Variant report

Variant	rs12029131
Chromosome Location	chr1:213743906-213743907
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10864052	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1371291	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2218115	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs320391	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs320392	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs400857	0.91[EUR][1000 genomes]
rs4072954	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs412878	0.91[EUR][1000 genomes]
rs420627	0.91[EUR][1000 genomes]
rs4297263	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs436112	0.91[EUR][1000 genomes]
rs4655298	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4655299	0.92[EUR][1000 genomes]
rs6540792	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7545069	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832525	chr1:213580476-213782815	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3345878	chr1:213714352-213841547	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3426755	chr1:213714443-213841514	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3378592	chr1:213714463-213841484	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213732800-213744200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:213741000-213748200	Enhancers	HepG2	liver
3	chr1:213741400-213744200	Enhancers	Fetal Intestine Small	intestine
4	chr1:213742200-213746000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:213742600-213746400	Weak transcription	Pancreas	Pancrea
6	chr1:213743200-213744200	Enhancers	Small Intestine	intestine
7	chr1:213743200-213744400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:213743400-213744600	Weak transcription	Fetal Intestine Large	intestine
9	chr1:213743600-213744400	Enhancers	HSMM	muscle
10	chr1:213743600-213746800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:213743800-213746000	Weak transcription	Rectal Mucosa Donor 31	rectum

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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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