Variant report

Variant	rs10052870
Chromosome Location	chr5:52257002-52257003
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10038737	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10039574	1.00[EUR][1000 genomes]
rs13360524	1.00[EUR][1000 genomes]
rs1421924	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16880544	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16880552	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3733880	0.87[EUR][1000 genomes]
rs41308291	0.87[EUR][1000 genomes]
rs41311329	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58956516	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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 target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52250000-52271600	Weak transcription	Aorta	Aorta
2	chr5:52252800-52259000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:52253600-52257200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:52253600-52257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:52256600-52258400	Enhancers	NHEK	skin
6	chr5:52256800-52257400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:52256800-52257400	Enhancers	HMEC	breast
8	chr5:52256800-52257800	Enhancers	Fetal Heart	heart
9	chr5:52257000-52257200	Enhancers	Left Ventricle	heart
10	chr5:52257000-52257200	Enhancers	Spleen	Spleen
11	chr5:52257000-52257400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:52257000-52258000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:52257000-52258000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:52257000-52258400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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