Variant report

Variant	rs56177976
Chromosome Location	chr5:114729764-114729765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10447263	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10463669	0.81[AMR][1000 genomes]
rs10519405	0.86[AMR][1000 genomes]
rs10519406	0.85[AMR][1000 genomes]
rs11241323	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12516512	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12519220	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12657417	0.85[AMR][1000 genomes]
rs1445697	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs166566	0.85[AMR][1000 genomes]
rs17137700	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2416401	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2416402	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2416403	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2416404	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2416406	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2591258	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2605178	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2605179	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2900093	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34919660	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35900499	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4705524	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4705733	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7703838	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7704303	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7715232	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7721559	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7733943	0.88[AMR][1000 genomes];0.86[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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 target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114725800-114730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:114727600-114730000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:114728200-114730000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr5:114728400-114731200	Enhancers	Stomach Mucosa	stomach
5	chr5:114728800-114730000	Enhancers	NHDF-Ad	bronchial
6	chr5:114729000-114729800	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr5:114729000-114729800	Enhancers	Right Ventricle	heart
8	chr5:114729000-114730000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:114729000-114731800	Weak transcription	Osteobl	bone
10	chr5:114729200-114730000	Enhancers	Fetal Muscle Trunk	muscle
11	chr5:114729200-114730000	Enhancers	Lung	lung
12	chr5:114729200-114730000	Enhancers	Psoas Muscle	Psoas
13	chr5:114729200-114732000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:114729400-114729800	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr5:114729400-114731800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:114729400-114734200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:114729600-114729800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:114729600-114730000	Enhancers	Gastric	stomach
19	chr5:114729600-114730400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr5:114729600-114731000	Enhancers	Colonic Mucosa	Colon
21	chr5:114729600-114737000	Weak transcription	NHLF	lung

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