Variant report

Variant	rs12315232
Chromosome Location	chr12:67753675-67753676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11176632	1.00[AMR][1000 genomes]
rs11176648	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176649	1.00[AMR][1000 genomes]
rs12301230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301290	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302524	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305775	1.00[AMR][1000 genomes]
rs12312066	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322809	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377685	1.00[AMR][1000 genomes]
rs1731770	1.00[AMR][1000 genomes]
rs17854617	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2700056	1.00[AMR][1000 genomes]
rs2700061	1.00[AMR][1000 genomes]
rs2700063	1.00[AMR][1000 genomes]
rs28545106	1.00[AMR][1000 genomes]
rs28677001	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35314758	1.00[AMR][1000 genomes]
rs7298233	1.00[AMR][1000 genomes]
rs7967952	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9652023	0.81[AFR][1000 genomes];1.00[AMR][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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67733800-67761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67741800-67759200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67748000-67753800	Enhancers	HSMM	muscle
4	chr12:67751200-67754000	Enhancers	Fetal Muscle Leg	muscle
5	chr12:67751400-67753800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:67751400-67753800	Enhancers	NHDF-Ad	bronchial
7	chr12:67752800-67753800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:67753200-67753800	Flanking Active TSS	HSMMtube	muscle
9	chr12:67753200-67754000	Enhancers	Dnd41	blood
10	chr12:67753400-67753800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:67753400-67764400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:67753600-67753800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:67753600-67758600	Weak transcription	Osteobl	bone
14	chr12:67753600-67759400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:67753600-67759600	Weak transcription	NHLF	lung

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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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