Variant report

Variant	rs337710
Chromosome Location	chr5:113747651-113747652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1013168	0.84[ASN][1000 genomes]
rs163210	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs163211	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168090	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337683	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs337684	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs337689	0.92[ASN][1000 genomes]
rs337699	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs337704	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs337705	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337707	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337708	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337709	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337711	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs337712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs338622	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs338623	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs338625	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs338663	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs338664	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs338666	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36947	0.87[ASN][1000 genomes]
rs388084	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6859284	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs921981	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][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	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113742600-113753200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:113743800-113751600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:113744800-113750800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:113744800-113753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:113744800-113754200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:113745200-113748400	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:113746400-113751600	Enhancers	Liver	Liver
8	chr5:113747200-113748000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:113747200-113748600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:113747200-113749800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:113747400-113749600	Enhancers	HMEC	breast
12	chr5:113747400-113751600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:113747600-113747800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:113747600-113748400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:113747600-113748600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:113747600-113749400	Enhancers	NHEK	skin

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