Variant report

Variant	rs72784445
Chromosome Location	chr5:92579657-92579658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10428629	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11950344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11950401	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11951631	0.92[AMR][1000 genomes]
rs11956024	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17082959	0.82[AMR][1000 genomes]
rs17083014	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17083016	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4072110	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4526087	0.87[AMR][1000 genomes]
rs59636184	0.92[AMR][1000 genomes]
rs6867000	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6884717	0.90[AMR][1000 genomes]
rs72784412	0.92[AMR][1000 genomes]
rs72784413	0.90[AMR][1000 genomes]
rs72784415	0.90[AMR][1000 genomes]
rs72784426	0.95[AMR][1000 genomes]
rs72784435	0.93[EUR][1000 genomes]
rs72784436	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72784437	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72784438	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7341012	0.90[AMR][1000 genomes]
rs7725232	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7733839	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7738036	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9764312	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830400	chr5:92515026-92738896	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv830401	chr5:92518294-92703611	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462252	chr5:92557969-92595939	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv598941	chr5:92557969-92595939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv462253	chr5:92557969-92611658	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv598942	chr5:92557969-92611658	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1028785	chr5:92564952-92596445	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv882381	chr5:92576494-92649716	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92573000-92581000	Weak transcription	NHLF	lung
2	chr5:92573600-92581000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:92573600-92585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:92578600-92579800	Enhancers	Fetal Lung	lung
5	chr5:92578800-92579800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:92578800-92579800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:92578800-92579800	Enhancers	HUVEC	blood vessel
8	chr5:92578800-92584000	Enhancers	HepG2	liver
9	chr5:92579000-92579800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:92579000-92579800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:92579000-92581000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:92579200-92580200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:92579400-92582600	Enhancers	Fetal Stomach	stomach
14	chr5:92579600-92579800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:92579600-92580600	Weak transcription	Fetal Kidney	kidney
16	chr5:92579600-92581400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:92579600-92581800	Enhancers	Stomach Smooth Muscle	stomach
18	chr5:92579600-92582000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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