Variant report

Variant	rs16881347
Chromosome Location	chr5:52645739-52645740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10043976	1.00[EUR][1000 genomes]
rs10076823	1.00[EUR][1000 genomes]
rs10079630	1.00[EUR][1000 genomes]
rs13160746	0.98[ASN][1000 genomes]
rs13181406	0.98[ASN][1000 genomes]
rs13183905	0.98[ASN][1000 genomes]
rs13354542	0.86[EUR][1000 genomes]
rs16881267	0.81[AFR][1000 genomes]
rs16881273	1.00[EUR][1000 genomes]
rs16881297	1.00[EUR][1000 genomes]
rs16881337	1.00[ASN][1000 genomes]
rs16881355	1.00[ASN][1000 genomes]
rs28461700	1.00[EUR][1000 genomes]
rs34595420	0.98[ASN][1000 genomes]
rs35114176	1.00[ASN][1000 genomes]
rs4260626	1.00[EUR][1000 genomes]
rs4264908	1.00[EUR][1000 genomes]
rs56913728	0.86[EUR][1000 genomes]
rs6866997	0.98[ASN][1000 genomes]
rs6883267	1.00[EUR][1000 genomes]
rs6886254	0.86[EUR][1000 genomes]
rs7446168	0.98[ASN][1000 genomes]
rs7710631	1.00[EUR][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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:52640000-52646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:52640000-52646200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:52640400-52645800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:52640800-52646200	Weak transcription	NHEK	skin
5	chr5:52642800-52656000	Weak transcription	Aorta	Aorta
6	chr5:52643800-52645800	Weak transcription	NHDF-Ad	bronchial
7	chr5:52644000-52646000	Weak transcription	HMEC	breast
8	chr5:52645200-52646200	Enhancers	Fetal Brain Male	brain
9	chr5:52645600-52646400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:52645600-52646600	Weak transcription	Fetal Brain Female	brain
11	chr5:52645600-52647400	Enhancers	HSMM	muscle
12	chr5:52645600-52647400	Enhancers	NHLF	lung
13	chr5:52645600-52647600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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