Variant report

Variant	rs56252219
Chromosome Location	chr2:190154357-190154358
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10497699	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931402	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931406	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931410	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11675295	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11676812	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11677073	0.94[ASN][1000 genomes]
rs11678388	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11681937	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684417	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684869	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11687908	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11690774	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11693810	0.94[ASN][1000 genomes]
rs11695837	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12472232	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1402369	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1515875	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1519185	0.94[ASN][1000 genomes]
rs1520862	0.94[ASN][1000 genomes]
rs17198773	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17198780	0.85[ASN][1000 genomes]
rs17198787	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17198815	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17198829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17270966	0.85[ASN][1000 genomes]
rs17270973	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17270987	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17271008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271015	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1996576	0.94[ASN][1000 genomes]
rs2683013	0.94[ASN][1000 genomes]
rs2683014	0.94[ASN][1000 genomes]
rs28413975	0.87[ASN][1000 genomes]
rs35598715	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55851872	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56381644	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58584769	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58926658	0.82[EUR][1000 genomes]
rs59031473	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61130121	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61528955	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182060	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182061	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182066	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182068	0.94[ASN][1000 genomes]
rs62182069	0.94[ASN][1000 genomes]
rs62182415	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182421	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182454	0.83[ASN][1000 genomes]
rs62182457	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62182458	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62182459	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183794	0.94[ASN][1000 genomes]
rs62183841	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183844	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183846	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183847	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62183848	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62184647	0.81[EUR][1000 genomes]
rs62184648	0.81[EUR][1000 genomes]
rs62184649	0.80[EUR][1000 genomes]
rs62184652	0.81[EUR][1000 genomes]
rs62184653	0.81[EUR][1000 genomes]
rs62187072	0.81[EUR][1000 genomes]
rs6721290	0.81[EUR][1000 genomes]
rs6747132	0.81[EUR][1000 genomes]
rs72908368	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72908382	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72910347	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72910360	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72912280	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72912286	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72914135	0.88[ASN][1000 genomes]
rs72914141	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72914144	0.81[ASN][1000 genomes]
rs72914175	0.81[EUR][1000 genomes]
rs7564429	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7586853	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190150800-190158200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:190152400-190162400	Weak transcription	HMEC	breast
3	chr2:190153200-190154400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:190153600-190154600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:190153600-190162800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:190153800-190162800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:190154000-190158200	Weak transcription	Osteobl	bone

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