Variant report

Variant	rs61820789
Chromosome Location	chr1:196992063-196992064
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10484502	0.89[ASN][1000 genomes]
rs10737685	0.89[ASN][1000 genomes]
rs10754209	0.84[ASN][1000 genomes]
rs1170879	0.89[ASN][1000 genomes]
rs12755054	0.81[ASN][1000 genomes]
rs1332661	0.81[ASN][1000 genomes]
rs1332667	0.91[ASN][1000 genomes]
rs1412635	0.83[ASN][1000 genomes]
rs1611982	0.83[ASN][1000 genomes]
rs1615413	0.81[ASN][1000 genomes]
rs1750311	0.82[ASN][1000 genomes]
rs17514309	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17514324	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17549312	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17549360	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17549430	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17550014	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17550411	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1759016	0.82[ASN][1000 genomes]
rs17662710	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1794011	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2225565	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298882	0.81[ASN][1000 genomes]
rs2336596	0.91[ASN][1000 genomes]
rs2878749	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3737110	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3748557	0.90[ASN][1000 genomes]
rs3762271	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41304071	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41308365	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41310911	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41310925	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41310927	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs45445493	0.98[ASN][1000 genomes]
rs45489701	0.90[ASN][1000 genomes]
rs56084994	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59745661	0.84[ASN][1000 genomes]
rs5990	0.89[ASN][1000 genomes]
rs5996	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998	0.89[ASN][1000 genomes]
rs60002789	0.90[ASN][1000 genomes]
rs61819074	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61819087	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61819088	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61819089	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61820800	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6690730	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6702252	0.89[ASN][1000 genomes]
rs698859	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72468006	0.90[ASN][1000 genomes]
rs72736469	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72736474	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7517428	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7518773	0.84[ASN][1000 genomes]
rs7535993	0.89[ASN][1000 genomes]
rs7541682	0.84[ASN][1000 genomes]
rs857018	0.84[ASN][1000 genomes]
rs857024	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs857025	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9427664	0.86[ASN][1000 genomes]
rs955927	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2756880	chr1:196709223-197066074	ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2750822	chr1:196731148-196993973	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv430124	chr1:196731148-196993973	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv34978	chr1:196733133-197011577	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv430158	chr1:196733133-197011577	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv430180	chr1:196739837-197007479	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1003573	chr1:196825211-197005106	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196991800-196992200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:196992000-196992200	Enhancers	H9 Cell Line	embryonic stem cell

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