Variant report

Variant	rs73036249
Chromosome Location	chr2:183148484-183148485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56787177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59800557	1.00[AMR][1000 genomes]
rs60833287	1.00[AMR][1000 genomes]
rs61033495	1.00[AMR][1000 genomes]
rs73032412	1.00[AMR][1000 genomes]
rs73032416	1.00[AMR][1000 genomes]
rs73032429	1.00[AMR][1000 genomes]
rs73032436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032439	1.00[AMR][1000 genomes]
rs73032441	1.00[AMR][1000 genomes]
rs73032443	1.00[AMR][1000 genomes]
rs73032447	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032448	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036226	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036241	1.00[AMR][1000 genomes]
rs73036251	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036260	1.00[AMR][1000 genomes]
rs73036264	1.00[AMR][1000 genomes]
rs73036265	1.00[AMR][1000 genomes]
rs73049877	0.87[AFR][1000 genomes]
rs73049880	0.87[AFR][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	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:183142200-183155600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:183147000-183148600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:183148000-183148800	Enhancers	NHEK	skin
4	chr2:183148200-183148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:183148400-183148600	Enhancers	NH-A	brain
6	chr2:183148400-183148800	Flanking Active TSS	HUVEC	blood vessel
7	chr2:183148400-183149000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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