Variant report

Variant	rs948217
Chromosome Location	chr11:102551709-102551710
allele	C/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	SPI1	chr11:102551619-102552252	HL-60	blood:	n/a	n/a
2	FOS	chr11:102551619-102551746	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr11:102551607-102551880	Hela-S3	cervix:	n/a	n/a
4	GABPA	chr11:102551648-102552259	HL-60	blood:	n/a	n/a
5	FOS	chr11:102551651-102551809	MCF10A-Er-Src	breast:	n/a	n/a
6	REST	chr11:102551640-102552286	HL-60	blood:	n/a	n/a
7	POLR2A	chr11:102551663-102552184	HL-60	blood:	n/a	n/a
8	FOS	chr11:102551631-102551882	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr11:102551687-102551846	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:102551665-102552326	HL-60	blood:	n/a	n/a
11	CEBPB	chr11:102551705-102551916	A549	lung:	n/a	n/a
12	SPI1	chr11:102551683-102552158	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255798	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1276255	0.89[AFR][1000 genomes]
rs1276256	0.89[AFR][1000 genomes]
rs1276267	0.96[AFR][1000 genomes]
rs1276271	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1276273	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1276282	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1291325	0.96[AFR][1000 genomes]
rs1291326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1291327	0.87[AMR][1000 genomes]
rs1320632	0.90[CEU][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs1939011	0.91[AMR][1000 genomes]
rs1939018	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1939020	0.87[AMR][1000 genomes]
rs1940463	0.89[AFR][1000 genomes]
rs1940472	0.96[AFR][1000 genomes]
rs1940479	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1940481	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2155052	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs2464361	0.89[AFR][1000 genomes]
rs2509010	1.00[ASW][hapmap];0.90[LWK][hapmap];0.82[YRI][hapmap]
rs2509026	0.82[AFR][1000 genomes]
rs2509238	0.89[AFR][1000 genomes]
rs2509239	0.82[AFR][1000 genomes]
rs2701988	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2701994	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2846341	0.89[AFR][1000 genomes]
rs2846343	0.96[AFR][1000 genomes]
rs2846356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2846363	0.90[CEU][hapmap];1.00[YRI][hapmap]
rs2846364	1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2846368	0.93[AFR][1000 genomes]
rs2846702	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2846703	1.00[LWK][hapmap]
rs2846706	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2846707	1.00[YRI][hapmap]
rs2846708	0.82[AFR][1000 genomes]
rs2846710	0.89[AFR][1000 genomes]
rs2846712	0.89[AFR][1000 genomes]
rs2846713	0.86[AFR][1000 genomes]
rs6590984	0.91[AMR][1000 genomes]
rs7121624	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832252	chr11:102445479-102627879	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1037454	chr11:102487521-102601233	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541156	chr11:102487521-102601233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102548600-102556000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:102549000-102554400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr11:102550000-102552600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr11:102550800-102555600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:102551200-102552600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:102551400-102552200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:102551400-102552400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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