Variant report

Variant	rs250727
Chromosome Location	chr5:76059301-76059302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs153313	0.84[ASN][1000 genomes]
rs181837	0.82[ASN][1000 genomes]
rs250724	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250726	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250729	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250757	0.84[ASN][1000 genomes]
rs250759	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs253086	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2562514	0.82[ASN][1000 genomes]
rs515362	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs250727	F2R	cis	Muscle Skeletal	GTEx
rs250727	F2RL1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76054400-76059600	Enhancers	NHEK	skin
2	chr5:76056200-76067000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:76057600-76060600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:76058400-76059600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:76058400-76059600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:76058400-76059800	Enhancers	HMEC	breast
7	chr5:76058600-76059800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:76058800-76059400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:76059000-76059400	Enhancers	HepG2	liver
10	chr5:76059200-76061400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:76059200-76062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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