Variant report

Variant	rs181749
Chromosome Location	chr5:57645344-57645345
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs151865	0.96[EUR][1000 genomes]
rs151870	0.96[EUR][1000 genomes]
rs168652	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs173448	0.96[EUR][1000 genomes]
rs181748	0.84[AFR][1000 genomes]
rs193497	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs245281	0.90[EUR][1000 genomes]
rs245283	0.90[EUR][1000 genomes]
rs245284	0.87[EUR][1000 genomes]
rs245286	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs245465	0.96[EUR][1000 genomes]
rs245466	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs245467	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs245468	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245469	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26970	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs26971	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26972	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26973	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26975	0.84[AFR][1000 genomes]
rs27568	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27724	0.84[AFR][1000 genomes]
rs28017	0.84[AFR][1000 genomes]
rs32629	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36646	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36647	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36648	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs393809	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs40622	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs420498	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs42317	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs445309	0.84[AFR][1000 genomes]
rs835232	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3489100	chr5:57545689-57669673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3489101	chr5:57545689-57669673	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57635400-57645600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:57642200-57649400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:57642800-57645400	Weak transcription	Placenta	Placenta
4	chr5:57644600-57645800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:57644800-57645400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:57644800-57645400	Enhancers	NHEK	skin
7	chr5:57644800-57645600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:57644800-57645800	Enhancers	Placenta Amnion	Placenta Amnion

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