Variant report

Variant	rs2701664
Chromosome Location	chr2:182908664-182908665
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	FOSL1	chr2:182908479-182909079	HCT-116	colon:	n/a	n/a
2	STAT3	chr2:182908577-182908945	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr2:182908605-182908904	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:182908597-182908923	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:182908582-182908878	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr2:182908595-182908890	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:182908580-182908904	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:182906361..182909184-chr2:182914653..182916987,2	MCF-7	breast:
2	chr2:182882713..182885519-chr2:182907947..182910260,2	K562	blood:
3	chr2:182907897..182910673-chr2:182917209..182920501,4	K562	blood:

Variant related genes	Relation type
RNA5SP113	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1196155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196157	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196161	0.95[YRI][hapmap]
rs1196167	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1196183	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196184	0.95[YRI][hapmap]
rs1196185	0.93[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12617778	0.84[EUR][1000 genomes]
rs12693291	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs12693292	0.94[CEU][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13003589	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs13017711	0.86[EUR][1000 genomes]
rs1400009	0.82[EUR][1000 genomes]
rs16822401	1.00[CEU][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs16822409	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16822412	0.82[EUR][1000 genomes]
rs1913896	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666807	0.84[EUR][1000 genomes]
rs6433953	0.94[CEU][hapmap];0.86[CHD][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6732434	0.83[EUR][1000 genomes]
rs6747855	0.83[EUR][1000 genomes]
rs7560061	0.86[EUR][1000 genomes]
rs7589699	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2701664	PPP1R1C	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182903200-182928400	Weak transcription	Left Ventricle	heart
2	chr2:182904000-182912000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:182907400-182912200	Weak transcription	Osteobl	bone
4	chr2:182907600-182911800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:182907600-182915600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:182908000-182912000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:182908200-182908800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:182908400-182908800	Enhancers	NHEK	skin
9	chr2:182908400-182909000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:182908400-182909000	Enhancers	HMEC	breast

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