Variant report

Variant	rs2253336
Chromosome Location	chr8:105393687-105393688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2246827	0.82[CHB][hapmap]
rs2669419	0.82[CHB][hapmap]
rs2669432	0.82[CHB][hapmap]
rs2853150	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs2853151	0.94[CHB][hapmap];0.85[CHD][hapmap]
rs2853156	0.94[CHB][hapmap]
rs2853157	0.94[CHB][hapmap]
rs2853164	0.82[CHB][hapmap]
rs2853169	0.82[CHB][hapmap]
rs2853170	0.82[CHB][hapmap]
rs3793356	0.94[CHB][hapmap]
rs4734106	0.82[CHB][hapmap]

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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105388800-105394400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:105390400-105421000	Strong transcription	Liver	Liver
3	chr8:105392600-105394200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:105393000-105394000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:105393400-105395600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:105393600-105394400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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