Variant report

Variant	rs72911204
Chromosome Location	chr1:57937797-57937798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10493224	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115785	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17115788	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17115791	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17115796	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17115804	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17115807	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17115825	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17115827	0.85[ASN][1000 genomes]
rs17115830	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17115832	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17115833	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17115846	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17115851	0.93[ASN][1000 genomes]
rs17115853	0.93[ASN][1000 genomes]
rs17115854	0.93[ASN][1000 genomes]
rs2691450	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56252125	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59914221	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72909294	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909300	0.82[AFR][1000 genomes]
rs74074723	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74074724	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74074728	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74074729	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74074730	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74074732	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74074734	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74074736	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74074743	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57932800-57942400	Weak transcription	Stomach Mucosa	stomach
2	chr1:57935200-57938600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57935800-57938800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:57936400-57938800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:57936400-57939000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:57936400-57939600	Weak transcription	NH-A	brain
7	chr1:57936400-57940000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:57936600-57939200	Weak transcription	NHLF	lung
9	chr1:57936600-57939600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:57936800-57939800	Weak transcription	Hela-S3	cervix
11	chr1:57937000-57938600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:57937000-57938600	Weak transcription	NHDF-Ad	bronchial
13	chr1:57937000-57938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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