Variant report

Variant	rs3133986
Chromosome Location	chr8:94953580-94953581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs3115905	1.00[CHB][hapmap]
rs3115906	1.00[CHB][hapmap]
rs3115909	1.00[CHB][hapmap]
rs3115910	1.00[CHB][hapmap]
rs3115913	0.87[AMR][1000 genomes]
rs3115914	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3115915	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3115916	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115917	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115918	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115919	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115920	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3115921	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115925	0.89[EUR][1000 genomes]
rs3115926	0.89[EUR][1000 genomes]
rs3115927	0.89[EUR][1000 genomes]
rs3115931	0.89[EUR][1000 genomes]
rs3115936	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115937	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115941	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115946	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3133978	1.00[CHB][hapmap]
rs3133980	1.00[CHB][hapmap]
rs3133983	1.00[CHB][hapmap]
rs3133985	1.00[CHB][hapmap]
rs3133988	0.89[EUR][1000 genomes]
rs3133989	0.89[EUR][1000 genomes]
rs3133990	0.89[EUR][1000 genomes]
rs3133993	0.89[EUR][1000 genomes]
rs3133997	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133999	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3134000	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134001	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134002	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134003	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134004	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134005	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3134006	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134007	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134008	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134009	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134011	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134013	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3134016	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55691744	0.89[EUR][1000 genomes]
rs55914182	0.89[EUR][1000 genomes]
rs58454714	0.89[EUR][1000 genomes]
rs58866863	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59023505	0.89[EUR][1000 genomes]
rs59797932	0.89[EUR][1000 genomes]
rs61294318	0.89[EUR][1000 genomes]
rs61708878	0.89[EUR][1000 genomes]
rs62522980	0.89[EUR][1000 genomes]
rs62522989	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62523005	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62523006	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62523009	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62523010	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62523011	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62523014	0.80[AMR][1000 genomes]
rs62523015	0.80[AMR][1000 genomes]
rs62523016	0.80[AMR][1000 genomes]
rs6983462	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997830	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006289	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs723039	1.00[CHB][hapmap]
rs7836063	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7840040	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94948200-94956600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:94948400-94956400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:94948800-94955800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:94948800-94955800	Weak transcription	Ovary	ovary
5	chr8:94948800-94956200	Weak transcription	NHLF	lung
6	chr8:94949000-94954200	Weak transcription	Right Ventricle	heart
7	chr8:94950800-94953800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:94950800-94954000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr8:94951000-94955600	Weak transcription	Psoas Muscle	Psoas
10	chr8:94951200-94955800	Weak transcription	Fetal Heart	heart
11	chr8:94951400-94954000	Weak transcription	Right Atrium	heart
12	chr8:94951400-94954800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:94951400-94955400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:94951400-94955400	Weak transcription	Left Ventricle	heart
15	chr8:94951400-94956000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:94951600-94955400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:94951800-94955800	Weak transcription	Osteobl	bone
18	chr8:94951800-94956000	Weak transcription	NHDF-Ad	bronchial
19	chr8:94952000-94954200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr8:94952200-94956000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:94952400-94953600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:94952400-94953600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
23	chr8:94952600-94953600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:94952800-94954400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:94953400-94954000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:94953400-94954400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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