Variant report

Variant	rs773617
Chromosome Location	chr1:113793455-113793456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12065907	0.81[EUR][1000 genomes]
rs773615	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs773616	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773618	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs773619	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs773620	0.84[ASN][1000 genomes]
rs796472	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs773617	CDKN1A	trans	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113786600-113795200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:113787000-113796400	Enhancers	Pancreas	Pancrea
3	chr1:113790400-113795000	Weak transcription	Gastric	stomach
4	chr1:113790600-113794800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:113790800-113794600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:113790800-113796000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:113791200-113795000	Weak transcription	Colonic Mucosa	Colon
8	chr1:113791400-113794800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:113791400-113798400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:113791600-113793800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:113792000-113794000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:113792600-113794200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:113793400-113794200	Enhancers	Ovary	ovary

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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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