Variant report

Variant	rs28363562
Chromosome Location	chr1:171079459-171079460
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]
rs28363513	0.87[EUR][1000 genomes]
rs28363518	0.87[EUR][1000 genomes]
rs28363524	0.87[EUR][1000 genomes]
rs28363540	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28363542	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28363552	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28363558	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28363570	0.87[EUR][1000 genomes]
rs28745582	0.87[EUR][1000 genomes]
rs28745589	0.87[EUR][1000 genomes]
rs61997161	0.82[EUR][1000 genomes]
rs7051095	0.87[EUR][1000 genomes]
rs7062331	0.87[EUR][1000 genomes]
rs74122218	0.87[EUR][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171071000-171079600	Weak transcription	Left Ventricle	heart
2	chr1:171075600-171079800	Weak transcription	Pancreas	Pancrea
3	chr1:171076800-171079600	Enhancers	Fetal Lung	lung
4	chr1:171077600-171081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:171077800-171080000	Weak transcription	Small Intestine	intestine
6	chr1:171078000-171079600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:171078200-171079600	Weak transcription	Aorta	Aorta
8	chr1:171078400-171079800	Weak transcription	Adipose Nuclei	Adipose
9	chr1:171078600-171079800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:171079000-171081000	Enhancers	NHLF	lung
11	chr1:171079400-171080000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:171079400-171080800	Genic enhancers	Liver	Liver
13	chr1:171079400-171080800	Enhancers	Right Atrium	heart
14	chr1:171079400-171081000	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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