Variant report

Variant	rs59767583
Chromosome Location	chr8:121212426-121212427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2305597	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35784860	0.82[ASN][1000 genomes]
rs4870722	0.82[ASN][1000 genomes]
rs6988293	0.82[ASN][1000 genomes]
rs6994973	0.84[ASN][1000 genomes]
rs6996780	0.82[ASN][1000 genomes]
rs7004406	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7015242	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121197800-121221400	Weak transcription	Aorta	Aorta
2	chr8:121206400-121216600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:121206600-121223600	Weak transcription	Placenta	Placenta
4	chr8:121208200-121216600	Weak transcription	Ovary	ovary
5	chr8:121208800-121216800	Weak transcription	Gastric	stomach
6	chr8:121208800-121217200	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:121209200-121213400	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:121209200-121216200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:121209200-121216600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:121209200-121216800	Weak transcription	Fetal Stomach	stomach
11	chr8:121209200-121216800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:121209400-121213000	Weak transcription	Adipose Nuclei	Adipose
13	chr8:121209600-121212600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:121210200-121216400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:121210400-121221400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:121210600-121222400	Weak transcription	Left Ventricle	heart
17	chr8:121210800-121216400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:121211400-121214200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:121212000-121227200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:121212200-121216000	Weak transcription	Fetal Lung	lung

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