Variant report

Variant	rs2706238
Chromosome Location	chr13:51307156-51307157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2260128	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2761839	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2812237	0.86[ASN][1000 genomes]
rs2812240	0.98[ASN][1000 genomes]
rs3118077	0.98[ASN][1000 genomes]
rs514960	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1037350	chr13:51272518-51447354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2706238	NCRNA00282	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51304000-51308600	Enhancers	Dnd41	blood
2	chr13:51304800-51307400	Enhancers	Osteobl	bone
3	chr13:51305000-51307800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:51305000-51307800	Enhancers	HMEC	breast
5	chr13:51305200-51307200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:51305200-51307600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:51305400-51307200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:51305600-51307400	Enhancers	NHEK	skin
9	chr13:51306000-51307400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:51306000-51316800	Weak transcription	HSMM	muscle
11	chr13:51306200-51307600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:51306600-51307200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr13:51306600-51307200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:51306600-51307200	Enhancers	Left Ventricle	heart
15	chr13:51307000-51307200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr13:51307000-51307200	Enhancers	Esophagus	oesophagus
17	chr13:51307000-51307400	Enhancers	Brain Anterior Caudate	brain
18	chr13:51307000-51307400	Enhancers	Brain Cingulate Gyrus	brain
19	chr13:51307000-51307400	Enhancers	Brain Hippocampus Middle	brain
20	chr13:51307000-51307400	Enhancers	NHDF-Ad	bronchial
21	chr13:51307000-51307600	Enhancers	Fetal Heart	heart
22	chr13:51307000-51308200	Enhancers	Fetal Thymus	thymus
23	chr13:51307000-51308400	Enhancers	Primary T cells from cord blood	blood

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