Variant report

Variant	rs603420
Chromosome Location	chr11:57593155-57593156
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10792117	0.82[AFR][1000 genomes]
rs11229168	1.00[AMR][1000 genomes]
rs12283589	1.00[AMR][1000 genomes]
rs1553826	0.85[AFR][1000 genomes]
rs1588435	0.85[AFR][1000 genomes]
rs1704775	1.00[AMR][1000 genomes]
rs1941721	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2509806	1.00[AMR][1000 genomes]
rs2911725	1.00[YRI][hapmap]
rs2926660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926663	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2956980	0.80[AFR][1000 genomes]
rs2956983	0.89[AFR][1000 genomes]
rs2956984	1.00[AMR][1000 genomes]
rs2969941	0.85[AFR][1000 genomes]
rs2969942	0.85[AFR][1000 genomes]
rs2969945	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016261	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs3016262	0.89[AFR][1000 genomes]
rs3016263	0.85[AFR][1000 genomes]
rs3016264	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs3016293	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs593915	0.82[AFR][1000 genomes]
rs600251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs621683	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs621731	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs653915	1.00[AMR][1000 genomes]
rs6591449	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs660400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs667459	0.86[AFR][1000 genomes]
rs682785	0.95[AFR][1000 genomes]
rs686303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125096	0.85[AFR][1000 genomes]
rs7948282	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57579600-57604400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:57584800-57600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:57587200-57594600	Weak transcription	HSMMtube	muscle
4	chr11:57587200-57597200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:57587400-57600600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:57587800-57593200	Weak transcription	HUVEC	blood vessel
7	chr11:57589000-57600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:57590200-57606800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:57591200-57599600	Weak transcription	HSMM	muscle

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