Variant report

Variant	rs73962084
Chromosome Location	chr2:145467155-145467156
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145455727..145457310-chr2:145465404..145467712,2	K562	blood:
2	chr2:145455727..145457589-chr2:145466212..145468545,2	K562	blood:
3	chr2:145463087..145468064-chr2:145468500..145471116,5	K562	blood:
4	chr2:145444859..145446664-chr2:145465647..145467615,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55647125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55665103	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55701936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55836609	1.00[AMR][1000 genomes]
rs55924315	1.00[AMR][1000 genomes]
rs55992490	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56049026	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56412031	1.00[AMR][1000 genomes]
rs56790676	1.00[AMR][1000 genomes]
rs56824932	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57273989	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59039216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59274820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59373132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60176990	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60328211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61697170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71428044	0.85[AFR][1000 genomes]
rs73962055	1.00[AMR][1000 genomes]
rs73962059	1.00[AMR][1000 genomes]
rs73962062	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962063	1.00[AMR][1000 genomes]
rs73962064	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962065	1.00[AMR][1000 genomes]
rs73962068	1.00[AMR][1000 genomes]
rs73962070	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962071	1.00[AMR][1000 genomes]
rs73962074	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962079	1.00[AMR][1000 genomes]
rs73962081	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962086	1.00[AMR][1000 genomes]
rs73962088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962089	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962096	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962101	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963912	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963913	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963914	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963915	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963916	1.00[AMR][1000 genomes]
rs73963917	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963918	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963921	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963923	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963924	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963925	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963926	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963930	1.00[AMR][1000 genomes]
rs73963931	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963934	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963936	0.81[AFR][1000 genomes]
rs73963938	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963941	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963945	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963947	0.89[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	0.92[AFR][1000 genomes];1.00[AMR][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	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
2	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
3	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
4	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv962041	chr2:145465093-145468381	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145450400-145469200	Weak transcription	Aorta	Aorta
2	chr2:145463200-145469600	Weak transcription	HSMMtube	muscle
3	chr2:145463200-145495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:145464400-145469400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:145464600-145468400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:145464600-145473400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:145465400-145467600	Enhancers	Brain Substantia Nigra	brain
8	chr2:145465400-145468000	Enhancers	NHDF-Ad	bronchial
9	chr2:145465600-145467400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:145465600-145468800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:145465600-145469600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:145466000-145467200	Enhancers	Brain Hippocampus Middle	brain
13	chr2:145466000-145467800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:145466600-145467800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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