Variant report

Variant	rs28363551
Chromosome Location	chr1:171077606-171077607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12074485	1.00[EUR][1000 genomes]
rs1920141	1.00[EUR][1000 genomes]
rs28363517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28363566	1.00[AFR][1000 genomes]
rs28363567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28363580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369840	1.00[AMR][1000 genomes]
rs28369874	1.00[AMR][1000 genomes]
rs28369898	1.00[AMR][1000 genomes]
rs2901481	1.00[EUR][1000 genomes]
rs56784659	1.00[EUR][1000 genomes]
rs59008898	1.00[AMR][1000 genomes]
rs61289330	1.00[EUR][1000 genomes]
rs7056510	1.00[EUR][1000 genomes]
rs73036080	1.00[AMR][1000 genomes]
rs74122251	1.00[AMR][1000 genomes]
rs74122277	1.00[AMR][1000 genomes]
rs74122278	1.00[AMR][1000 genomes]
rs7471584	1.00[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171071000-171079600	Weak transcription	Left Ventricle	heart
2	chr1:171075400-171078200	Genic enhancers	Liver	Liver
3	chr1:171075600-171079800	Weak transcription	Pancreas	Pancrea
4	chr1:171076200-171078000	Enhancers	NHLF	lung
5	chr1:171076800-171078000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:171076800-171078200	Enhancers	Aorta	Aorta
7	chr1:171076800-171078400	Enhancers	Adipose Nuclei	Adipose
8	chr1:171076800-171079600	Enhancers	Fetal Lung	lung
9	chr1:171077000-171078600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:171077600-171081800	Weak transcription	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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