Variant report

Variant	rs72993197
Chromosome Location	chr1:103684589-103684590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10437032	1.00[AMR][1000 genomes]
rs10493994	1.00[AMR][1000 genomes]
rs11164724	1.00[AMR][1000 genomes]
rs11164725	1.00[AMR][1000 genomes]
rs11164730	1.00[AMR][1000 genomes]
rs11164731	1.00[AMR][1000 genomes]
rs11164733	1.00[AMR][1000 genomes]
rs11164735	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164736	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164737	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164738	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164739	0.98[AFR][1000 genomes]
rs11164751	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164752	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12058864	0.84[AFR][1000 genomes]
rs12059823	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059958	1.00[AMR][1000 genomes]
rs12060328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060714	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061112	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061317	1.00[AMR][1000 genomes]
rs12062539	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062593	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12068683	1.00[AMR][1000 genomes]
rs12072826	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072971	1.00[AMR][1000 genomes]
rs12074606	1.00[AMR][1000 genomes]
rs12077747	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078453	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085205	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12098060	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12098103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239554	1.00[AMR][1000 genomes]
rs12240156	1.00[AMR][1000 genomes]
rs13374130	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1609258	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17127638	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17127642	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17127659	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28469637	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28630865	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55687112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56086106	1.00[AMR][1000 genomes]
rs56219021	1.00[AMR][1000 genomes]
rs56914812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57781890	1.00[AMR][1000 genomes]
rs58011743	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58942206	1.00[AMR][1000 genomes]
rs58952834	1.00[AMR][1000 genomes]
rs58982700	1.00[AMR][1000 genomes]
rs59799567	1.00[AMR][1000 genomes]
rs61543247	1.00[AMR][1000 genomes]
rs61595551	1.00[AMR][1000 genomes]
rs61708772	1.00[AMR][1000 genomes]
rs72993115	1.00[AMR][1000 genomes]
rs72993118	1.00[AMR][1000 genomes]
rs72993177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995206	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995238	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108618	0.94[AFR][1000 genomes]
rs74110906	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74110911	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74110912	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74110913	1.00[AMR][1000 genomes]
rs74111525	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv526337	chr1:103636607-103704266	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103676800-103686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:103683600-103685200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103683800-103687200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:103684200-103686000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:103684400-103684600	Enhancers	NH-A	brain
6	chr1:103684400-103685200	Weak transcription	HSMM	muscle

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