Variant report

Variant	rs73962064
Chromosome Location	chr2:145431816-145431817
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	chr2:145429759..145432290-chr2:145432840..145435482,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs55647125	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55665103	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55701936	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55836609	1.00[AMR][1000 genomes]
rs55924315	1.00[AMR][1000 genomes]
rs55992490	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56049026	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56412031	1.00[AMR][1000 genomes]
rs56790676	1.00[AMR][1000 genomes]
rs56824932	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57273989	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59039216	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59274820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59373132	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60176990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60328211	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61697170	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962055	1.00[AMR][1000 genomes]
rs73962059	1.00[AMR][1000 genomes]
rs73962062	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962063	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962065	1.00[AMR][1000 genomes]
rs73962068	1.00[AMR][1000 genomes]
rs73962070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962071	1.00[AMR][1000 genomes]
rs73962074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962079	1.00[AMR][1000 genomes]
rs73962081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962086	1.00[AMR][1000 genomes]
rs73962088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962089	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962094	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962096	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962101	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963909	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963910	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963912	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963913	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963914	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963915	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963916	1.00[AMR][1000 genomes]
rs73963917	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963918	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963920	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963921	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963922	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963923	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963924	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963925	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963926	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963930	1.00[AMR][1000 genomes]
rs73963931	1.00[AMR][1000 genomes]
rs73963934	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963938	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963941	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963945	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963947	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963955	1.00[AMR][1000 genomes]
rs73963956	1.00[AMR][1000 genomes]
rs73963957	1.00[AMR][1000 genomes]
rs73963960	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145419000-145432800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145423000-145440600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:145424000-145433000	Weak transcription	HMEC	breast
4	chr2:145429800-145432200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:145430800-145433000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:145431400-145432400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:145431400-145432400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:145431400-145435400	Weak transcription	Fetal Kidney	kidney

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