Variant report

Variant	rs73041542
Chromosome Location	chr2:187815586-187815587
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16823870	1.00[AMR][1000 genomes]
rs16828504	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16828604	1.00[AMR][1000 genomes]
rs16828670	1.00[AMR][1000 genomes]
rs56660656	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57108035	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58719230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61342107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73039831	1.00[AMR][1000 genomes]
rs73039853	1.00[AMR][1000 genomes]
rs73041530	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041541	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041546	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043611	1.00[AMR][1000 genomes]
rs73043628	1.00[AMR][1000 genomes]
rs73043629	1.00[AMR][1000 genomes]
rs73049439	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	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv528930	chr2:187808330-187832004	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187809400-187826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:187815400-187815600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:187815400-187815600	Enhancers	NH-A	brain

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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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