Variant report

Variant	rs73117401
Chromosome Location	chr5:61567961-61567962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61565090..61569863-chr5:61600797..61604336,5	K562	blood:
2	chr5:61567057..61569712-chr5:61601806..61604336,2	K562	blood:
3	chr5:61567482..61568420-chr5:61649640..61650468,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16890603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16890718	1.00[AMR][1000 genomes]
rs16890722	1.00[AMR][1000 genomes]
rs16890748	1.00[AMR][1000 genomes]
rs16890754	1.00[AMR][1000 genomes]
rs16890773	1.00[AMR][1000 genomes]
rs16890775	1.00[AMR][1000 genomes]
rs17349793	1.00[AMR][1000 genomes]
rs2053695	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60001470	1.00[AMR][1000 genomes]
rs60115750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61118775	1.00[AMR][1000 genomes]
rs6864377	1.00[AMR][1000 genomes]
rs6873199	1.00[AMR][1000 genomes]
rs6877630	1.00[AMR][1000 genomes]
rs6883414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6886876	1.00[AMR][1000 genomes]
rs6893193	1.00[AMR][1000 genomes]
rs73102077	1.00[AMR][1000 genomes]
rs73104048	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105912	1.00[AMR][1000 genomes]
rs73105928	1.00[AMR][1000 genomes]
rs73105939	1.00[AMR][1000 genomes]
rs73105968	1.00[AMR][1000 genomes]
rs73105990	1.00[AMR][1000 genomes]
rs73105993	1.00[AMR][1000 genomes]
rs73119503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73119521	1.00[AMR][1000 genomes]
rs73119543	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7725660	1.00[AMR][1000 genomes]
rs7728166	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 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	chr5:61565200-61569600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:61566600-61568000	Enhancers	K562	blood
3	chr5:61567400-61569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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