Variant report

Variant	rs73540867
Chromosome Location	chr16:48142774-48142775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs55851123	1.00[AMR][1000 genomes]
rs56009985	1.00[AMR][1000 genomes]
rs57099207	1.00[AMR][1000 genomes]
rs57450977	1.00[AMR][1000 genomes]
rs57753446	1.00[AMR][1000 genomes]
rs57859694	1.00[AMR][1000 genomes]
rs58155673	1.00[AMR][1000 genomes]
rs58567530	0.90[AFR][1000 genomes]
rs58806759	1.00[AMR][1000 genomes]
rs59378421	1.00[AMR][1000 genomes]
rs59721874	1.00[AMR][1000 genomes]
rs59728440	0.90[AFR][1000 genomes]
rs60093932	1.00[AMR][1000 genomes]
rs60387445	1.00[AMR][1000 genomes]
rs60591237	1.00[AMR][1000 genomes]
rs60734072	1.00[AMR][1000 genomes]
rs61080373	1.00[AMR][1000 genomes]
rs61280053	1.00[AMR][1000 genomes]
rs61507438	1.00[AMR][1000 genomes]
rs61639468	1.00[AMR][1000 genomes]
rs73539201	1.00[AMR][1000 genomes]
rs73540804	1.00[AMR][1000 genomes]
rs73540814	1.00[AMR][1000 genomes]
rs73540815	1.00[AMR][1000 genomes]
rs73540818	1.00[AMR][1000 genomes]
rs73540821	1.00[AMR][1000 genomes]
rs73540823	1.00[AMR][1000 genomes]
rs73540824	1.00[AMR][1000 genomes]
rs73540825	1.00[AMR][1000 genomes]
rs73540828	1.00[AMR][1000 genomes]
rs73540848	1.00[AMR][1000 genomes]
rs73540849	1.00[AMR][1000 genomes]
rs73540851	1.00[AMR][1000 genomes]
rs73540857	1.00[AMR][1000 genomes]
rs73540863	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018244	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018246	0.90[AFR][1000 genomes]
rs74018247	0.90[AFR][1000 genomes]
rs74018248	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr16:48138000-48143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:48139200-48151000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:48139800-48142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:48141000-48142800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr16:48141200-48143000	Weak transcription	Fetal Brain Female	brain
6	chr16:48141200-48143200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:48142000-48144000	Enhancers	Fetal Brain Male	brain
8	chr16:48142400-48143200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	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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