Variant report

Variant	rs1718961
Chromosome Location	chr7:112442842-112442843
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112442436..112445188-chr7:112575668..112578638,2	K562	blood:
2	chr7:112439935..112445178-chr7:112445414..112449539,5	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10269793	0.81[ASN][1000 genomes]
rs10273589	0.81[ASN][1000 genomes]
rs1227155	0.81[ASN][1000 genomes]
rs1227158	0.81[ASN][1000 genomes]
rs1227159	0.81[ASN][1000 genomes]
rs1227163	0.81[ASN][1000 genomes]
rs1227168	0.81[ASN][1000 genomes]
rs1227172	0.81[ASN][1000 genomes]
rs1227174	0.81[ASN][1000 genomes]
rs1227176	0.81[ASN][1000 genomes]
rs1227190	0.81[ASN][1000 genomes]
rs1238698	0.81[ASN][1000 genomes]
rs12539085	0.84[EUR][1000 genomes]
rs1533851	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1547554	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1718944	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1718948	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1718955	0.81[ASN][1000 genomes]
rs1718957	0.81[ASN][1000 genomes]
rs1718967	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1796491	0.81[ASN][1000 genomes]
rs1796492	0.81[ASN][1000 genomes]
rs1796493	0.81[ASN][1000 genomes]
rs1796512	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796516	0.81[ASN][1000 genomes]
rs1996843	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2396573	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2396574	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2457	0.81[ASN][1000 genomes]
rs2687267	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2708295	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708296	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3997335	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3997336	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs494324	0.87[EUR][1000 genomes]
rs548994	0.89[EUR][1000 genomes]
rs549688	0.89[EUR][1000 genomes]
rs552304	0.86[EUR][1000 genomes]
rs564494	0.92[EUR][1000 genomes]
rs565641	0.88[EUR][1000 genomes]
rs58858661	0.82[EUR][1000 genomes]
rs62472532	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466421	0.81[ASN][1000 genomes]
rs672911	0.87[EUR][1000 genomes]
rs685259	0.92[EUR][1000 genomes]
rs6948575	0.87[EUR][1000 genomes]
rs6948876	0.81[ASN][1000 genomes]
rs6953522	0.85[EUR][1000 genomes]
rs6955834	0.81[ASN][1000 genomes]
rs6967716	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7785774	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7789772	0.81[ASN][1000 genomes]
rs7803405	0.81[ASN][1000 genomes]
rs821782	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs821783	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs821785	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs821787	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9969347	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv967494	chr7:112430613-112445931	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv1031405	chr7:112431403-112476756	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv429801	chr7:112434049-112477049	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2752145	chr7:112434049-112500049	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1023222	chr7:112434413-112476756	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv1034863	chr7:112434413-112504160	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112441000-112443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:112442600-112443000	Weak transcription	Fetal Stomach	stomach
3	chr7:112442800-112472800	Weak transcription	Lung	lung

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