Variant report

Variant	rs72649950
Chromosome Location	chr1:210250324-210250325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

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];0.98[ASN][1000 genomes]
rs12562421	1.00[AMR][1000 genomes]
rs12563982	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12565072	0.87[EUR][1000 genomes]
rs12565234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12565533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12566105	0.87[EUR][1000 genomes]
rs12566616	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12567184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12567185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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]
rs35163211	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4144930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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]
rs72468062	1.00[AMR][1000 genomes];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];0.86[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];0.86[ASN][1000 genomes]
rs72649927	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72649929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72649930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72649931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72649932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72649933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72649934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72649935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72649936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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];0.98[ASN][1000 genomes]
rs72649940	0.87[EUR][1000 genomes]
rs72649941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72649942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72649943	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72649944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72649945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72649946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72649947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72649948	0.87[EUR][1000 genomes]
rs72649949	0.87[EUR][1000 genomes]
rs72649951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72649953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72649954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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];0.81[ASN][1000 genomes]
rs72649959	0.87[EUR][1000 genomes]
rs72649960	0.87[EUR][1000 genomes]
rs72649961	1.00[AMR][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:6 , 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	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv873141	chr1:210228131-210296910	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv873142	chr1:210233610-210291121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv873143	chr1:210233610-210296910	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210247600-210253800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:210248400-210250600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:210248600-210250600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:210248600-210250600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:210248600-210251600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:210248600-210261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:210248600-210273200	Weak transcription	Fetal Brain Female	brain
8	chr1:210250000-210250400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:210250000-210250800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:210250000-210251400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:210250200-210250600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr1:210250200-210250600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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