Variant report

Variant	rs12130720
Chromosome Location	chr1:179906698-179906699
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179906513..179911873-chr1:179922155..179925771,5	K562	blood:
2	chr1:179899680..179902372-chr1:179905754..179907325,2	K562	blood:
3	chr1:179850926..179852499-chr1:179905146..179907597,2	MCF-7	breast:
4	chr1:179896181..179898748-chr1:179905765..179908705,2	MCF-7	breast:
5	chr1:179904160..179906829-chr1:179911377..179913014,2	K562	blood:
6	chr1:179898424..179901062-chr1:179905240..179907123,2	MCF-7	breast:
7	chr1:179901782..179903357-chr1:179905596..179908288,2	K562	blood:
8	chr1:179906042..179908013-chr1:179920844..179923760,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000135837	Chromatin interaction
ENSG00000272906	Chromatin interaction
ENSG00000143337	Chromatin interaction
ENSG00000260360	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10913920	0.83[EUR][1000 genomes]
rs12130673	0.83[EUR][1000 genomes]
rs12131200	0.83[EUR][1000 genomes]
rs12133136	0.83[EUR][1000 genomes]
rs12141134	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17299006	0.83[EUR][1000 genomes]
rs9701232	0.83[EUR][1000 genomes]
rs9701237	0.89[AMR][1000 genomes];0.85[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	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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	48 gene(s)	inside rSNPs	diseases
4	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12130720	CEP350	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179902000-179907800	Weak transcription	Stomach Mucosa	stomach
2	chr1:179902200-179906800	Weak transcription	Hela-S3	cervix
3	chr1:179905000-179907000	Enhancers	GM12878-XiMat	blood
4	chr1:179905800-179910600	Weak transcription	K562	blood

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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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