Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10065303	0.86[JPT][hapmap];0.81[YRI][hapmap]
rs10065699	0.86[JPT][hapmap];0.81[YRI][hapmap]
rs10452450	0.85[JPT][hapmap]
rs11957770	0.85[CHD][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12108729	0.85[AMR][1000 genomes]
rs12109774	0.86[JPT][hapmap];0.84[YRI][hapmap]
rs13360359	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16889167	0.82[JPT][hapmap];0.92[YRI][hapmap]
rs17721564	0.86[JPT][hapmap]
rs3805555	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs56658018	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58202935	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58830206	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60527700	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60790143	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60900708	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61288498	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6869400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73093337	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73093348	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73093351	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs950446	0.86[JPT][hapmap]

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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58375400-58376600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:58375400-58376600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:58375400-58376600	Enhancers	NHEK	skin
4	chr5:58375600-58376600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:58375600-58376600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:58375600-58376600	Enhancers	HUVEC	blood vessel
7	chr5:58375600-58376600	Enhancers	NHLF	lung
8	chr5:58375600-58376800	Enhancers	HSMM	muscle
9	chr5:58375800-58376600	Enhancers	Colon Smooth Muscle	Colon
10	chr5:58375800-58376600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr5:58375800-58376600	Enhancers	Fetal Heart	heart
12	chr5:58375800-58376600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:58375800-58376600	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:58376200-58377400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:58376400-58376800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:58376400-58377800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:58376400-58378000	Enhancers	A549	lung
18	chr5:58376400-58388200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:58376400-58389200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:58376400-58390400	Weak transcription	Hela-S3	cervix

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