Variant report

Variant	rs7366220
Chromosome Location	chr1:85671184-85671185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11161556	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11583836	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12563295	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17123650	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36006436	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4243776	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4255398	0.98[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4907139	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4949892	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60156243	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6671589	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72722613	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722616	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72722624	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72722631	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72722638	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72722643	0.82[EUR][1000 genomes];0.80[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7366220	C1orf52	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85668000-85689000	Weak transcription	Gastric	stomach
2	chr1:85668400-85671200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:85668400-85671200	Enhancers	Hela-S3	cervix
4	chr1:85668400-85677800	Weak transcription	Right Atrium	heart
5	chr1:85668600-85672000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:85668600-85680800	Weak transcription	K562	blood
7	chr1:85668800-85671200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:85668800-85672000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:85668800-85672000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:85668800-85672000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:85668800-85672200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:85669000-85672000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:85669200-85671200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:85669600-85671200	Enhancers	Fetal Heart	heart
15	chr1:85670000-85672000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:85670400-85671200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:85670800-85679400	Weak transcription	Rectal Smooth Muscle	rectum

Quick Search:

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

what's new

Quick links