Variant report

Variant	rs58419715
Chromosome Location	chr2:48002364-48002365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1800932	0.88[AFR][1000 genomes]
rs1800935	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2159886	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2348243	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3136237	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3136241	0.93[AFR][1000 genomes]
rs3136247	0.93[AFR][1000 genomes]
rs3136249	0.93[AFR][1000 genomes]
rs3136250	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3136262	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3136267	0.80[AMR][1000 genomes]
rs3136269	0.93[AFR][1000 genomes]
rs3136288	0.88[AFR][1000 genomes]
rs3136292	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3136315	0.83[AFR][1000 genomes]
rs57632619	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60444285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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	nsv873999	chr2:47916074-48019485	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription 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	36 gene(s)	inside rSNPs	diseases
4	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47983400-48009600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:47991000-48009600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:47993000-48009400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:47995600-48009000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:47995600-48009400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:47996400-48004400	Weak transcription	K562	blood
7	chr2:47999000-48003000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:47999000-48003600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:47999000-48003600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:47999000-48009400	Weak transcription	HMEC	breast
11	chr2:47999000-48009400	Weak transcription	HUVEC	blood vessel
12	chr2:48001200-48003200	Weak transcription	Ovary	ovary
13	chr2:48002000-48003600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:48002000-48009400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:48002200-48003800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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

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