Variant report

Variant	rs72680445
Chromosome Location	chr4:121780415-121780416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10006287	0.87[ASN][1000 genomes]
rs1015219	0.88[ASN][1000 genomes]
rs10518380	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11943025	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12499872	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12501914	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507367	0.82[AMR][1000 genomes]
rs12510578	0.90[ASN][1000 genomes]
rs12511422	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12639719	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12639772	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12640648	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12644850	0.86[ASN][1000 genomes]
rs12644883	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12648660	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1397771	0.87[ASN][1000 genomes]
rs1450461	0.91[ASN][1000 genomes]
rs1470695	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1511302	0.85[ASN][1000 genomes]
rs1588524	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1597491	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs168226	0.91[ASN][1000 genomes]
rs17051252	0.85[ASN][1000 genomes]
rs17051254	0.85[ASN][1000 genomes]
rs17051259	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17051271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051275	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs171068	0.91[ASN][1000 genomes]
rs1809075	0.91[ASN][1000 genomes]
rs2167208	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2667171	0.91[ASN][1000 genomes]
rs28488919	0.87[ASN][1000 genomes]
rs28810489	0.87[ASN][1000 genomes]
rs343182	0.88[ASN][1000 genomes]
rs343185	0.91[ASN][1000 genomes]
rs343189	0.91[ASN][1000 genomes]
rs3806807	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3827584	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4833688	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57023921	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72678319	0.85[ASN][1000 genomes]
rs72678324	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72678335	0.87[ASN][1000 genomes]
rs72680418	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72680432	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680440	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680451	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680462	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680468	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680474	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680476	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680477	0.90[ASN][1000 genomes]
rs72680480	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680484	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680490	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680497	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72680498	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs896060	0.91[ASN][1000 genomes]
rs994831	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121761200-121783600	Weak transcription	Pancreas	Pancrea
2	chr4:121765800-121786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:121766000-121786600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:121766200-121790800	Weak transcription	Ovary	ovary
5	chr4:121771400-121781200	Weak transcription	HSMM	muscle
6	chr4:121771600-121783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:121771800-121786800	Weak transcription	Fetal Lung	lung
8	chr4:121775200-121790800	Weak transcription	Fetal Kidney	kidney
9	chr4:121777000-121783600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:121779200-121780600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:121779400-121780600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:121779600-121780600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:121779800-121786400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:121780000-121780600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:121780000-121786600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:121780200-121786800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:121780200-121790600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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