Variant report

Variant	rs247180
Chromosome Location	chr5:128072544-128072545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10054780	0.86[EUR][1000 genomes]
rs1035407	0.85[CHB][hapmap]
rs173520	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs189687	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2012809	0.85[CHB][hapmap]
rs247095	0.82[ASN][1000 genomes]
rs247097	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247099	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247100	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247209	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4836402	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6595859	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830484	chr5:127936347-128087308	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023405	chr5:127955360-128190069	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv882836	chr5:127999225-128136519	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv4995	chr5:128047181-128092021	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128071400-128072600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:128071600-128072800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:128071600-128073000	Enhancers	HMEC	breast
4	chr5:128071600-128073200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:128071600-128073800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:128071800-128072600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:128071800-128072800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:128071800-128073000	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr5:128071800-128073400	Enhancers	Brain Angular Gyrus	brain
10	chr5:128071800-128073400	Enhancers	Brain Cingulate Gyrus	brain
11	chr5:128071800-128073800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:128072000-128072600	Enhancers	Fetal Lung	lung
13	chr5:128072000-128073400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:128072200-128072600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:128072200-128072600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:128072200-128072600	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr5:128072200-128072600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr5:128072200-128072600	Enhancers	NHEK	skin
19	chr5:128072200-128072800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:128072400-128072800	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr5:128072400-128072800	Enhancers	Stomach Smooth Muscle	stomach
22	chr5:128072400-128072800	Enhancers	NH-A	brain

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