Variant report

Variant	rs12135815
Chromosome Location	chr1:170168487-170168488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12116611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12116788	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12120968	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12126954	1.00[EUR][1000 genomes]
rs12130116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12132179	1.00[EUR][1000 genomes]
rs12132530	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12132575	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12135203	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12140845	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12141965	1.00[EUR][1000 genomes]
rs2150114	1.00[EUR][1000 genomes]
rs2421112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41272485	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs534412	1.00[EUR][1000 genomes]
rs56147946	0.89[AMR][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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	esv3693321	chr1:170167702-170188648	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12135815	C1orf156	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170164600-170169400	Weak transcription	Osteobl	bone
2	chr1:170165200-170169400	Weak transcription	NHDF-Ad	bronchial
3	chr1:170166200-170169000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:170166200-170169400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:170166200-170169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:170168000-170169000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:170168200-170171600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:170168400-170170200	Weak transcription	Liver	Liver

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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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