Variant report

Variant	rs73287429
Chromosome Location	chr12:30460633-30460634
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11831327	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11831819	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835199	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11837692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16906077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2018343	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4265664	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56888059	0.86[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	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv8937	chr12:30457162-30462498	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30458400-30460800	Enhancers	Placenta	Placenta
2	chr12:30459200-30461600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:30460600-30461400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:30460600-30461800	Enhancers	NHEK	skin

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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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