Variant report

Variant	rs56254710
Chromosome Location	chr1:210041573-210041574
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11119356	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12401430	0.91[EUR][1000 genomes]
rs12410900	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs724286	0.94[EUR][1000 genomes];0.92[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210028200-210042400	Weak transcription	NHDF-Ad	bronchial
2	chr1:210037000-210042400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:210037200-210041800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:210037200-210041800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:210037200-210042400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:210037400-210041800	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:210037400-210042400	Weak transcription	Fetal Lung	lung
8	chr1:210037600-210042200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:210037600-210042200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:210037600-210042400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:210038000-210042200	Weak transcription	Brain Anterior Caudate	brain
12	chr1:210038000-210043200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:210038000-210044000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:210038000-210044600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:210038000-210048800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:210038600-210042600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:210038600-210042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:210040400-210042800	Weak transcription	NH-A	brain
19	chr1:210041000-210055400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:210041200-210044000	Enhancers	Brain Germinal Matrix	brain
21	chr1:210041200-210044000	Enhancers	Fetal Brain Male	brain
22	chr1:210041200-210044000	Enhancers	Ovary	ovary

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