Variant report

Variant	rs58438301
Chromosome Location	chr3:54277994-54277995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4446245	1.00[ASN][1000 genomes]
rs58531056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58859834	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1014157	chr3:54168755-54332321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv817328	chr3:54250314-54380438	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv876806	chr3:54256648-54330010	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv460555	chr3:54270646-54293345	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv460556	chr3:54270646-54293345	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv590359	chr3:54270646-54293345	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv470594	chr3:54270646-54296591	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54265200-54279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:54265400-54278000	Weak transcription	Psoas Muscle	Psoas
3	chr3:54276600-54278000	Active TSS	Brain Angular Gyrus	brain
4	chr3:54276800-54278200	Enhancers	Fetal Brain Male	brain
5	chr3:54277000-54278000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:54277000-54278000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr3:54277000-54278000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:54277000-54278000	Active TSS	Brain Hippocampus Middle	brain
9	chr3:54277000-54278000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr3:54277000-54278000	Active TSS	Duodenum Mucosa	Duodenum
11	chr3:54277000-54278000	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr3:54277000-54278000	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr3:54277000-54278000	Active TSS	A549	lung
14	chr3:54277000-54278200	Active TSS	NHLF	lung
15	chr3:54277200-54278000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:54277200-54278000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:54277200-54278000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:54277200-54278000	Active TSS	Adipose Nuclei	Adipose
19	chr3:54277200-54278000	Active TSS	Brain Substantia Nigra	brain
20	chr3:54277200-54278000	Active TSS	NHDF-Ad	bronchial
21	chr3:54277200-54278400	Active TSS	Esophagus	oesophagus
22	chr3:54277400-54278000	Active TSS	Fetal Lung	lung
23	chr3:54277400-54278000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr3:54277400-54278000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr3:54277400-54278000	Active TSS	Right Atrium	heart
26	chr3:54277400-54278000	Active TSS	K562	blood
27	chr3:54277400-54278200	Enhancers	Gastric	stomach
28	chr3:54277400-54280200	Weak transcription	Spleen	Spleen
29	chr3:54277600-54278200	Enhancers	Stomach Mucosa	stomach
30	chr3:54277800-54278000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:54277800-54278000	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr3:54277800-54278000	Enhancers	Brain Cingulate Gyrus	brain
33	chr3:54277800-54278000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:54277800-54278000	Flanking Active TSS	HepG2	liver
35	chr3:54277800-54278200	Flanking Active TSS	Ovary	ovary
36	chr3:54277800-54290600	Weak transcription	Fetal Kidney	kidney

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