Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17102120	1.00[AMR][1000 genomes]
rs55641087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55927436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56122816	1.00[AMR][1000 genomes]
rs56199072	1.00[AMR][1000 genomes]
rs56294778	1.00[AMR][1000 genomes]
rs57435109	1.00[AMR][1000 genomes]
rs57501000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58128375	1.00[AMR][1000 genomes]
rs58160764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59367539	1.00[AMR][1000 genomes]
rs72941639	1.00[AMR][1000 genomes]
rs74091960	1.00[AMR][1000 genomes]
rs74091967	1.00[AMR][1000 genomes]
rs74092053	1.00[AMR][1000 genomes]
rs74092055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74092056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74092060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74092086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74094707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74094729	1.00[AMR][1000 genomes]
rs74094736	1.00[AMR][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	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830315	chr1:79008443-79200591	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv871140	chr1:79095581-79155134	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79117400-79144000	Weak transcription	Esophagus	oesophagus
2	chr1:79117400-79144000	Weak transcription	Spleen	Spleen
3	chr1:79117600-79153000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:79126400-79138000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:79126600-79148000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:79129000-79138200	Weak transcription	Lung	lung
7	chr1:79129200-79143800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:79129400-79137600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:79129400-79138200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:79129400-79138200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:79129400-79138600	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:79129400-79139800	Weak transcription	Primary T cells from cord blood	blood
13	chr1:79129400-79144000	Weak transcription	Ovary	ovary
14	chr1:79129600-79141800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:79130000-79141200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:79130200-79141800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:79130800-79144000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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