Variant report

Variant	rs55967316
Chromosome Location	chr8:104497035-104497036
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	POLR2A	chr8:104496983-104497179	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104496081..104497638-chr8:104499194..104500889,2	K562	blood:

Variant related genes	Relation type
ENSG00000271830	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10046611	0.81[AFR][1000 genomes]
rs10098860	0.81[AFR][1000 genomes]
rs12114100	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56773931	1.00[AMR][1000 genomes]
rs57067672	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57888580	1.00[AMR][1000 genomes]
rs58003496	1.00[AMR][1000 genomes]
rs58032159	1.00[AMR][1000 genomes]
rs58052023	0.81[AFR][1000 genomes]
rs58222629	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58774639	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60299412	1.00[AMR][1000 genomes]
rs6468877	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6993163	1.00[AMR][1000 genomes]
rs6997310	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7006816	1.00[AMR][1000 genomes]
rs73696666	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696667	1.00[AMR][1000 genomes]
rs73700411	1.00[AMR][1000 genomes]
rs73700412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700414	0.81[AFR][1000 genomes]
rs73700420	0.87[AFR][1000 genomes]
rs73701882	1.00[AMR][1000 genomes]
rs73702146	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702149	1.00[AMR][1000 genomes]
rs7824892	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7825848	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7826206	1.00[AMR][1000 genomes]
rs7830015	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7843933	1.00[AMR][1000 genomes]
rs7845384	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	esv3440694	chr8:104496966-104497119	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104492000-104497800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:104492200-104497600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:104492200-104510600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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