Variant report

Variant	rs10493994
Chromosome Location	chr1:103666579-103666580
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:76)

rs_ID	r²[population]
rs10437032	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164724	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164725	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164733	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164739	1.00[EUR][1000 genomes]
rs11164751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058864	1.00[EUR][1000 genomes]
rs12059823	1.00[AMR][1000 genomes]
rs12059958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061317	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068683	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072971	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074606	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12082997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12098060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12098103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239554	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240156	1.00[AMR][1000 genomes]
rs13374130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1528207	1.00[EUR][1000 genomes]
rs1609258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127667	1.00[EUR][1000 genomes]
rs28469637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28630865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55687112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56086106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56219021	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56914812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57781890	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58011743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58942206	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58952834	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58982700	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59799567	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61543247	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61595551	0.99[AFR][1000 genomes];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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993118	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993197	1.00[AMR][1000 genomes]
rs72993201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74108610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74110906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74110911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74110912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74110913	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: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	esv2830089	chr1:103615938-103670474	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv526337	chr1:103636607-103704266	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103660800-103672600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:103666000-103666800	Enhancers	HSMM	muscle

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