Variant report

Variant	rs57954407
Chromosome Location	chr5:178058799-178058800
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58683268	0.90[AFR][1000 genomes]
rs73351831	0.84[AFR][1000 genomes]
rs73351837	1.00[AFR][1000 genomes]
rs73351846	1.00[AFR][1000 genomes]
rs73351850	0.95[AFR][1000 genomes]
rs73351853	0.95[AFR][1000 genomes]
rs73353817	0.80[AFR][1000 genomes]
rs73353820	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178054600-178058800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:178054600-178059200	Weak transcription	Right Atrium	heart
3	chr5:178054600-178061600	Weak transcription	HMEC	breast
4	chr5:178057400-178058800	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:178057800-178059000	Enhancers	Primary B cells from cord blood	blood
6	chr5:178058000-178062000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:178058200-178062200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:178058400-178062200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:178058600-178062000	Weak transcription	HepG2	liver

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Input of quick search could be:

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

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