Variant report

Variant	rs72706469
Chromosome Location	chr1:146621462-146621463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:146554415..146555938-chr1:146620664..146623455,2	K562	blood:

Variant related genes	Relation type
ENSG00000230832	Chromatin interaction

Extended variants
information (count: 193 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs10494242	1.00[EUR][1000 genomes]
rs10494243	1.00[EUR][1000 genomes]
rs17159869	0.83[AMR][1000 genomes]
rs17159878	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159880	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159883	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159909	0.83[AMR][1000 genomes]
rs17160790	0.83[AMR][1000 genomes]
rs17355733	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355740	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355768	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355789	0.96[EUR][1000 genomes]
rs17355796	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355817	1.00[EUR][1000 genomes]
rs17355844	1.00[EUR][1000 genomes]
rs17355858	0.96[EUR][1000 genomes]
rs17355899	1.00[EUR][1000 genomes]
rs17355913	1.00[EUR][1000 genomes]
rs17355927	1.00[EUR][1000 genomes]
rs17355962	0.92[EUR][1000 genomes]
rs17355969	0.92[EUR][1000 genomes]
rs17356024	0.92[EUR][1000 genomes]
rs17356031	0.92[EUR][1000 genomes]
rs17359851	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359865	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359879	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17360003	1.00[EUR][1000 genomes]
rs17360031	1.00[EUR][1000 genomes]
rs17360059	1.00[EUR][1000 genomes]
rs17360066	1.00[EUR][1000 genomes]
rs28381176	0.92[EUR][1000 genomes]
rs28381180	0.85[EUR][1000 genomes]
rs28381181	0.93[EUR][1000 genomes]
rs28381183	1.00[EUR][1000 genomes]
rs28381188	1.00[EUR][1000 genomes]
rs28381190	1.00[EUR][1000 genomes]
rs28381192	0.86[EUR][1000 genomes]
rs28381193	0.89[EUR][1000 genomes]
rs28381194	1.00[EUR][1000 genomes]
rs28381195	1.00[EUR][1000 genomes]
rs28381200	1.00[EUR][1000 genomes]
rs28381203	1.00[EUR][1000 genomes]
rs28381204	1.00[EUR][1000 genomes]
rs28381205	1.00[EUR][1000 genomes]
rs28381206	1.00[EUR][1000 genomes]
rs28381209	1.00[EUR][1000 genomes]
rs28381225	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381230	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34838459	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41295821	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41312712	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41480846	1.00[EUR][1000 genomes]
rs55653839	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55701100	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55705039	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55710129	1.00[EUR][1000 genomes]
rs55797044	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55888723	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56004039	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56017341	1.00[EUR][1000 genomes]
rs56047816	1.00[EUR][1000 genomes]
rs56053798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56074784	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56079929	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56163155	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56175228	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56182581	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56400874	1.00[EUR][1000 genomes]
rs56410162	1.00[EUR][1000 genomes]
rs56743621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56833520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57211600	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57247303	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57570045	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58423612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58785568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59665085	1.00[EUR][1000 genomes]
rs60280517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60603428	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61374973	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61549987	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62623392	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62623395	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6658465	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6659191	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6660848	1.00[EUR][1000 genomes]
rs6663107	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665580	1.00[EUR][1000 genomes]
rs6665934	1.00[EUR][1000 genomes]
rs6668865	1.00[EUR][1000 genomes]
rs6674519	1.00[EUR][1000 genomes]
rs6674643	1.00[EUR][1000 genomes]
rs6678588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6679406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681389	1.00[EUR][1000 genomes]
rs6684454	1.00[EUR][1000 genomes]
rs6690541	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72691021	0.92[EUR][1000 genomes]
rs72691048	0.92[EUR][1000 genomes]
rs72692977	0.85[EUR][1000 genomes]
rs72706446	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706447	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706451	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706453	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72706457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706465	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706474	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706497	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72706501	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706502	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708503	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708504	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708505	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708508	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708509	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708510	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708511	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708514	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708515	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708517	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708518	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72708519	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708520	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708521	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708526	0.83[AMR][1000 genomes]
rs72708527	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708529	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708530	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708535	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708537	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708538	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708539	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708544	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708545	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708547	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708548	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708553	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708554	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708555	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708556	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708558	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708563	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72708564	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72708565	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708569	1.00[EUR][1000 genomes]
rs72708571	1.00[EUR][1000 genomes]
rs72708573	1.00[EUR][1000 genomes]
rs72708581	1.00[EUR][1000 genomes]
rs72708582	0.93[EUR][1000 genomes]
rs72708584	0.88[EUR][1000 genomes]
rs72708586	1.00[EUR][1000 genomes]
rs72708592	1.00[EUR][1000 genomes]
rs72708595	1.00[EUR][1000 genomes]
rs72708598	1.00[EUR][1000 genomes]
rs72708600	1.00[EUR][1000 genomes]
rs74119827	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519713	0.92[EUR][1000 genomes]
rs7520476	1.00[EUR][1000 genomes]
rs7528172	1.00[EUR][1000 genomes]
rs7532458	1.00[EUR][1000 genomes]
rs7541245	1.00[EUR][1000 genomes]
rs7547138	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7547698	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7556347	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
4	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
7	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
10	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats 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	110 gene(s)	inside rSNPs	diseases
12	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
16	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
19	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146616800-146625200	Weak transcription	Pancreas	Pancrea
2	chr1:146617000-146624800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:146618600-146625400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:146618800-146628800	Weak transcription	Lung	lung
5	chr1:146618800-146628800	Weak transcription	Spleen	Spleen
6	chr1:146619200-146630600	Weak transcription	Gastric	stomach
7	chr1:146619800-146625200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:146619800-146628000	Weak transcription	HSMMtube	muscle
9	chr1:146620400-146622000	Weak transcription	Aorta	Aorta
10	chr1:146621200-146625800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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