Variant report

Variant	rs6108906
Chromosome Location	chr20:11285932-11285933
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	EBF1	chr20:11285484-11286387	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000230990	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]
rs11698064	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13038948	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13039061	0.94[ASN][1000 genomes]
rs13043539	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1535071	0.88[ASN][1000 genomes]
rs1535072	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17800232	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1997876	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1997877	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2327399	0.80[EUR][1000 genomes]
rs2327402	0.88[ASN][1000 genomes]
rs28479511	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6033092	0.88[EUR][1000 genomes]
rs6033095	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6040515	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6074279	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6074281	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6074283	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6074287	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6074294	0.84[ASN][1000 genomes]
rs6078118	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6078132	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6078136	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6078138	0.92[CEU][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes]
rs6078140	0.93[ASN][1000 genomes]
rs6078141	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6078143	0.85[EUR][1000 genomes]
rs6078144	0.87[ASN][1000 genomes]
rs6078147	0.89[ASN][1000 genomes]
rs6104738	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6104739	0.90[EUR][1000 genomes]
rs6104745	0.86[ASN][1000 genomes]
rs6108909	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs722568	0.82[CEU][hapmap];0.91[CHD][hapmap];0.83[ASN][1000 genomes]
rs988788	0.88[EUR][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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv458869	chr20:11271614-11306751	Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv585417	chr20:11271614-11306751	Weak transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11282800-11286000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:11285400-11286400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:11285400-11286600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:11285400-11286800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:11285400-11287000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:11285400-11287000	Enhancers	NHEK	skin
7	chr20:11285400-11287200	Enhancers	HMEC	breast
8	chr20:11285600-11286200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:11285600-11286200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr20:11285800-11286400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr20:11285800-11286400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr20:11285800-11286600	Enhancers	Cortex derived primary cultured neurospheres	brain

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