Variant report

Variant	rs73998957
Chromosome Location	chr2:234827234-234827235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11563221	0.81[AFR][1000 genomes]
rs2215171	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28901586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28901590	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28901597	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234826200-234830000	Weak transcription	Brain Germinal Matrix	brain
2	chr2:234826400-234827600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:234826600-234827600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:234827200-234827400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:234827200-234827600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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