Variant report

Variant	rs2887280
Chromosome Location	chr5:97731463-97731464
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	MAFK	chr5:97731373-97731506	HepG2	liver:	n/a	chr5:97731450-97731465
2	MAFK	chr5:97731308-97731546	HepG2	liver:	n/a	chr5:97731450-97731465
3	MAFK	chr5:97731389-97731525	IMR90	lung:	n/a	chr5:97731450-97731465

Variant related genes	Relation type
KRT8P32	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10043610	0.83[ASN][1000 genomes]
rs10067255	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10515275	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11241318	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11744068	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11960474	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13161187	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13185967	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs13190416	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13359215	0.80[ASN][1000 genomes]
rs1378439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1378440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1378441	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1455418	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1455419	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1455420	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1455422	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1455423	0.89[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1455427	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17165927	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2219186	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34750082	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35371994	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4703069	0.89[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs56218605	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56308227	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61434460	0.90[ASN][1000 genomes]
rs6594728	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6859633	0.93[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs7713002	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7719654	0.84[ASN][1000 genomes]
rs7727877	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9326967	0.84[ASN][1000 genomes]
rs9326968	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs961713	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.91[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	nsv882407	chr5:97553255-97783046	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv882408	chr5:97616089-97836794	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv830419	chr5:97653713-97829079	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv4928	chr5:97689980-97734899	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1018555	chr5:97719032-97873906	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97721400-97733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:97728200-97734400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:97731400-97732600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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