Variant report

Variant	rs8014147
Chromosome Location	chr14:20803164-20803165
allele	C/T
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	POLR2A	chr14:20803086-20803202	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:20803088-20803233	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:20803038-20803232	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:20800915..20803438-chr14:20928341..20931027,5	MCF-7	breast:
2	chr14:20800861..20802377-chr14:20802790..20804378,2	K562	blood:
3	chr14:20799471..20803739-chr14:20921169..20925160,5	MCF-7	breast:

Variant related genes	Relation type
CCNB1IP1	TF binding region
ENSG00000092094	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000100814	Chromatin interaction
ENSG00000100823	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10129957	0.84[EUR][1000 genomes]
rs10130660	0.84[EUR][1000 genomes]
rs10147163	0.85[EUR][1000 genomes]
rs10148359	0.84[EUR][1000 genomes]
rs11622655	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12323412	0.81[EUR][1000 genomes]
rs12323610	0.84[EUR][1000 genomes]
rs12891805	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889362	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2297616	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3093882	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3093890	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3093897	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3093900	0.90[ASN][1000 genomes]
rs3093902	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3093904	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3093907	0.87[ASN][1000 genomes]
rs3093909	0.87[ASN][1000 genomes]
rs3093933	0.90[EUR][1000 genomes]
rs34848586	0.84[EUR][1000 genomes]
rs4415933	0.81[EUR][1000 genomes]
rs4981150	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981153	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981158	0.84[EUR][1000 genomes]
rs4981957	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981983	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981998	0.94[EUR][1000 genomes]
rs57101853	0.94[EUR][1000 genomes]
rs58530849	0.94[EUR][1000 genomes]
rs59821173	0.84[EUR][1000 genomes]
rs6575124	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6575135	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152084	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7155699	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7161611	0.82[EUR][1000 genomes]
rs8009242	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8022565	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8022671	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs878157	0.86[EUR][1000 genomes]
rs884368	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9323870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20801800-20803200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:20801800-20803400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:20801800-20804600	Weak transcription	K562	blood
4	chr14:20802000-20803200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:20802000-20803200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:20802000-20803200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:20802000-20803200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:20802000-20803200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:20802000-20803400	Enhancers	Primary B cells from peripheral blood	blood
10	chr14:20802000-20809600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:20802000-20810400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr14:20802200-20803200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:20802200-20803400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:20802400-20803200	Enhancers	HepG2	liver
15	chr14:20802400-20810400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:20803000-20803600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr14:20803000-20803600	Enhancers	A549	lung
18	chr14:20803000-20803800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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