Variant report

Variant	rs12138560
Chromosome Location	chr1:113787866-113787867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11102605	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12135259	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12146020	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12730687	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1886503	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2147599	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6688859	0.82[EUR][1000 genomes]
rs6698871	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs773618	0.84[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

No data

Chromatin state (count:13 , 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	chr1:113784000-113788400	Enhancers	Fetal Intestine Large	intestine
3	chr1:113784000-113788400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:113784000-113790800	Enhancers	Fetal Intestine Small	intestine
5	chr1:113785400-113788200	Weak transcription	Esophagus	oesophagus
6	chr1:113785400-113789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:113786000-113788600	Weak transcription	Stomach Mucosa	stomach
8	chr1:113786600-113789800	Weak transcription	Colonic Mucosa	Colon
9	chr1:113786600-113795200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:113787000-113796400	Enhancers	Pancreas	Pancrea
11	chr1:113787200-113789200	Weak transcription	Gastric	stomach
12	chr1:113787600-113789600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:113787800-113789200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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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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