Variant report

Variant	rs2853148
Chromosome Location	chr8:105389678-105389679
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12543989	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1355692	0.83[ASN][1000 genomes]
rs2458428	0.88[ASN][1000 genomes]
rs2458429	0.87[ASN][1000 genomes]
rs2514674	0.88[ASN][1000 genomes]
rs2514675	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2669440	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2853134	0.84[ASN][1000 genomes]
rs2853135	0.84[ASN][1000 genomes]
rs2853136	0.84[ASN][1000 genomes]
rs2853138	0.88[ASN][1000 genomes]
rs2853139	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2853140	0.88[ASN][1000 genomes]
rs2853142	0.88[ASN][1000 genomes]
rs2853144	0.86[ASN][1000 genomes]
rs2853149	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4734787	0.86[ASN][1000 genomes]
rs4734788	0.88[ASN][1000 genomes]
rs4734789	0.88[ASN][1000 genomes]
rs4734790	0.88[ASN][1000 genomes]
rs4734791	0.88[ASN][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1032775	chr8:105311364-105409972	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 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	chr8:105381800-105393400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:105388200-105390400	Weak transcription	Liver	Liver
3	chr8:105388800-105394400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:105389000-105392800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:105389400-105390600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:105389400-105390600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:105389400-105390800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:105389400-105390800	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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