Variant report

Variant	rs773619
Chromosome Location	chr1:113786107-113786108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11102603	0.81[AMR][1000 genomes]
rs12410629	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs773601	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs773603	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs773615	0.81[ASN][1000 genomes]
rs773616	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs773617	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs773620	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs796472	0.84[AMR][1000 genomes];0.96[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
rs773619	CDKN1A	trans	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113761000-113790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:113780200-113786800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:113781600-113786400	Weak transcription	Gastric	stomach
4	chr1:113784000-113788400	Enhancers	Fetal Intestine Large	intestine
5	chr1:113784000-113788400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:113784000-113790800	Enhancers	Fetal Intestine Small	intestine
7	chr1:113784400-113787400	Weak transcription	Ovary	ovary
8	chr1:113785000-113786600	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:113785200-113786800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:113785400-113786400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:113785400-113787000	Weak transcription	Pancreas	Pancrea
12	chr1:113785400-113788200	Weak transcription	Esophagus	oesophagus
13	chr1:113785400-113789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:113785800-113787600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr1:113786000-113788600	Weak transcription	Stomach Mucosa	stomach

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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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