Variant report

Variant	rs605294
Chromosome Location	chr13:51314121-51314122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1342348	0.98[ASN][1000 genomes]
rs9562993	0.98[ASN][1000 genomes]
rs9562994	0.99[ASN][1000 genomes]
rs9562995	0.96[ASN][1000 genomes]
rs9562996	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568458	1.00[CEU][hapmap]
rs9568459	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568462	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568463	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568464	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568465	0.92[ASN][1000 genomes]
rs9568468	0.90[ASN][1000 genomes]
rs9568469	0.90[ASN][1000 genomes]
rs9568470	0.91[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51306000-51316800	Weak transcription	HSMM	muscle
2	chr13:51307800-51315000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:51312800-51314600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr13:51313200-51314600	Enhancers	Brain Hippocampus Middle	brain
5	chr13:51313400-51314200	Enhancers	Brain Angular Gyrus	brain
6	chr13:51313400-51315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:51313600-51314800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:51313800-51314400	Enhancers	Brain Substantia Nigra	brain
9	chr13:51313800-51314600	Enhancers	Brain Cingulate Gyrus	brain
10	chr13:51313800-51315000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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