Variant report

Variant	rs12434085
Chromosome Location	chr14:64807280-64807281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr14:64807262-64808302	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64804489..64807619-chr14:64853862..64856673,3	MCF-7	breast:
2	chr14:64803480..64807605-chr14:64853546..64855883,4	K562	blood:
3	chr14:64805958..64807632-chr20:17947706..17950221,2	MCF-7	breast:
4	chr14:64373323..64375325-chr14:64805642..64807746,2	MCF-7	breast:
5	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
6	chr1:1003223..1005342-chr14:64805694..64807322,2	MCF-7	breast:
7	chr14:64803146..64808978-chr14:64966714..64972227,18	MCF-7	breast:
8	chr14:64805277..64807766-chr14:64933361..64935594,3	MCF-7	breast:
9	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
10	chr14:64803252..64809099-chr14:64968512..64973071,12	K562	blood:

No data

Variant related genes	Relation type
ESR2	TF binding region
ENSG00000214770	TF binding region
ENSG00000089775	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000089006	Chromatin interaction
ENSG00000125871	Chromatin interaction
ENSG00000179841	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10483774	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12100658	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12434779	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12435278	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12435307	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12435338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436020	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12436302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12436325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12437063	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437103	1.00[AMR][1000 genomes]
rs1571512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17226046	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17226060	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17226081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952586	0.85[ASN][1000 genomes]
rs1956546	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28402888	0.92[ASN][1000 genomes]
rs28435160	0.92[ASN][1000 genomes]
rs28485225	0.93[ASN][1000 genomes]
rs28499370	0.91[ASN][1000 genomes]
rs28533821	0.92[ASN][1000 genomes]
rs28630894	0.89[ASN][1000 genomes]
rs34051517	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34422347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36108515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742614	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3783733	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783735	0.95[ASN][1000 genomes]
rs3829768	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56735213	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58262369	0.91[AMR][1000 genomes]
rs59216189	0.95[ASN][1000 genomes]
rs59677654	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573551	0.84[ASN][1000 genomes]
rs67160339	0.92[ASN][1000 genomes]
rs8019025	0.92[ASN][1000 genomes]
rs9788441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64806200-64807400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:64806200-64807800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr14:64806200-64809000	Weak transcription	Brain Angular Gyrus	brain
4	chr14:64806200-64819200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:64806400-64807400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:64806400-64807400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:64806400-64807400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:64806400-64809400	Weak transcription	Brain Germinal Matrix	brain
9	chr14:64806400-64809600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:64806400-64809800	Weak transcription	Pancreas	Pancrea
11	chr14:64806600-64807400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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