Variant report

Variant	rs1108712
Chromosome Location	chr5:119704917-119704918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10036322	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10036536	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10052468	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058597	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10059974	0.87[EUR][1000 genomes]
rs10072828	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10478464	0.80[AMR][1000 genomes]
rs13158141	0.84[EUR][1000 genomes]
rs13161485	0.83[EUR][1000 genomes]
rs13171950	0.83[AMR][1000 genomes]
rs13172224	0.83[EUR][1000 genomes]
rs13357775	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13435941	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347070	0.86[CEU][hapmap];0.89[YRI][hapmap];0.84[EUR][1000 genomes]
rs1368182	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1368189	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1368191	0.86[EUR][1000 genomes]
rs1394115	0.83[EUR][1000 genomes]
rs1432454	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1432456	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1432458	0.87[EUR][1000 genomes]
rs1432464	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17146485	0.81[EUR][1000 genomes]
rs17146501	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17422462	1.00[ASN][1000 genomes]
rs1835870	0.86[EUR][1000 genomes]
rs2082356	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2116606	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2897244	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35399227	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4499860	0.86[EUR][1000 genomes]
rs4895246	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4895247	0.90[EUR][1000 genomes]
rs4895248	0.90[EUR][1000 genomes]
rs4895249	0.87[EUR][1000 genomes]
rs4895250	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58274987	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59264625	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59336675	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6595225	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6595232	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6863943	0.88[EUR][1000 genomes]
rs6865215	0.86[CEU][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6878266	0.82[AMR][1000 genomes]
rs6895493	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6896794	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6899092	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72784177	0.87[EUR][1000 genomes]
rs7446731	0.81[EUR][1000 genomes]
rs753641	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7701804	0.80[AMR][1000 genomes]
rs7709140	0.81[EUR][1000 genomes]
rs7713691	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714965	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7718509	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722765	0.81[EUR][1000 genomes]
rs7727978	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9327141	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982827	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv882786	chr5:119615110-119714817	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv527509	chr5:119697716-119724069	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119702400-119707800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:119703800-119705400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:119703800-119705400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:119703800-119705600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:119703800-119705600	Enhancers	HMEC	breast
6	chr5:119704000-119705000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:119704000-119705200	ZNF genes & repeats	Dnd41	blood
8	chr5:119704400-119705000	Enhancers	Colonic Mucosa	Colon
9	chr5:119704400-119705400	Enhancers	Gastric	stomach
10	chr5:119704400-119708600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:119704600-119705000	Enhancers	Duodenum Mucosa	Duodenum
12	chr5:119704600-119705000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
13	chr5:119704600-119705200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:119704600-119705200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:119704600-119705200	Enhancers	Stomach Mucosa	stomach
16	chr5:119704600-119705400	Enhancers	Pancreas	Pancrea
17	chr5:119704800-119705200	Enhancers	Liver	Liver
18	chr5:119704800-119705200	Enhancers	NHEK	skin

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