Variant report

Variant	rs848090
Chromosome Location	chr14:37274665-37274666
allele	A/G
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	CTBP2	chr14:37274301-37274683	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37268731..37270802-chr14:37273914..37276158,2	K562	blood:

Variant related genes	Relation type
ENSG00000258601	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10134198	0.89[EUR][1000 genomes]
rs10134532	0.89[EUR][1000 genomes]
rs10134535	0.89[EUR][1000 genomes]
rs1325533	1.00[CHB][hapmap];0.81[YRI][hapmap]
rs1325534	0.87[EUR][1000 genomes]
rs1325535	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs1325537	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs1739611	0.90[EUR][1000 genomes]
rs1739613	0.90[EUR][1000 genomes]
rs1749926	0.90[EUR][1000 genomes]
rs1749927	0.91[CEU][hapmap];0.93[CHB][hapmap];0.90[EUR][1000 genomes]
rs1749928	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes]
rs1749929	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs1749944	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes]
rs1749945	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs1853812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2764953	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs2764954	0.90[EUR][1000 genomes]
rs2764958	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2774037	0.90[EUR][1000 genomes]
rs2774038	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs2774039	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs712324	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712328	0.93[CHB][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs712333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs73264788	0.90[EUR][1000 genomes]
rs848093	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs848094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs848095	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs848098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848100	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848101	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848102	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848103	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848104	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848105	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848108	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs848109	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs848110	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs848111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs848113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs848114	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848115	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848116	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848117	0.81[CEU][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes]
rs848118	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848119	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848122	0.93[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs848090	RP11-81F13.2	cis	Esophagus Mucosa	GTEx
rs848090	RP11-81F13.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37274000-37275000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr14:37274000-37275000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr14:37274200-37274800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr14:37274200-37274800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:37274200-37274800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:37274200-37275000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr14:37274200-37275000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:37274200-37275000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:37274200-37275000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:37274200-37275000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:37274200-37275000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:37274200-37275200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:37274200-37275200	Enhancers	Fetal Heart	heart
14	chr14:37274400-37274800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:37274400-37275000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:37274600-37276800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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