Variant report

Variant	rs4596837
Chromosome Location	chr1:185707564-185707565
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1124757	0.94[ASN][1000 genomes]
rs11579889	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11583092	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11583867	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587852	0.84[ASN][1000 genomes]
rs12057982	0.81[AMR][1000 genomes]
rs12063964	0.89[ASN][1000 genomes]
rs12078015	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079064	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083564	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085167	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087032	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12098116	0.84[AMR][1000 genomes]
rs1321668	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321669	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1321670	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1322359	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322362	0.81[AMR][1000 genomes]
rs1322364	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376668	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1407429	0.89[ASN][1000 genomes]
rs1407430	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1484135	0.84[ASN][1000 genomes]
rs1552281	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824390	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16824396	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16824516	0.89[ASN][1000 genomes]
rs17445778	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17446906	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17447869	0.81[AMR][1000 genomes]
rs17505819	0.84[ASN][1000 genomes]
rs17507044	0.82[EUR][1000 genomes]
rs2004324	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2057382	0.82[EUR][1000 genomes]
rs2129125	0.81[EUR][1000 genomes]
rs2170859	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220128	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35314812	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35425624	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515745	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4593772	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651287	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4651288	0.82[AMR][1000 genomes]
rs55993167	0.84[ASN][1000 genomes]
rs56238699	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57398679	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58708412	0.84[ASN][1000 genomes]
rs59253277	0.84[ASN][1000 genomes]
rs60376365	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61829860	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61829884	0.82[EUR][1000 genomes]
rs61831462	0.84[ASN][1000 genomes]
rs61831470	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61831480	0.84[ASN][1000 genomes]
rs61831482	0.83[EUR][1000 genomes]
rs61831483	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61831484	0.81[EUR][1000 genomes]
rs61831485	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61831486	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61831502	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61831503	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61831505	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61831519	0.88[ASN][1000 genomes]
rs61831521	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61831528	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831532	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692479	0.89[ASN][1000 genomes]
rs7414598	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544533	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs900775	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9286857	0.84[ASN][1000 genomes]
rs936723	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9628625	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs992760	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs994970	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2753636	chr1:185706947-185734487	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185704000-185714000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:185705200-185717000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:185705400-185710800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:185705800-185710200	Weak transcription	NHDF-Ad	bronchial
5	chr1:185707400-185707800	Active TSS	Aorta	Aorta
6	chr1:185707400-185708200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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