Variant report

Variant	rs4814383
Chromosome Location	chr20:15466269-15466270
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1233759	0.94[CEU][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233760	0.94[CEU][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233761	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233762	0.94[CEU][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233763	0.94[CEU][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233764	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233766	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233767	1.00[CEU][hapmap]
rs1233768	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233769	1.00[CEU][hapmap];0.90[MEX][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233771	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233772	1.00[ASN][1000 genomes]
rs1558739	0.94[CEU][hapmap];1.00[CHD][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2145017	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2208136	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224301	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2876408	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814382	0.82[AMR][1000 genomes]
rs4814384	0.94[CEU][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes]
rs4814389	1.00[CEU][hapmap];0.83[GIH][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56249914	0.86[ASN][1000 genomes]
rs6034202	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6034203	0.86[AMR][1000 genomes]
rs6034204	0.82[AMR][1000 genomes]
rs6043331	0.94[CEU][hapmap]
rs6135422	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs721318	0.94[CEU][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]

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	nsv1062252	chr20:14964258-15547739	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv544206	chr20:14964258-15547739	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv833927	chr20:15362602-15520185	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15463200-15467400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:15465400-15467200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr20:15465600-15466400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr20:15465600-15466800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr20:15465800-15466400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr20:15466000-15466400	Enhancers	Brain Germinal Matrix	brain
7	chr20:15466000-15466600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr20:15466000-15469200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:15466200-15466400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:15466200-15469000	Enhancers	Fetal Heart	heart

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