Variant report

Variant	rs61231337
Chromosome Location	chr8:54800049-54800050
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	WRNIP1	chr8:54799936-54800235	GM12878	blood:	n/a	n/a
2	CTCF	chr8:54799900-54800050	RPTEC	kidney:	n/a	n/a
3	CTCF	chr8:54799980-54800130	RPTEC	kidney:	n/a	n/a
4	POLR2A	chr8:54799735-54800053	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000244159	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1004228	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10504158	0.84[ASN][1000 genomes]
rs1384797	0.85[ASN][1000 genomes]
rs1483538	0.82[ASN][1000 genomes]
rs1483539	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1483540	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1483542	0.84[ASN][1000 genomes]
rs16919616	0.82[ASN][1000 genomes]
rs1842982	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1842983	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1842984	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2062226	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57546155	0.82[ASN][1000 genomes]
rs57553178	0.81[ASN][1000 genomes]
rs58652215	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6997050	0.82[ASN][1000 genomes]
rs7017967	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73680341	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73680342	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73680346	0.92[ASN][1000 genomes]
rs7827611	0.86[ASN][1000 genomes]
rs7831399	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54795600-54801400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:54798000-54800200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:54798000-54801000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:54798200-54800200	Flanking Active TSS	A549	lung
5	chr8:54798400-54814600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:54799000-54800200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:54799000-54800600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:54799000-54801000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:54799200-54803800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:54799400-54800200	Enhancers	NHLF	lung
11	chr8:54799400-54800400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:54799400-54800400	Enhancers	HMEC	breast
13	chr8:54799400-54800400	Enhancers	NHEK	skin
14	chr8:54799400-54812200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:54799800-54800200	Flanking Active TSS	GM12878-XiMat	blood
16	chr8:54799800-54812400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:54800000-54801000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:54800000-54801200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:54800000-54802400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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