Variant report

Variant	rs73311046
Chromosome Location	chr10:50751343-50751344
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	STAT1	chr10:50751158-50752083	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50749402..50751390-chr10:50767694..50770332,2	K562	blood:

Variant related genes	Relation type
ERCC6	TF binding region
PGBD3	TF binding region
ERCC6-PGBD3	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10450344	0.89[AMR][1000 genomes]
rs2228525	0.87[AMR][1000 genomes]
rs4253010	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4253029	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4253050	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4253061	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4253069	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4253102	0.80[AFR][1000 genomes]
rs4253109	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4253112	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4253133	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4253151	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4253225	0.87[AMR][1000 genomes]
rs4838531	0.87[AMR][1000 genomes]
rs57865789	1.00[AMR][1000 genomes]
rs59862996	0.89[AMR][1000 genomes]
rs60749172	1.00[AMR][1000 genomes]
rs73315042	1.00[AMR][1000 genomes]
rs73315047	1.00[AMR][1000 genomes]
rs73315061	1.00[AMR][1000 genomes]
rs73315065	1.00[AMR][1000 genomes]
rs73315070	0.89[AMR][1000 genomes]
rs73315072	0.89[AMR][1000 genomes]
rs73315075	0.89[AMR][1000 genomes]
rs73315077	1.00[AMR][1000 genomes]
rs73315079	0.89[AMR][1000 genomes]
rs73315083	0.89[AMR][1000 genomes]
rs73315085	1.00[AMR][1000 genomes]
rs73315090	0.89[AMR][1000 genomes]
rs73315096	1.00[AMR][1000 genomes]
rs73316905	1.00[AMR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr10:50748200-50752800	Weak transcription	Hela-S3	cervix
2	chr10:50750200-50757200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:50750400-50751400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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