Variant report

Variant	rs2691450
Chromosome Location	chr1:57940304-57940305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10493224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115785	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17115788	0.83[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17115791	0.84[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17115796	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17115804	0.92[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17115807	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17115825	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17115827	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs17115830	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17115832	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17115833	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17115846	0.92[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs17115851	0.92[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs17115853	0.92[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs17115854	0.92[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs17426569	0.83[CHB][hapmap]
rs17426688	0.83[CHB][hapmap]
rs2245012	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2691463	1.00[CEU][hapmap]
rs2691465	1.00[CEU][hapmap]
rs2793648	1.00[CEU][hapmap]
rs2805873	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56252125	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59914221	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72909294	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911204	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074723	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74074724	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74074728	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74074729	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74074730	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74074732	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74074734	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74074736	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74074743	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9436131	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr1:57932800-57942400	Weak transcription	Stomach Mucosa	stomach
2	chr1:57938600-57940800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:57938800-57940800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:57939400-57942400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:57939600-57940400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:57939600-57940400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:57939600-57940400	Enhancers	NH-A	brain
8	chr1:57940200-57949600	Weak transcription	NHDF-Ad	bronchial

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