Variant report

Variant	rs2680629
Chromosome Location	chr2:190200665-190200666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10174225	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177513	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677073	0.83[ASN][1000 genomes]
rs11681937	0.83[ASN][1000 genomes]
rs11684417	0.83[ASN][1000 genomes]
rs11693810	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13406671	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1464136	0.88[EUR][1000 genomes]
rs1515873	0.83[ASN][1000 genomes]
rs1519182	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1519185	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1520862	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17198780	0.81[ASN][1000 genomes]
rs17270952	0.86[ASN][1000 genomes]
rs17270966	0.81[ASN][1000 genomes]
rs17271015	0.83[ASN][1000 genomes]
rs1996576	0.83[ASN][1000 genomes]
rs2683013	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2683014	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2683015	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683016	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55726777	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61528955	0.83[ASN][1000 genomes]
rs62182060	0.83[ASN][1000 genomes]
rs62182061	0.83[ASN][1000 genomes]
rs62182066	0.83[ASN][1000 genomes]
rs62182067	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182068	0.83[ASN][1000 genomes]
rs62182069	0.83[ASN][1000 genomes]
rs62182420	0.81[ASN][1000 genomes]
rs62183846	0.83[ASN][1000 genomes]
rs62183848	0.83[ASN][1000 genomes]
rs72912280	0.83[ASN][1000 genomes]
rs72912286	0.83[ASN][1000 genomes]
rs72914141	0.83[ASN][1000 genomes]
rs7564429	0.83[ASN][1000 genomes]
rs7577872	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9808245	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:190193800-190202800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:190196400-190204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:190200600-190203200	Enhancers	Muscle Satellite Cultured Cells	--

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