Variant report

Variant	rs11693810
Chromosome Location	chr2:190222386-190222387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10174225	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10177513	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10497699	0.90[ASN][1000 genomes]
rs10931402	0.87[ASN][1000 genomes]
rs10931406	0.87[ASN][1000 genomes]
rs10931410	0.87[ASN][1000 genomes]
rs11675295	0.87[ASN][1000 genomes]
rs11676812	0.82[ASN][1000 genomes]
rs11677073	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678388	0.90[ASN][1000 genomes]
rs11681937	1.00[ASN][1000 genomes]
rs11684417	1.00[ASN][1000 genomes]
rs11684869	0.87[ASN][1000 genomes]
rs11687908	0.87[ASN][1000 genomes]
rs12472232	0.93[ASN][1000 genomes]
rs13406671	0.80[EUR][1000 genomes]
rs1515873	0.82[ASN][1000 genomes]
rs1515875	0.90[ASN][1000 genomes]
rs1519185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198773	0.87[ASN][1000 genomes]
rs17198787	0.85[ASN][1000 genomes]
rs17198815	0.87[ASN][1000 genomes]
rs17198829	0.87[ASN][1000 genomes]
rs17270952	0.85[ASN][1000 genomes]
rs17270973	0.90[ASN][1000 genomes]
rs17270987	0.85[ASN][1000 genomes]
rs17271008	0.94[ASN][1000 genomes]
rs17271015	1.00[ASN][1000 genomes]
rs1996576	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680629	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2683013	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683014	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683015	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2683016	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28413975	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35598715	0.87[ASN][1000 genomes]
rs55851872	0.85[ASN][1000 genomes]
rs56252219	0.94[ASN][1000 genomes]
rs56381644	0.93[ASN][1000 genomes]
rs59031473	0.87[ASN][1000 genomes]
rs61130121	0.93[ASN][1000 genomes]
rs61410845	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61528955	1.00[ASN][1000 genomes]
rs62182060	1.00[ASN][1000 genomes]
rs62182061	1.00[ASN][1000 genomes]
rs62182066	1.00[ASN][1000 genomes]
rs62182067	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62182068	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182069	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182070	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62182415	0.87[ASN][1000 genomes]
rs62182421	0.87[ASN][1000 genomes]
rs62182457	0.85[ASN][1000 genomes]
rs62182458	0.82[ASN][1000 genomes]
rs62183794	0.87[ASN][1000 genomes]
rs62183841	0.87[ASN][1000 genomes]
rs62183844	0.87[ASN][1000 genomes]
rs62183845	0.87[ASN][1000 genomes]
rs62183846	1.00[ASN][1000 genomes]
rs62183847	0.91[ASN][1000 genomes]
rs62183848	1.00[ASN][1000 genomes]
rs72908368	0.93[ASN][1000 genomes]
rs72908382	0.93[ASN][1000 genomes]
rs72910347	0.85[ASN][1000 genomes]
rs72912280	1.00[ASN][1000 genomes]
rs72912286	1.00[ASN][1000 genomes]
rs72914135	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72914141	1.00[ASN][1000 genomes]
rs72914144	0.87[ASN][1000 genomes]
rs7564429	1.00[ASN][1000 genomes]
rs7586853	0.93[ASN][1000 genomes]
rs9808245	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking 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	21 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	chr2:190215800-190228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:190216400-190225400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:190221800-190222800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:190221800-190222800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:190222000-190222800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:190222000-190227800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:190222200-190222800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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