Variant report

Variant	rs774146
Chromosome Location	chr1:220855427-220855428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1690714	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2069044	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2994525	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs337153	0.88[EUR][1000 genomes]
rs337154	0.88[EUR][1000 genomes]
rs366414	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs369049	0.83[EUR][1000 genomes]
rs381106	0.82[EUR][1000 genomes]
rs383681	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3849288	0.85[EUR][1000 genomes]
rs405196	0.85[EUR][1000 genomes]
rs414838	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs416735	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs426020	0.87[EUR][1000 genomes]
rs427216	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs438597	0.82[EUR][1000 genomes]
rs442236	0.81[EUR][1000 genomes]
rs774132	0.81[EUR][1000 genomes]
rs774145	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468194	chr1:220845610-220885612	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv549227	chr1:220845610-220885612	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs774146	C1orf115	Cis_1M	lymphoblastoid	RTeQTL
rs774146	C1orf115	cis	Esophagus Muscularis	GTEx
rs774146	MOSC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220854600-220863200	Weak transcription	Esophagus	oesophagus
2	chr1:220855200-220856400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:220855400-220858200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:220855400-220858200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:220855400-220858400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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