Variant report

Variant	rs11612462
Chromosome Location	chr12:104411368-104411369
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11111869	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11111871	0.99[ASN][1000 genomes]
rs11553764	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35129235	0.98[ASN][1000 genomes]
rs66613683	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177961	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104405600-104414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104405600-104414400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:104405600-104415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:104406800-104417200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:104407000-104412600	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:104408800-104416200	Weak transcription	Fetal Lung	lung
7	chr12:104408800-104417400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:104408800-104428000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:104408800-104442200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:104409000-104416000	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:104409200-104414600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:104409400-104416200	Weak transcription	Fetal Stomach	stomach
13	chr12:104409400-104421200	Weak transcription	Ovary	ovary
14	chr12:104410000-104415200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:104410000-104417600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:104410600-104411800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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