Variant report

Variant	rs4688697
Chromosome Location	chr3:50955012-50955013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12485524	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12486828	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12487821	0.91[ASN][1000 genomes]
rs12488831	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12488948	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12490502	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12490519	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12491206	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12491402	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12492367	0.91[ASN][1000 genomes]
rs12492850	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493359	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12494214	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12494708	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12494776	0.91[ASN][1000 genomes]
rs12495399	0.83[ASN][1000 genomes]
rs12496601	0.89[ASN][1000 genomes]
rs12496621	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12497067	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17051468	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2125368	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2262847	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2355707	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4073739	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4078296	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323036	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4688695	0.89[ASN][1000 genomes]
rs4688696	0.89[ASN][1000 genomes]
rs4688752	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56844171	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58356214	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58704403	0.83[AFR][1000 genomes]
rs58720544	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60184902	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60552386	0.85[ASN][1000 genomes]
rs60602904	0.92[ASN][1000 genomes]
rs60882641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60917457	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61557316	0.82[ASN][1000 genomes]
rs61627377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61676409	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446239	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72937251	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72937253	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72937262	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72937265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72937269	0.83[AFR][1000 genomes]
rs72937299	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72937300	0.83[AFR][1000 genomes]
rs72939205	0.83[AFR][1000 genomes]
rs72939228	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72942530	0.88[ASN][1000 genomes]
rs72942567	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72943130	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72943137	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7372342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7427526	0.98[ASN][1000 genomes]
rs7427615	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1004881	chr3:50900793-51032918	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536568	chr3:50900793-51032918	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1008585	chr3:50936180-50955418	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv3334402	chr3:50941380-50956775	Genic enhancers Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3492813	chr3:50943030-50957425	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3492814	chr3:50943030-50957425	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
8	esv20176	chr3:50945260-50955050	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50950400-50959200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:50951200-50959400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:50951400-50964000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:50953800-50959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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