Variant report

Variant	rs487766
Chromosome Location	chr15:58693860-58693861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11853674	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11855284	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11856159	0.90[CHB][hapmap]
rs11857380	0.90[CHB][hapmap]
rs11858481	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440032	0.90[CHB][hapmap]
rs12905732	0.92[ASN][1000 genomes]
rs12906722	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16940204	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821310	0.90[CHB][hapmap]
rs2043084	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35128881	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7171102	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs487766	F13A1	trans	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58689400-58694000	Weak transcription	HMEC	breast
2	chr15:58689400-58694000	Weak transcription	NHEK	skin
3	chr15:58689400-58694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:58689600-58694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:58689600-58694200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:58689800-58694400	Weak transcription	NHDF-Ad	bronchial
7	chr15:58690000-58694200	Weak transcription	Right Atrium	heart
8	chr15:58690600-58694200	Weak transcription	Fetal Stomach	stomach
9	chr15:58690600-58694200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:58690800-58702400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:58691200-58694400	Weak transcription	Placenta	Placenta
12	chr15:58691400-58697400	Enhancers	K562	blood
13	chr15:58692200-58695000	Enhancers	Liver	Liver
14	chr15:58693600-58694000	Enhancers	Thymus	Thymus
15	chr15:58693600-58694000	Enhancers	Spleen	Spleen
16	chr15:58693600-58695400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:58693800-58694000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:58693800-58694800	Enhancers	Esophagus	oesophagus
19	chr15:58693800-58695400	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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