Variant report

Variant	rs72649954
Chromosome Location	chr1:210303218-210303219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1040424	0.87[EUR][1000 genomes]
rs1040426	0.87[EUR][1000 genomes]
rs10489346	0.87[EUR][1000 genomes]
rs10779521	0.87[EUR][1000 genomes]
rs10863800	0.87[EUR][1000 genomes]
rs10863809	0.87[EUR][1000 genomes]
rs11119373	0.87[EUR][1000 genomes]
rs11119384	0.87[EUR][1000 genomes]
rs11119388	0.87[EUR][1000 genomes]
rs11119394	0.87[EUR][1000 genomes]
rs11119398	0.87[EUR][1000 genomes]
rs11119403	0.87[EUR][1000 genomes]
rs11119417	0.87[EUR][1000 genomes]
rs12059828	0.87[EUR][1000 genomes]
rs12061641	0.87[EUR][1000 genomes]
rs12073617	0.87[EUR][1000 genomes]
rs12078802	0.87[EUR][1000 genomes]
rs12079916	0.87[EUR][1000 genomes]
rs12084199	0.87[EUR][1000 genomes]
rs12088422	0.87[EUR][1000 genomes]
rs12089327	0.87[EUR][1000 genomes]
rs12092527	0.87[EUR][1000 genomes]
rs12094626	0.87[EUR][1000 genomes]
rs12354000	0.87[EUR][1000 genomes]
rs12405519	0.87[EUR][1000 genomes]
rs12405601	0.87[EUR][1000 genomes]
rs12409047	0.87[EUR][1000 genomes]
rs12561877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12562421	1.00[AMR][1000 genomes]
rs12565072	0.87[EUR][1000 genomes]
rs12565234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12565533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12566105	0.87[EUR][1000 genomes]
rs12567184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12567185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12569195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1387932	0.87[EUR][1000 genomes]
rs17015564	0.87[EUR][1000 genomes]
rs17015565	0.87[EUR][1000 genomes]
rs17015566	0.87[EUR][1000 genomes]
rs17015667	0.87[EUR][1000 genomes]
rs4144930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4844501	0.87[EUR][1000 genomes]
rs4844502	0.87[EUR][1000 genomes]
rs4844509	0.87[EUR][1000 genomes]
rs4844916	0.87[EUR][1000 genomes]
rs4844923	0.87[EUR][1000 genomes]
rs4844935	0.87[EUR][1000 genomes]
rs4844937	0.87[EUR][1000 genomes]
rs4844938	0.87[EUR][1000 genomes]
rs4844939	0.87[EUR][1000 genomes]
rs4844940	0.87[EUR][1000 genomes]
rs4844941	0.87[EUR][1000 genomes]
rs4844942	0.87[EUR][1000 genomes]
rs4844943	0.87[EUR][1000 genomes]
rs4844944	0.87[EUR][1000 genomes]
rs4844955	0.87[EUR][1000 genomes]
rs713114	0.87[EUR][1000 genomes]
rs72649911	1.00[EUR][1000 genomes]
rs72649912	0.87[EUR][1000 genomes]
rs72649913	0.87[EUR][1000 genomes]
rs72649914	0.87[EUR][1000 genomes]
rs72649920	0.87[EUR][1000 genomes]
rs72649921	0.87[EUR][1000 genomes]
rs72649922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72649923	0.87[EUR][1000 genomes]
rs72649924	0.87[EUR][1000 genomes]
rs72649925	0.87[EUR][1000 genomes]
rs72649926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72649927	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72649928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72649931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72649932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72649933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72649934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72649935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72649936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72649937	0.87[EUR][1000 genomes]
rs72649938	0.87[EUR][1000 genomes]
rs72649939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72649940	0.87[EUR][1000 genomes]
rs72649941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72649942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72649943	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72649944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72649945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72649946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72649947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72649948	0.87[EUR][1000 genomes]
rs72649949	0.87[EUR][1000 genomes]
rs72649950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72649951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72649953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649955	0.87[EUR][1000 genomes]
rs72649956	0.87[EUR][1000 genomes]
rs72649958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72649959	0.87[EUR][1000 genomes]
rs72649960	0.87[EUR][1000 genomes]
rs72649961	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72649963	1.00[AMR][1000 genomes]
rs72649965	1.00[AMR][1000 genomes]
rs72649970	1.00[AMR][1000 genomes]
rs72649971	1.00[AMR][1000 genomes]
rs72649972	1.00[AMR][1000 genomes]
rs72649974	1.00[AMR][1000 genomes]
rs760768	0.87[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873144	chr1:210252522-210347417	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv818800	chr1:210258653-210304319	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv873145	chr1:210302595-210347417	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210298400-210318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210299600-210305800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:210302000-210303400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:210303200-210305200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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