Variant report

Variant	rs685649
Chromosome Location	chr13:38902273-38902274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1330959	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2455409	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs2455411	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2481878	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2481881	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2481882	1.00[AMR][1000 genomes]
rs2481883	1.00[AMR][1000 genomes]
rs2485772	1.00[AMR][1000 genomes]
rs2485776	1.00[AMR][1000 genomes]
rs2485781	1.00[AMR][1000 genomes]
rs2485784	1.00[AMR][1000 genomes]
rs2485787	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2496460	1.00[AMR][1000 genomes]
rs2496467	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2496469	1.00[AMR][1000 genomes]
rs2496472	1.00[AMR][1000 genomes]
rs2496474	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs59701754	1.00[AMR][1000 genomes]
rs672502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466319	1.00[AMR][1000 genomes]
rs74047556	1.00[AMR][1000 genomes]
rs7991512	1.00[AMR][1000 genomes]
rs9594272	1.00[AMR][1000 genomes]
rs9594277	1.00[AMR][1000 genomes]
rs9603377	1.00[AMR][1000 genomes]
rs9603379	1.00[AMR][1000 genomes]

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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv561512	chr13:38881318-38930893	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv900005	chr13:38881318-38932949	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38901600-38902600	Active TSS	HMEC	breast
2	chr13:38901600-38902800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:38902200-38902400	Bivalent Enhancer	A549	lung

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