Variant report

Variant	rs73219654
Chromosome Location	chr3:196247994-196247995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:196247063..196249007-chr3:196250950..196253730,2	K562	blood:
2	chr3:196229256..196232060-chr3:196247737..196250534,2	K562	blood:

Variant related genes	Relation type
ENSG00000163961	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11185544	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706197	0.84[ASN][1000 genomes]
rs11711594	0.95[ASN][1000 genomes]
rs11711952	1.00[ASN][1000 genomes]
rs11714694	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920455	0.97[ASN][1000 genomes]
rs12489885	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12490276	0.81[ASN][1000 genomes]
rs12494859	0.95[ASN][1000 genomes]
rs12495687	0.95[ASN][1000 genomes]
rs2054748	0.84[ASN][1000 genomes]
rs2054749	0.84[ASN][1000 genomes]
rs2054750	0.84[ASN][1000 genomes]
rs2086891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101285	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2341334	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2341399	0.92[EUR][1000 genomes]
rs28479172	0.84[ASN][1000 genomes]
rs2880030	0.84[ASN][1000 genomes]
rs3964310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4488870	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144237	0.97[ASN][1000 genomes]
rs57365032	0.95[ASN][1000 genomes]
rs60668021	0.84[ASN][1000 genomes]
rs62410583	0.95[ASN][1000 genomes]
rs6583317	0.95[ASN][1000 genomes]
rs6583318	0.95[ASN][1000 genomes]
rs66588136	0.95[ASN][1000 genomes]
rs6765975	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775794	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775806	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780633	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780856	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799694	0.95[ASN][1000 genomes]
rs6799697	0.87[ASN][1000 genomes]
rs6803397	0.92[ASN][1000 genomes]
rs6803596	0.87[ASN][1000 genomes]
rs6807081	0.89[ASN][1000 genomes]
rs6807097	0.92[ASN][1000 genomes]
rs6810083	0.89[ASN][1000 genomes]
rs73219653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73219660	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7614249	0.86[ASN][1000 genomes]
rs7615547	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623111	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623224	0.94[ASN][1000 genomes]
rs7629990	0.92[ASN][1000 genomes]
rs7651365	0.86[ASN][1000 genomes]
rs9311	0.84[ASN][1000 genomes]
rs9647412	0.84[ASN][1000 genomes]
rs9647413	0.84[ASN][1000 genomes]
rs9811428	0.89[ASN][1000 genomes]
rs9813420	0.84[ASN][1000 genomes]
rs9814342	0.84[ASN][1000 genomes]
rs9817377	0.84[ASN][1000 genomes]
rs9818507	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9831225	0.84[ASN][1000 genomes]
rs9839347	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840938	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9849530	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854347	0.90[ASN][1000 genomes]
rs9858251	0.95[ASN][1000 genomes]
rs9868492	0.84[ASN][1000 genomes]
rs9870613	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9880563	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
8	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv2763750	chr3:196242261-196278366	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196246400-196248200	Weak transcription	K562	blood
2	chr3:196247800-196254600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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