Variant report

Variant	rs2514653
Chromosome Location	chr8:105329096-105329097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2441873	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441895	0.81[ASN][1000 genomes]
rs2441896	0.95[AFR][1000 genomes]
rs2458419	0.85[CEU][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2458422	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2458423	0.86[EUR][1000 genomes]
rs2458427	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2511580	0.88[JPT][hapmap]
rs2514631	1.00[ASW][hapmap];0.80[CHD][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap]
rs2514640	0.87[AFR][1000 genomes]
rs2514645	0.87[AFR][1000 genomes]
rs2514657	0.90[EUR][1000 genomes]
rs2514658	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3039743	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4260866	0.86[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105327800-105330600	Enhancers	Stomach Smooth Muscle	stomach
2	chr8:105328000-105329400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:105328600-105329400	Enhancers	Fetal Stomach	stomach
4	chr8:105328600-105330000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:105328600-105331000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:105328800-105329400	Enhancers	Colon Smooth Muscle	Colon
7	chr8:105328800-105329400	Enhancers	Rectal Smooth Muscle	rectum
8	chr8:105328800-105337800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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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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