Variant report

Variant	rs4072110
Chromosome Location	chr5:92581735-92581736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10428629	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11950344	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11950401	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11951631	0.87[AMR][1000 genomes]
rs11956024	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12657207	0.92[AFR][1000 genomes]
rs17083014	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17083016	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4526087	0.82[AMR][1000 genomes]
rs59636184	0.92[AMR][1000 genomes]
rs61513449	0.89[AFR][1000 genomes]
rs6867000	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6884717	0.90[AMR][1000 genomes]
rs72784412	0.87[AMR][1000 genomes]
rs72784413	0.85[AMR][1000 genomes]
rs72784415	0.85[AMR][1000 genomes]
rs72784426	0.90[AMR][1000 genomes]
rs72784435	0.92[EUR][1000 genomes]
rs72784436	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72784437	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72784438	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72784445	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7341012	0.90[AMR][1000 genomes]
rs7725232	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7733839	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7738036	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9764312	0.82[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4072110	NR2F1	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92573600-92585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:92578800-92584000	Enhancers	HepG2	liver
3	chr5:92579400-92582600	Enhancers	Fetal Stomach	stomach
4	chr5:92579600-92581800	Enhancers	Stomach Smooth Muscle	stomach
5	chr5:92579600-92582000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:92579800-92582000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:92579800-92584600	Weak transcription	HUVEC	blood vessel
8	chr5:92580200-92582200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr5:92580200-92582600	Enhancers	Colon Smooth Muscle	Colon
10	chr5:92580600-92583200	Enhancers	Fetal Kidney	kidney
11	chr5:92580800-92585000	Enhancers	Fetal Lung	lung
12	chr5:92581000-92582400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:92581000-92582400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:92581000-92582400	Enhancers	Adipose Nuclei	Adipose
15	chr5:92581000-92582400	Enhancers	Fetal Muscle Leg	muscle
16	chr5:92581000-92582400	Enhancers	Ovary	ovary
17	chr5:92581000-92582600	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:92581000-92582600	Enhancers	NHLF	lung
19	chr5:92581000-92583000	Enhancers	Rectal Smooth Muscle	rectum
20	chr5:92581400-92581800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:92581400-92582600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr5:92581400-92582800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:92581400-92584600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:92581400-92585200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:92581600-92581800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:92581600-92581800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:92581600-92582000	Weak transcription	Brain Anterior Caudate	brain
28	chr5:92581600-92582400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:92581600-92582400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:92581600-92582400	Enhancers	Fetal Brain Male	brain
31	chr5:92581600-92582600	Enhancers	Brain Angular Gyrus	brain
32	chr5:92581600-92582600	Enhancers	NHDF-Ad	bronchial

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