Variant report

Variant	rs4815133
Chromosome Location	chr20:22641963-22641964
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2145058	0.81[EUR][1000 genomes]
rs2424445	0.82[EUR][1000 genomes]
rs2424446	0.81[EUR][1000 genomes]
rs2424447	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2424448	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2424450	0.82[EUR][1000 genomes]
rs2424451	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4815131	0.81[EUR][1000 genomes]
rs4815132	0.82[EUR][1000 genomes]
rs6082767	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs975525	0.81[EUR][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	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064571	chr20:22601105-22645251	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22634000-22643400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:22634400-22643800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr20:22636200-22643400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:22639600-22643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr20:22640200-22643400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr20:22640400-22643200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr20:22640600-22643400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr20:22641200-22643200	Weak transcription	iPS-15b 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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