Variant report

Variant	rs56000387
Chromosome Location	chr5:37831533-37831534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11738696	0.82[EUR][1000 genomes]
rs11740708	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11745806	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11747340	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16903732	0.90[EUR][1000 genomes]
rs17379667	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17386472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55750779	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56049351	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358931	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62358932	0.82[EUR][1000 genomes]
rs62358933	0.82[EUR][1000 genomes]
rs62360366	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62360369	0.90[EUR][1000 genomes]
rs62360370	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62360371	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62360373	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62360376	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62360378	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs949859	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37816200-37834000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:37816800-37831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:37817000-37831800	Weak transcription	NH-A	brain
4	chr5:37817400-37831800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:37818200-37834400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:37820200-37832000	Strong transcription	NHDF-Ad	bronchial
7	chr5:37822600-37834400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:37824400-37832400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:37824800-37831600	Weak transcription	NHEK	skin
10	chr5:37825200-37831800	Weak transcription	NHLF	lung
11	chr5:37825800-37832000	Weak transcription	Fetal Kidney	kidney
12	chr5:37827000-37831800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:37827000-37832000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:37829000-37833800	Enhancers	Rectal Smooth Muscle	rectum
15	chr5:37829400-37831600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:37829600-37831600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:37830400-37831800	Strong transcription	Fetal Stomach	stomach
18	chr5:37830600-37831800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:37830600-37832000	Genic enhancers	Osteobl	bone
20	chr5:37830600-37832800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:37830800-37832000	Enhancers	Colon Smooth Muscle	Colon
22	chr5:37830800-37832800	Weak transcription	Ovary	ovary
23	chr5:37831000-37831800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:37831200-37832000	Weak transcription	HSMMtube	muscle
25	chr5:37831400-37832200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:37831400-37833400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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