Variant report

Variant	rs7696540
Chromosome Location	chr4:8355686-8355687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1095600	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678273	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2279193	0.95[ASN][1000 genomes]
rs4696820	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv878605	chr4:8332057-8378959	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878606	chr4:8349738-8377058	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv878607	chr4:8349738-8380857	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv878608	chr4:8349738-8386720	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv461219	chr4:8353829-8390646	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv593637	chr4:8353829-8390646	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7696540	ACOX3	Cis_1M	lymphoblastoid	RTeQTL
rs7696540	RP11-774O3.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8349000-8357600	Weak transcription	Fetal Heart	heart
2	chr4:8351400-8356400	Enhancers	Ovary	ovary
3	chr4:8351600-8356000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:8351600-8362800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:8352400-8356200	Enhancers	Fetal Thymus	thymus
6	chr4:8353000-8356200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:8353000-8357400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:8353200-8356600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:8353400-8366200	Weak transcription	Aorta	Aorta
10	chr4:8353600-8356800	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:8353600-8366000	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:8353800-8355800	Enhancers	Lung	lung
13	chr4:8353800-8357800	Enhancers	NH-A	brain
14	chr4:8354000-8357600	Weak transcription	Fetal Kidney	kidney
15	chr4:8354200-8359400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:8354200-8360000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:8354200-8366200	Weak transcription	Brain Substantia Nigra	brain
18	chr4:8354400-8356200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:8354400-8357600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:8354400-8357600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:8354400-8357600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:8354400-8366000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:8354400-8366000	Weak transcription	Brain Angular Gyrus	brain
24	chr4:8354400-8367000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:8354400-8367200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:8354600-8357800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:8354600-8381000	Weak transcription	Right Atrium	heart
28	chr4:8354800-8356200	Enhancers	Dnd41	blood
29	chr4:8354800-8356400	Weak transcription	HMEC	breast
30	chr4:8355000-8355800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:8355000-8356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:8355000-8358200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:8355000-8366200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:8355200-8355800	Enhancers	Fetal Stomach	stomach
35	chr4:8355200-8357600	Weak transcription	Right Ventricle	heart
36	chr4:8355200-8358600	Weak transcription	Gastric	stomach
37	chr4:8355400-8355800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:8355400-8355800	Flanking Active TSS	HSMM	muscle
39	chr4:8355400-8355800	Flanking Active TSS	HSMMtube	muscle
40	chr4:8355400-8356000	Bivalent Enhancer	NHLF	lung
41	chr4:8355400-8356200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:8355400-8356200	Enhancers	Placenta	Placenta
43	chr4:8355400-8356200	Enhancers	Thymus	Thymus
44	chr4:8355400-8357600	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:8355400-8365400	Weak transcription	Left Ventricle	heart
46	chr4:8355400-8366000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:8355600-8355800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:8355600-8355800	Enhancers	Fetal Lung	lung
49	chr4:8355600-8355800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr4:8355600-8355800	ZNF genes & repeats	Spleen	Spleen

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