Variant report

Variant	rs2680280
Chromosome Location	chr3:81888266-81888267
allele	A/T
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	POLR2A	chr3:81888216-81888750	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000242009	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1155277	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs11925940	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12495343	0.91[EUR][1000 genomes]
rs12635671	0.90[EUR][1000 genomes]
rs1375086	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs1404297	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1829967	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851917	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1971426	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1973800	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1973801	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1973803	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1973804	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1997002	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2030708	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2244294	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2252530	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2594547	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs2594549	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs2594551	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs2594553	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs2594558	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2594562	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2680245	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2680246	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2680257	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs2680260	0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2680274	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2680277	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691077	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2691078	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691079	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691080	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691083	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691084	0.81[EUR][1000 genomes]
rs2691085	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2691089	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691093	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs3772899	0.96[CEU][hapmap]
rs3772902	0.96[CEU][hapmap]
rs4273393	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4479621	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6774438	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6803932	1.00[CEU][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7611902	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653333	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs950904	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs957670	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9818090	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs9822266	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9832088	0.82[EUR][1000 genomes]
rs9860204	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81885200-81889000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:81885400-81889600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:81885800-81888400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:81886600-81889400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:81886600-81891600	Enhancers	Dnd41	blood
6	chr3:81887400-81888400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:81887400-81888800	Enhancers	GM12878-XiMat	blood
8	chr3:81887600-81889400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:81887800-81888400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:81887800-81888800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:81887800-81889400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:81888000-81888800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:81888000-81889400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr3:81888200-81888600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:81888200-81889400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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