Variant report

Variant	rs12135259
Chromosome Location	chr1:113781676-113781677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11102605	0.84[EUR][1000 genomes]
rs12129081	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12138560	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12146020	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12730687	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1886503	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6688859	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6698871	1.00[AMR][1000 genomes];0.98[EUR][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

No data

Chromatin state (count:8 , 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	chr1:113775200-113782600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:113779600-113782600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:113779800-113781800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:113780000-113784000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:113780200-113786800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:113781600-113785000	Weak transcription	K562	blood
8	chr1:113781600-113786400	Weak transcription	Gastric	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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