Variant report

Variant	rs61789819
Chromosome Location	chr1:45729859-45729860
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45716599..45723837-chr1:45726714..45733883,8	K562	blood:
2	chr1:45186275..45187906-chr1:45728961..45730546,2	K562	blood:
3	chr1:45728448..45730333-chr1:45735366..45738285,2	MCF-7	breast:
4	chr1:45185994..45187906-chr1:45728961..45731095,3	K562	blood:
5	chr1:45724453..45726184-chr1:45728358..45730973,2	K562	blood:

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1502340	1.00[AFR][1000 genomes]
rs17394390	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17397799	1.00[AFR][1000 genomes]
rs1938299	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2096435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4660298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4660299	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4660837	1.00[AFR][1000 genomes]
rs4660840	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs58612171	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61788378	1.00[AFR][1000 genomes]
rs61788379	1.00[AFR][1000 genomes]
rs61788380	1.00[AFR][1000 genomes]
rs61788382	1.00[AFR][1000 genomes]
rs61788388	1.00[AFR][1000 genomes]
rs61788389	1.00[AFR][1000 genomes]
rs61788390	1.00[AFR][1000 genomes]
rs61788393	1.00[AFR][1000 genomes]
rs61788428	1.00[AFR][1000 genomes]
rs61788429	1.00[AFR][1000 genomes]
rs61788430	1.00[AFR][1000 genomes]
rs61788436	1.00[AFR][1000 genomes]
rs61788438	1.00[AFR][1000 genomes]
rs61788439	1.00[AFR][1000 genomes]
rs61788440	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61788441	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61788447	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61788449	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61788455	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61789766	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61789768	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61789773	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61789774	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61789775	1.00[AFR][1000 genomes]
rs61789777	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61789778	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61789782	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61789785	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61789788	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61789789	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61789808	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61789809	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61789814	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61789816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61789817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61789818	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61789820	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61789821	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61789822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61789826	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61789830	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS 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	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv998187	chr1:45677251-45732377	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45726200-45731600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:45727000-45731200	Weak transcription	HepG2	liver
3	chr1:45728000-45731600	Weak transcription	NHLF	lung
4	chr1:45728200-45731800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:45728200-45731800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:45729200-45731000	Weak transcription	HUVEC	blood vessel
7	chr1:45729400-45730600	Weak transcription	K562	blood

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