Variant report

Variant	rs56144237
Chromosome Location	chr3:196239537-196239538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11185544	0.97[ASN][1000 genomes]
rs11706197	0.81[ASN][1000 genomes]
rs11711594	0.92[ASN][1000 genomes]
rs11711952	0.97[ASN][1000 genomes]
rs11714694	0.97[ASN][1000 genomes]
rs11920455	0.94[ASN][1000 genomes]
rs12489885	0.92[ASN][1000 genomes]
rs12490276	0.84[ASN][1000 genomes]
rs12494859	0.92[ASN][1000 genomes]
rs12495687	0.92[ASN][1000 genomes]
rs2054748	0.81[ASN][1000 genomes]
rs2054749	0.81[ASN][1000 genomes]
rs2054750	0.81[ASN][1000 genomes]
rs2086891	0.97[ASN][1000 genomes]
rs2341334	0.94[ASN][1000 genomes]
rs28479172	0.81[ASN][1000 genomes]
rs2880030	0.81[ASN][1000 genomes]
rs3964310	0.97[ASN][1000 genomes]
rs4488870	0.97[ASN][1000 genomes]
rs57365032	0.92[ASN][1000 genomes]
rs60668021	0.81[ASN][1000 genomes]
rs62410583	0.92[ASN][1000 genomes]
rs6583317	0.92[ASN][1000 genomes]
rs6583318	0.92[ASN][1000 genomes]
rs66588136	0.92[ASN][1000 genomes]
rs6763760	0.95[EUR][1000 genomes]
rs6765975	0.97[ASN][1000 genomes]
rs6775794	0.92[ASN][1000 genomes]
rs6775806	0.97[ASN][1000 genomes]
rs6778889	0.89[EUR][1000 genomes]
rs6780633	0.97[ASN][1000 genomes]
rs6780856	0.97[ASN][1000 genomes]
rs6799694	0.92[ASN][1000 genomes]
rs6799697	0.84[ASN][1000 genomes]
rs6803397	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6803596	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6807081	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6807097	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6810083	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73219653	0.97[ASN][1000 genomes]
rs73219654	0.97[ASN][1000 genomes]
rs73219660	0.97[ASN][1000 genomes]
rs7614249	0.83[ASN][1000 genomes]
rs7615547	0.97[ASN][1000 genomes]
rs7623111	0.97[ASN][1000 genomes]
rs7623224	0.92[ASN][1000 genomes]
rs7629990	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651365	0.83[ASN][1000 genomes]
rs9311	0.81[ASN][1000 genomes]
rs9647412	0.81[ASN][1000 genomes]
rs9647413	0.81[ASN][1000 genomes]
rs9681119	0.84[EUR][1000 genomes]
rs9811428	0.87[ASN][1000 genomes]
rs9813420	0.81[ASN][1000 genomes]
rs9814342	0.81[ASN][1000 genomes]
rs9817377	0.81[ASN][1000 genomes]
rs9818507	0.97[ASN][1000 genomes]
rs9831225	0.81[ASN][1000 genomes]
rs9839347	0.97[ASN][1000 genomes]
rs9840938	0.97[ASN][1000 genomes]
rs9849530	0.97[ASN][1000 genomes]
rs9854347	0.87[ASN][1000 genomes]
rs9858251	0.92[ASN][1000 genomes]
rs9868492	0.81[ASN][1000 genomes]
rs9870613	0.92[ASN][1000 genomes]
rs9880563	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers 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	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196231200-196241800	Weak transcription	Psoas Muscle	Psoas
2	chr3:196234400-196242600	Weak transcription	Right Ventricle	heart
3	chr3:196235200-196240600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:196235200-196240600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:196235200-196241000	Weak transcription	Left Ventricle	heart
6	chr3:196238800-196240200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:196239200-196240000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:196239400-196239600	Enhancers	K562	blood
9	chr3:196239400-196244000	Weak transcription	HMEC	breast
10	chr3:196239400-196244000	Weak transcription	NHEK	skin
11	chr3:196239400-196245000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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