Variant report

Variant	rs3742720
Chromosome Location	chr14:81408304-81408305
allele	A/C
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	MYC	chr14:81407986-81408456	MCF10A-Er-Src	breast:	n/a	chr14:81408066-81408075
2	MXI1	chr14:81407471-81408344	Hela-S3	cervix:	n/a	chr14:81408060-81408075
3	MYC	chr14:81407797-81408421	NB4	blood:	n/a	chr14:81408066-81408075
4	ELF1	chr14:81407455-81408515	MCF-7	breast:	n/a	chr14:81408115-81408124
5	TBL1XR1	chr14:81407876-81408399	K562	blood:	n/a	n/a
6	POLR2A	chr14:81407807-81408439	SK-N-MC	brain:	n/a	n/a
7	TBP	chr14:81407951-81408870	GM12878	blood:	n/a	n/a
8	YY1	chr14:81407881-81408434	SK-N-SH_RA	brain:	n/a	chr14:81408112-81408123
9	MAX	chr14:81407517-81408467	Hela-S3	cervix:	n/a	chr14:81408066-81408075
10	ZBTB33	chr14:81407880-81408447	A549	lung:	n/a	n/a
11	SIN3AK20	chr14:81407357-81408773	MCF-7	breast:	n/a	n/a
12	MAX	chr14:81407978-81408376	K562	blood:	n/a	chr14:81408066-81408075
13	YY1	chr14:81407906-81408315	GM12891	blood:	n/a	chr14:81408112-81408123
14	UBTF	chr14:81407945-81408475	K562	blood:	n/a	n/a
15	TAF1	chr14:81407704-81408464	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOXM1	chr14:81407836-81408499	GM12878	blood:	n/a	chr14:81408146-81408154
17	FOS	chr14:81408024-81408424	MCF10A-Er-Src	breast:	n/a	n/a
18	TAF1	chr14:81407758-81408324	A549	lung:	n/a	n/a
19	TCF7L2	chr14:81407892-81408432	HEK293	kidney:	n/a	n/a
20	CHD2	chr14:81407569-81408446	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr14:81407642-81408406	U87	brain:	n/a	n/a
22	TBL1XR1	chr14:81407913-81408593	K562	blood:	n/a	n/a
23	ZBTB33	chr14:81407794-81408361	HCT-116	colon:	n/a	n/a
24	MXI1	chr14:81407248-81408597	IMR90	lung:	n/a	chr14:81408060-81408075
25	CTCF	chr14:81408220-81408370	HCPEpiC	choroid plexus:	n/a	n/a
26	SP1	chr14:81407540-81408573	A549	lung:	n/a	chr14:81407903-81407917 chr14:81407798-81407807
27	STAT3	chr14:81407960-81408425	MCF10A-Er-Src	breast:	n/a	chr14:81408243-81408254
28	ZNF263	chr14:81407411-81408581	HEK293-T-REx	kidney:	n/a	n/a
29	EBF1	chr14:81407900-81408893	GM12878	blood:	n/a	n/a
30	YY1	chr14:81407900-81408311	H1-hESC	embryonic stem cell:	n/a	chr14:81408112-81408123
31	POLR2A	chr14:81407687-81408304	GM12892	blood:	n/a	n/a
32	SMC3	chr14:81407547-81408429	Hela-S3	cervix:	n/a	n/a
33	KAP1	chr14:81407882-81408485	U2OS	brain:	n/a	n/a
34	USF1	chr14:81407912-81408394	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:81407750-81408374	GM15510	blood:	n/a	n/a
36	ARID3A	chr14:81408038-81408468	HepG2	liver:	n/a	n/a
37	ELF1	chr14:81407881-81408369	SK-N-SH	brain:	n/a	chr14:81408115-81408124
38	SMARCC2	chr14:81407937-81408370	Hela-S3	cervix:	n/a	chr14:81408139-81408148
39	NR2F2	chr14:81407610-81408550	MCF-7	breast:	n/a	n/a
40	YY1	chr14:81407858-81408365	ECC-1	luminal epithelium:	n/a	chr14:81408112-81408123
41	TCF7L2	chr14:81407709-81408739	HCT-116	colon:	n/a	n/a
42	BRCA1	chr14:81407957-81408768	GM12878	blood:	n/a	n/a
43	SIX5	chr14:81407934-81408357	K562	blood:	n/a	chr14:81408137-81408146 chr14:81408139-81408148
44	RFX5	chr14:81407862-81408414	Hela-S3	cervix:	n/a	chr14:81408060-81408077 chr14:81408061-81408076 chr14:81408061-81408076
45	MXI1	chr14:81407881-81408984	GM12878	blood:	n/a	chr14:81408060-81408075
46	CREB1	chr14:81408005-81408337	A549	lung:	n/a	n/a
47	ETS1	chr14:81407856-81408448	K562	blood:	n/a	chr14:81408138-81408145 chr14:81408136-81408149 chr14:81408137-81408150 chr14:81408201-81408214
48	MAFK	chr14:81407936-81408340	K562	blood:	n/a	n/a
49	ELK4	chr14:81408070-81408506	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr14:81407694-81408516	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:81408275-81408325	HRCEpiC	kidney:	n/a
2	chr14:81408275-81408325	PrEC	prostate:	n/a
3	chr14:81408275-81408325	HCM	heart:	n/a
4	chr14:81408275-81408325	HUVEC	blood vessel:	n/a
5	chr14:81408275-81408325	A549	lung:	n/a
6	chr14:81408275-81408325	HRPEpiC	eye:	n/a
7	chr14:81408275-81408325	NT2-D1	testis:	n/a
8	chr14:81408275-81408325	T-47D	breast:	n/a
9	chr14:81408275-81408325	HNPCEpiC	eye:	n/a
10	chr14:81408275-81408325	Hela-S3	cervix:	n/a
11	chr14:81408275-81408325	NHDF-neo	bronchial:	n/a
12	chr14:81408275-81408325	BE2_C	brain:	n/a
13	chr14:81408275-81408325	SKMC	muscle:	n/a
14	chr14:81408275-81408325	Jurkat	blood:	n/a
15	chr14:81408275-81408325	AG04449	skin:	fetal
16	chr14:81408275-81408325	GM19239	blood:	n/a
17	chr14:81408275-81408325	IMR90	lung:	fetal
18	chr14:81408275-81408325	AG09309	skin:	n/a
19	chr14:81408275-81408325	U87	brain:	n/a
20	chr14:81408275-81408325	HMEC	breast:	n/a
21	chr14:81408275-81408325	RPTEC	kidney:	n/a
22	chr14:81408275-81408325	HCF	heart:	n/a
23	chr14:81408275-81408325	ECC-1	luminal epithelium:	n/a
24	chr14:81408275-81408325	K562	blood:	n/a
25	chr14:81408275-81408325	HCT-116	colon:	n/a
26	chr14:81408275-81408325	HPAEpiC	pulmonary alveolar:	n/a
27	chr14:81408275-81408325	MCF10A-Er-Src	breast:	n/a
28	chr14:81408275-81408325	H1-hESC	embryonic stem cell:	embryo
29	chr14:81408275-81408325	ProgFib	skin:	n/a
30	chr14:81408275-81408325	NHBE	bronchial:	n/a
31	chr14:81408275-81408325	AG09319	gingival:	n/a
32	chr14:81408275-81408325	NB4	blood:	n/a
33	chr14:81408275-81408325	SK-N-MC	brain:	n/a
34	chr14:81408275-81408325	SK-N-SH_RA	brain:	n/a
35	chr14:81408275-81408325	GM12878	blood:	n/a
36	chr14:81408275-81408325	AG04450	lung:	fetal
37	chr14:81408275-81408325	HL-60	blood:	n/a
38	chr14:81408275-81408325	HEK293	kidney:	embryo
39	chr14:81408275-81408325	AoSMC	blood vessel:	n/a
40	chr14:81408275-81408325	CMK	blood:	n/a
41	chr14:81408275-81408325	PFSK-1	brain:	n/a
42	chr14:81408275-81408325	Hepatocyte	liver:	n/a
43	chr14:81408275-81408325	BJ	skin:	n/a
44	chr14:81408275-81408325	HIPEpiC	eye:	n/a
45	chr14:81408275-81408325	Caco-2	colon:	n/a
46	chr14:81408275-81408325	SK-N-SH	brain:	n/a
47	chr14:81408275-81408325	SAEC	small airway:	n/a
48	chr14:81408275-81408325	HEEpiC	esophagus:	n/a
49	chr14:81408275-81408325	HepG2	liver:	n/a
50	chr14:81408275-81408325	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81401790..81404001-chr14:81408260..81409826,2	K562	blood:

Variant related genes	Relation type
CEP128	TF binding region
CEP128	CpG island

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10129919	0.90[JPT][hapmap]
rs10132871	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10498551	0.90[JPT][hapmap]
rs10498552	0.90[JPT][hapmap]
rs11159475	0.90[JPT][hapmap]
rs12147744	0.95[JPT][hapmap]
rs12586161	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs12586908	0.95[JPT][hapmap]
rs12587246	0.80[ASN][1000 genomes]
rs12587367	0.89[JPT][hapmap]
rs12587844	0.95[JPT][hapmap]
rs12587883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12588075	0.80[CHD][hapmap];0.91[JPT][hapmap];1.00[MKK][hapmap]
rs12589266	0.90[JPT][hapmap]
rs12589935	0.90[JPT][hapmap]
rs12590236	0.89[EUR][1000 genomes]
rs12590277	0.89[EUR][1000 genomes]
rs12590477	0.89[JPT][hapmap];1.00[MKK][hapmap]
rs12590579	0.90[JPT][hapmap]
rs12590682	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs12878167	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12880008	0.90[JPT][hapmap]
rs12882027	0.91[JPT][hapmap]
rs12884630	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs12885049	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12885819	0.83[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12890859	0.86[CEU][hapmap];0.92[GIH][hapmap];0.89[EUR][1000 genomes]
rs12892149	0.90[JPT][hapmap]
rs12892368	0.90[JPT][hapmap]
rs12892567	0.86[CEU][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.86[EUR][1000 genomes]
rs1458992	0.90[JPT][hapmap]
rs17111078	0.90[JPT][hapmap]
rs17111143	0.90[JPT][hapmap]
rs17111149	0.82[JPT][hapmap]
rs17111151	0.90[JPT][hapmap]
rs17111165	0.91[JPT][hapmap]
rs17111167	0.90[JPT][hapmap]
rs2195101	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2284715	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs2284716	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs2284721	0.81[GIH][hapmap]
rs2371414	0.90[JPT][hapmap]
rs2371417	0.91[JPT][hapmap];1.00[MKK][hapmap]
rs2371461	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2840052	0.86[JPT][hapmap]
rs327433	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs34144142	0.80[ASN][1000 genomes]
rs34611247	0.82[ASN][1000 genomes]
rs35298517	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35728625	0.83[ASN][1000 genomes]
rs35765671	0.83[ASN][1000 genomes]
rs35847336	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3861639	0.91[JPT][hapmap]
rs55634365	0.82[ASN][1000 genomes]
rs56757452	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58078360	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60407794	0.84[ASN][1000 genomes]
rs67231034	0.86[ASN][1000 genomes]
rs7149702	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3742720	C14orf145	cis	parietal	SCAN
rs3742720	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81406400-81408400	Active TSS	GM12878-XiMat	blood
2	chr14:81406600-81408400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:81406600-81408400	Active TSS	Hela-S3	cervix
4	chr14:81406600-81408800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:81406600-81408800	Active TSS	NHLF	lung
6	chr14:81406800-81408400	Active TSS	A549	lung
7	chr14:81406800-81408400	Active TSS	HMEC	breast
8	chr14:81406800-81409000	Active TSS	K562	blood
9	chr14:81407000-81408400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:81407000-81408400	Active TSS	NHEK	skin
11	chr14:81407000-81408800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr14:81407000-81408800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:81407000-81408800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:81407200-81408400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr14:81407200-81408400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr14:81407200-81408400	Active TSS	Ovary	ovary
17	chr14:81407200-81408600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:81407200-81408600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:81407200-81408600	Active TSS	Fetal Muscle Trunk	muscle
20	chr14:81407200-81408600	Active TSS	Right Ventricle	heart
21	chr14:81407200-81408800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr14:81407200-81408800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:81407200-81408800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr14:81407200-81408800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr14:81407200-81409000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr14:81407200-81409000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr14:81407200-81409000	Active TSS	HepG2	liver
28	chr14:81407400-81408400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:81407400-81408400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:81407400-81408400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:81407400-81408400	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr14:81407400-81408400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr14:81407400-81408400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr14:81407400-81408400	Active TSS	Brain Angular Gyrus	brain
35	chr14:81407400-81408400	Active TSS	Brain Hippocampus Middle	brain
36	chr14:81407400-81408400	Active TSS	Fetal Kidney	kidney
37	chr14:81407400-81408600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr14:81407400-81408600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:81407400-81408600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:81407400-81408600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:81407400-81408600	Active TSS	Esophagus	oesophagus
42	chr14:81407400-81408600	Active TSS	Fetal Intestine Large	intestine
43	chr14:81407400-81408600	Active TSS	Right Atrium	heart
44	chr14:81407400-81408600	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr14:81407400-81408600	Active TSS	NHDF-Ad	bronchial
46	chr14:81407400-81408800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:81407400-81408800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr14:81407400-81408800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr14:81407400-81408800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:81407400-81408800	Active TSS	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links