Variant report

Variant	rs16880039
Chromosome Location	chr5:51986762-51986763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10041465	1.00[AMR][1000 genomes]
rs10042066	1.00[AMR][1000 genomes]
rs10051793	1.00[AMR][1000 genomes]
rs10054754	1.00[AMR][1000 genomes]
rs10060045	1.00[AMR][1000 genomes]
rs10063089	1.00[AMR][1000 genomes]
rs10078136	1.00[AMR][1000 genomes]
rs10471821	1.00[AMR][1000 genomes]
rs13357745	1.00[AMR][1000 genomes]
rs13360413	1.00[AMR][1000 genomes]
rs16880037	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28666730	1.00[AMR][1000 genomes]
rs28701709	1.00[AMR][1000 genomes]
rs58967333	1.00[AMR][1000 genomes]
rs59337949	1.00[AMR][1000 genomes]
rs61126266	1.00[AMR][1000 genomes]
rs6450077	1.00[AMR][1000 genomes]
rs6882082	1.00[AMR][1000 genomes]
rs6886933	1.00[AMR][1000 genomes]
rs7729056	1.00[AMR][1000 genomes]
rs9291996	1.00[AMR][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	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51971800-51987400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:51978800-51986800	Weak transcription	NHLF	lung
3	chr5:51980600-51986800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:51985400-51989200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:51985600-51988000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:51985600-51988400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:51985600-51988400	Enhancers	Hela-S3	cervix
8	chr5:51985600-51990600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:51985600-51993000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:51985800-51986800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:51985800-51989000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:51985800-51989600	Enhancers	Fetal Lung	lung
13	chr5:51986000-51988600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:51986200-51987200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:51986200-51988000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:51986200-51988200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:51986200-51988400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:51986200-51988600	Enhancers	NHDF-Ad	bronchial
19	chr5:51986200-51988800	Enhancers	NH-A	brain
20	chr5:51986200-51989000	Enhancers	Fetal Stomach	stomach
21	chr5:51986200-51989000	Enhancers	HSMM	muscle
22	chr5:51986200-51989200	Enhancers	HSMMtube	muscle
23	chr5:51986200-51989600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:51986400-51986800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr5:51986400-51987400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:51986400-51988200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:51986400-51988200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:51986400-51988800	Weak transcription	Spleen	Spleen
29	chr5:51986600-51986800	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr5:51986600-51990000	Weak transcription	Adipose Nuclei	Adipose

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