Variant report

Variant	rs72954818
Chromosome Location	chr6:54709640-54709641
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10807486	0.82[EUR][1000 genomes]
rs12199500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12203166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12203906	0.90[AMR][1000 genomes]
rs12203996	0.90[AMR][1000 genomes]
rs12205593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12211620	1.00[AMR][1000 genomes]
rs72954824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72954829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72954849	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72954852	0.90[EUR][1000 genomes]
rs72957593	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7744880	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54707200-54710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:54707400-54710200	Weak transcription	NHEK	skin
3	chr6:54707400-54710800	Weak transcription	Placenta	Placenta
4	chr6:54709000-54710000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:54709000-54710400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:54709000-54713400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr6:54709000-54714200	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:54709200-54709800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr6:54709200-54710200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:54709200-54710200	Enhancers	HMEC	breast
11	chr6:54709400-54709800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:54709400-54710800	Weak transcription	Fetal Intestine Small	intestine
13	chr6:54709600-54709800	Enhancers	Sigmoid Colon	Sigmoid Colon

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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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