Variant report

Variant	rs252046
Chromosome Location	chr5:52650747-52650748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10471379	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12658752	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153128	0.82[ASN][1000 genomes]
rs251523	0.82[ASN][1000 genomes]
rs251526	0.80[ASN][1000 genomes]
rs252036	0.83[ASN][1000 genomes]
rs252037	0.83[ASN][1000 genomes]
rs252039	0.83[ASN][1000 genomes]
rs28088	0.82[ASN][1000 genomes]
rs37775	0.83[ASN][1000 genomes]
rs37779	0.88[ASN][1000 genomes]
rs37781	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs37782	0.97[ASN][1000 genomes]
rs37784	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs38049	0.83[ASN][1000 genomes]
rs40229	0.83[ASN][1000 genomes]
rs420035	0.82[ASN][1000 genomes]
rs73754209	0.83[ASN][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	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
4	nsv508356	chr5:52646168-52703120	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52642800-52656000	Weak transcription	Aorta	Aorta
2	chr5:52646400-52651200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:52647400-52651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:52647400-52651000	Weak transcription	NHLF	lung
5	chr5:52647400-52651400	Weak transcription	NHDF-Ad	bronchial
6	chr5:52647400-52651600	Weak transcription	HSMM	muscle
7	chr5:52647600-52654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:52649600-52655000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:52650400-52652400	Enhancers	Hela-S3	cervix
10	chr5:52650400-52653000	Enhancers	Osteobl	bone
11	chr5:52650600-52651800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:52650600-52652600	Enhancers	Muscle Satellite Cultured Cells	--

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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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