Variant report

Variant	rs61348502
Chromosome Location	chr5:128150704-128150705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12653731	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12657219	0.92[AMR][1000 genomes]
rs2108972	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2871598	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58038005	0.98[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs719570	0.94[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72663365	0.94[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	nsv1023405	chr5:127955360-128190069	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3392548	chr5:128139102-128159002	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 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	chr5:128143600-128151000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:128150200-128151400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:128150400-128151000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:128150600-128151000	Weak transcription	Fetal Lung	lung
5	chr5:128150600-128151400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:128150600-128151600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:128150600-128151600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:128150600-128151600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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