Variant report

Variant	rs73330143
Chromosome Location	chr8:125089386-125089387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10087218	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs28413919	0.89[ASN][1000 genomes]
rs28758377	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs56813553	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs57265559	0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57874567	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs58562578	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs59645347	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs60486597	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs60939722	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73328390	0.83[ASN][1000 genomes]
rs73328395	0.83[ASN][1000 genomes]
rs73328397	0.83[ASN][1000 genomes]
rs73330111	0.89[ASN][1000 genomes]
rs73330116	0.89[ASN][1000 genomes]
rs73330120	0.89[ASN][1000 genomes]
rs73330123	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330135	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330139	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330144	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330146	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330149	0.97[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330154	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330160	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330174	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330176	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330180	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330182	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73332219	0.89[ASN][1000 genomes]
rs73703924	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73703927	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73703948	0.89[ASN][1000 genomes]
rs7817061	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125074800-125095400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:125076800-125121800	Weak transcription	Fetal Stomach	stomach
3	chr8:125080200-125090000	Weak transcription	Left Ventricle	heart
4	chr8:125084400-125100000	Weak transcription	Stomach Mucosa	stomach
5	chr8:125084400-125100200	Weak transcription	Gastric	stomach
6	chr8:125088000-125089800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:125088000-125090200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:125088200-125089600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:125088400-125089400	Enhancers	Ovary	ovary
10	chr8:125088600-125090800	Enhancers	Fetal Intestine Small	intestine
11	chr8:125088600-125091000	Enhancers	Fetal Intestine Large	intestine
12	chr8:125089000-125090600	Enhancers	Duodenum Mucosa	Duodenum
13	chr8:125089200-125090200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:125089200-125091400	Enhancers	Rectal Mucosa Donor 31	rectum

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