Variant report

Variant	rs62088713
Chromosome Location	chr18:28884179-28884180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1365290	0.88[EUR][1000 genomes]
rs16961568	0.88[EUR][1000 genomes]
rs16961573	0.88[EUR][1000 genomes]
rs16961579	0.88[EUR][1000 genomes]
rs16961588	0.88[EUR][1000 genomes]
rs16961589	0.88[EUR][1000 genomes]
rs16961590	0.88[EUR][1000 genomes]
rs16961592	0.88[EUR][1000 genomes]
rs16961601	0.88[EUR][1000 genomes]
rs16961605	0.88[EUR][1000 genomes]
rs16961609	0.88[EUR][1000 genomes]
rs16961613	0.88[EUR][1000 genomes]
rs16961641	0.93[EUR][1000 genomes]
rs16961648	0.90[EUR][1000 genomes]
rs16961657	0.90[EUR][1000 genomes]
rs16961679	0.90[EUR][1000 genomes]
rs17728400	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17801172	0.88[EUR][1000 genomes]
rs17801274	0.88[EUR][1000 genomes]
rs2912319	0.88[EUR][1000 genomes]
rs56697971	1.00[EUR][1000 genomes]
rs59592286	1.00[EUR][1000 genomes]
rs59593146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59844732	0.90[EUR][1000 genomes]
rs62087706	0.88[EUR][1000 genomes]
rs62087750	0.88[EUR][1000 genomes]
rs62087751	0.88[EUR][1000 genomes]
rs62087754	0.88[EUR][1000 genomes]
rs62087755	1.00[EUR][1000 genomes]
rs62087756	1.00[EUR][1000 genomes]
rs62088669	1.00[EUR][1000 genomes]
rs62088670	1.00[EUR][1000 genomes]
rs62088672	0.87[EUR][1000 genomes]
rs62088673	0.93[EUR][1000 genomes]
rs62088674	0.93[EUR][1000 genomes]
rs62088676	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6506905	0.88[EUR][1000 genomes]
rs6506907	0.88[EUR][1000 genomes]
rs7234474	0.88[EUR][1000 genomes]
rs7237750	0.88[EUR][1000 genomes]
rs8096678	0.88[EUR][1000 genomes]
rs9966811	0.90[EUR][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	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28880400-28884600	Enhancers	HMEC	breast
2	chr18:28880600-28884200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:28880600-28884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr18:28880600-28885200	Enhancers	NHEK	skin
5	chr18:28882000-28884800	Enhancers	HUVEC	blood vessel
6	chr18:28883000-28884600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:28883400-28884600	Enhancers	Fetal Intestine Small	intestine
8	chr18:28883600-28884400	Enhancers	NH-A	brain
9	chr18:28883600-28884600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:28883800-28884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:28883800-28884200	Weak transcription	Placenta	Placenta
12	chr18:28883800-28884200	Weak transcription	Placenta Amnion	Placenta Amnion

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