Variant report

Variant	rs1388959
Chromosome Location	chr8:113470948-113470949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10086302	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10089402	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10090328	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10094970	0.82[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10097860	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10098195	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10099418	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10107721	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10112911	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1026285	0.82[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1026286	0.84[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1026287	0.82[CEU][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1032406	0.82[CEU][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap]
rs10755908	0.82[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11778069	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12114792	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12115016	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12115151	0.82[CEU][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12676848	0.92[MEX][hapmap];0.81[TSI][hapmap]
rs1388960	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1388961	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1492660	0.82[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1492661	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1492662	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1492665	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1492666	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1552785	0.81[CEU][hapmap]
rs1563064	0.83[LWK][hapmap]
rs1963038	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1993208	0.82[CEU][hapmap]
rs2012465	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2035896	0.82[CEU][hapmap]
rs2123492	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2167776	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2883427	0.82[CEU][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4338134	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56097546	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62516474	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6469416	0.84[AMR][1000 genomes]
rs6469418	0.80[JPT][hapmap]
rs6469420	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6994009	0.92[MEX][hapmap];0.81[TSI][hapmap]
rs6999358	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7463151	0.87[MEX][hapmap]
rs768095	0.82[CEU][hapmap]
rs7818132	0.82[CEU][hapmap]
rs7820539	0.81[YRI][hapmap]
rs7823743	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7824048	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7824210	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7824211	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7832256	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7832422	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7843346	0.82[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7844160	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9297474	0.82[CEU][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap]
rs9649933	0.92[MEX][hapmap];0.81[TSI][hapmap]
rs9886643	0.88[MEX][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2755868	chr8:113282795-113634842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2754232	chr8:113294967-113634842	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113469000-113472600	Enhancers	Fetal Intestine Large	intestine
2	chr8:113469600-113475000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:113469800-113471000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:113470000-113471000	Weak transcription	Fetal Intestine Small	intestine
5	chr8:113470000-113472000	Enhancers	A549	lung
6	chr8:113470000-113475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:113470200-113472000	Weak transcription	Stomach Mucosa	stomach
8	chr8:113470400-113472600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:113470800-113472800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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