Variant report

Variant	rs2812243
Chromosome Location	chr13:51306977-51306978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1323886	0.89[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1853558	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1853559	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2492345	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2540523	0.90[JPT][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2540524	0.82[EUR][1000 genomes]
rs2615123	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2706228	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2706229	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2706234	1.00[ASN][1000 genomes]
rs2706235	0.89[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2706239	0.96[ASN][1000 genomes]
rs2706241	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2706242	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706244	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2706245	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2761840	1.00[ASN][1000 genomes]
rs2761841	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2761842	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2761844	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2761845	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2761846	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2761847	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2761849	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2761850	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2761851	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2761852	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2761853	1.00[ASN][1000 genomes]
rs2761854	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2761855	1.00[ASN][1000 genomes]
rs2812235	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2812238	1.00[ASN][1000 genomes]
rs2812241	1.00[ASN][1000 genomes]
rs2812242	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2812244	1.00[ASN][1000 genomes]
rs2812246	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2812247	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2812249	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2812250	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7328949	0.85[CHD][hapmap];0.82[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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51301400-51307000	Weak transcription	Fetal Heart	heart
2	chr13:51302400-51307000	Weak transcription	Fetal Thymus	thymus
3	chr13:51304000-51308600	Enhancers	Dnd41	blood
4	chr13:51304800-51307400	Enhancers	Osteobl	bone
5	chr13:51305000-51307800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:51305000-51307800	Enhancers	HMEC	breast
7	chr13:51305200-51307200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:51305200-51307600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:51305400-51307200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:51305600-51307400	Enhancers	NHEK	skin
11	chr13:51305800-51307000	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:51305800-51307000	Weak transcription	NHDF-Ad	bronchial
13	chr13:51306000-51307000	Weak transcription	Brain Anterior Caudate	brain
14	chr13:51306000-51307000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:51306000-51307400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:51306000-51316800	Weak transcription	HSMM	muscle
17	chr13:51306200-51307600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:51306400-51307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:51306600-51307200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr13:51306600-51307200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:51306600-51307200	Enhancers	Left Ventricle	heart

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