Variant report

Variant	rs55993310
Chromosome Location	chr4:160470049-160470050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10003094	0.92[ASN][1000 genomes]
rs10018111	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10034767	0.82[AMR][1000 genomes]
rs10440449	0.82[AMR][1000 genomes]
rs11100236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11100238	0.81[EUR][1000 genomes]
rs11100243	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11732099	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12640732	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12645160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646752	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12648292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1502722	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1502744	0.92[ASN][1000 genomes]
rs17239575	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1893953	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2088984	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28453123	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4317159	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4339163	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4340759	0.82[AMR][1000 genomes]
rs4473617	0.90[ASN][1000 genomes]
rs4493488	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55650126	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55886018	0.92[ASN][1000 genomes]
rs56032650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60517538	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62337276	0.92[ASN][1000 genomes]
rs62339593	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62339597	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6536442	0.82[AMR][1000 genomes]
rs6826002	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6839557	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6839759	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6840564	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6853778	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6856295	0.82[AMR][1000 genomes]
rs7654634	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7692467	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7693162	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs961786	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs998887	0.83[AFR][1000 genomes];0.80[AMR][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	nsv1015469	chr4:160389277-160841619	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537316	chr4:160389277-160841619	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160468200-160470800	Enhancers	Hela-S3	cervix
2	chr4:160468400-160471000	Enhancers	HMEC	breast
3	chr4:160468600-160473800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:160468800-160470400	Enhancers	HSMM	muscle
5	chr4:160468800-160470400	Enhancers	NHEK	skin
6	chr4:160468800-160470600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:160468800-160470600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:160468800-160470800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:160469000-160470200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:160469600-160472200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:160470000-160470600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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