
27	chr14:65238323..65239708-chr14:65358202..65359292,7	MCF-7	breast:
28	chr14:65232750..65234740-chr14:65252170..65254812,2	MCF-7	breast:
29	chr14:65238855..65239748-chr14:65266872..65267431,2	MCF-7	breast:
30	chr14:65230521..65233110-chr14:65236260..65237883,2	MCF-7	breast:
31	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
32	chr14:65240103..65245460-chr14:65248143..65253609,8	MCF-7	breast:
33	chr14:65137982..65138853-chr14:65229263..65230220,2	MCF-7	breast:
34	chr14:65238740..65239678-chr14:65450354..65450864,2	MCF-7	breast:
35	chr14:64970276..64971997-chr14:65229092..65230792,2	K562	blood:
36	chr14:64970824..64972930-chr14:65228597..65230283,2	MCF-7	breast:
37	chr14:65231019..65234002-chr14:65270043..65272180,2	K562	blood:
38	chr14:65238831..65239785-chr14:65358174..65359063,5	MCF-7	breast:
39	chr14:65242147..65244989-chr14:65249995..65252297,2	K562	blood:
40	chr14:65228571..65230155-chr14:65235739..65238455,2	K562	blood:
41	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
42	chr14:65236406..65238407-chr14:65243538..65245205,2	MCF-7	breast:
43	chr14:65225623..65228058-chr14:65230939..65232636,2	K562	blood:
44	chr14:65227919..65230155-chr14:65235739..65238455,3	K562	blood:
45	chr14:65236406..65238407-chr14:65243538..65245205,2	MCF-7	breast:
46	chr14:65240846..65242521-chr14:65243960..65245791,2	K562	blood:

No data

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

Extended variants
information (count: 900 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:900 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs170679	chr14:65229364-65229365	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs568416286	chr14:65229392-65229393	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs572710135	chr14:65229417-65229418	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs75846547	chr14:65229420-65229421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs60895843	chr14:65229430-65229431	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs142599538	chr14:65229448-65229449	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs539771413	chr14:65229460-65229461	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs79668750	chr14:65229472-65229473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs76589441	chr14:65229477-65229478	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs542015945	chr14:65229544-65229545	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs186536084	chr14:65229545-65229546	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs74432516	chr14:65229586-65229587	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs575219640	chr14:65229595-65229596	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs544238631	chr14:65229658-65229659	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs564101234	chr14:65229676-65229677	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs532957884	chr14:65229735-65229736	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs540576489	chr14:65229744-65229745	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs112537346	chr14:65229750-65229751	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs560149071	chr14:65229757-65229758	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs529090720	chr14:65229769-65229770	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs80185304	chr14:65229788-65229789	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs568556170	chr14:65229814-65229815	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs151331422	chr14:65229858-65229859	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs150530778	chr14:65229873-65229874	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs574717717	chr14:65229912-65229913	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs543593455	chr14:65230020-65230021	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	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
28	rs139540388	chr14:65230060-65230061	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs567004653	chr14:65230097-65230098	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs536066551	chr14:65230118-65230119	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs555644065	chr14:65230136-65230137	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	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
33	rs369763830	chr14:65230182-65230183	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs557879542	chr14:65230227-65230228	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs552349169	chr14:65230274-65230275	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	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
37	rs540190581	chr14:65230327-65230328	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs377265598	chr14:65230353-65230354	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	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
40	rs548534352	chr14:65230359-65230360	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs45457997	chr14:65230366-65230367	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs542893351	chr14:65230384-65230385	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs568348185	chr14:65230404-65230405	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs531399991	chr14:65230407-65230408	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs550700918	chr14:65230431-65230432	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs564200019	chr14:65230435-65230436	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs189022724	chr14:65230455-65230456	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs543448578	chr14:65230465-65230466	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs149663523	chr14:65230489-65230490	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs375970621	chr14:65230506-65230507	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:65219400-65230000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:65220600-65232200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:65221200-65231600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:65221200-65231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:65221400-65229800	Enhancers	Pancreas	Pancrea
8	chr14:65221400-65230000	Enhancers	Fetal Intestine Small	intestine
9	chr14:65221400-65231600	Enhancers	Spleen	Spleen
10	chr14:65221400-65232600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:65221600-65232400	Enhancers	Fetal Intestine Large	intestine
12	chr14:65221800-65232200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:65222200-65229600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr14:65222200-65231600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:65222400-65230000	Enhancers	Stomach Mucosa	stomach
16	chr14:65222600-65231600	Enhancers	Fetal Heart	heart
17	chr14:65223200-65229400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr14:65223200-65229800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:65223400-65229800	Enhancers	Left Ventricle	heart
20	chr14:65223400-65230000	Enhancers	Fetal Muscle Trunk	muscle
21	chr14:65223600-65230200	Weak transcription	Primary T cells from cord blood	blood
22	chr14:65223600-65230600	Enhancers	Right Ventricle	heart
23	chr14:65223600-65231600	Enhancers	Ovary	ovary
24	chr14:65223600-65232200	Enhancers	Fetal Stomach	stomach
25	chr14:65224000-65231400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:65225200-65230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:65225200-65231200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:65225400-65229600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr14:65227200-65229400	Bivalent Enhancer	Placenta	Placenta
30	chr14:65227400-65231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:65227400-65231600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr14:65227600-65229400	Enhancers	Rectal Smooth Muscle	rectum
33	chr14:65227600-65229800	Enhancers	Right Atrium	heart
34	chr14:65227600-65231600	Enhancers	Fetal Lung	lung
35	chr14:65227600-65231600	Enhancers	Fetal Thymus	thymus
36	chr14:65227600-65232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:65227800-65229400	Enhancers	Small Intestine	intestine
38	chr14:65227800-65230000	Enhancers	Fetal Muscle Leg	muscle
39	chr14:65227800-65231600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr14:65228000-65229600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:65228000-65229800	Enhancers	Fetal Brain Male	brain
42	chr14:65228000-65229800	Enhancers	Gastric	stomach
43	chr14:65228000-65230000	Flanking Active TSS	Hela-S3	cervix
44	chr14:65228000-65231000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr14:65228200-65229600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:65228200-65229600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr14:65228200-65229600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:65228200-65229600	Enhancers	Fetal Brain Female	brain
49	chr14:65228200-65229600	Enhancers	Lung	lung
50	chr14:65228200-65229600	Enhancers	Psoas Muscle	Psoas

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