Variant report

Variant	rs9289030
Chromosome Location	chr3:115680520-115680521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13075363	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13077497	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13090526	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13315620	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13319721	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28413947	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4277685	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4518123	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4831211	0.81[ASN][1000 genomes]
rs4831212	0.97[ASN][1000 genomes]
rs4831214	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4831216	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56265174	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9283564	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9289031	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289032	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818250	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9818948	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9834036	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9841923	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9856549	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865369	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871164	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9871905	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931948	chr3:114884574-115802562	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2760762	chr3:115476222-115807650	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv829685	chr3:115643521-115812913	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv591344	chr3:115672480-115704434	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115650400-115686600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:115678200-115685000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:115679000-115681000	Enhancers	Brain Cingulate Gyrus	brain
4	chr3:115679200-115680600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:115679200-115680800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:115679400-115680800	Enhancers	NHDF-Ad	bronchial
7	chr3:115679600-115680600	Enhancers	Brain Hippocampus Middle	brain
8	chr3:115679800-115680600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:115679800-115680600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:115679800-115681000	Enhancers	Adipose Nuclei	Adipose
11	chr3:115679800-115681000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:115679800-115681000	Enhancers	Fetal Brain Female	brain
13	chr3:115679800-115681200	Enhancers	Brain Anterior Caudate	brain
14	chr3:115680000-115680800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr3:115680200-115680600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:115680200-115680600	Weak transcription	Fetal Brain Male	brain
17	chr3:115680200-115681200	Weak transcription	Fetal Kidney	kidney
18	chr3:115680200-115694600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:115680400-115680600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:115680400-115680600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:115680400-115681000	Enhancers	Brain Substantia Nigra	brain
22	chr3:115680400-115681200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:115680400-115681800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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