Variant report

Variant	rs12078453
Chromosome Location	chr1:103722420-103722421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10437032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10493994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164735	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164736	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164737	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164738	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164739	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058864	1.00[EUR][1000 genomes]
rs12059823	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060328	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062539	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12082997	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085205	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12098060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12098103	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240156	1.00[AMR][1000 genomes]
rs13374130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1528207	1.00[EUR][1000 genomes]
rs1609258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127638	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127667	1.00[EUR][1000 genomes]
rs28469637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28630865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55687112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56086106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56219021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56914812	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57781890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58011743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58942206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58952834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58982700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59799567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61543247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61595551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61699583	1.00[EUR][1000 genomes]
rs61708772	1.00[AMR][1000 genomes]
rs6697449	1.00[EUR][1000 genomes]
rs72993115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993177	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993190	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993197	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993201	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993202	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995206	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995209	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995238	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74108610	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74108618	0.83[AFR][1000 genomes]
rs74110906	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74110911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74110912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74110913	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74111525	1.00[AMR][1000 genomes];1.00[EUR][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	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv432554	chr1:103673437-104128773	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103719800-103722600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:103720000-103722600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:103721000-103722800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:103721400-103722600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:103721800-103722600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:103721800-103722600	Enhancers	Osteobl	bone
7	chr1:103722000-103725000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:103722000-103730800	Weak transcription	NH-A	brain
9	chr1:103722400-103722600	Enhancers	Adipose Nuclei	Adipose

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