Variant report

Variant	rs960070
Chromosome Location	chr14:64745179-64745180
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10143616	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1152578	0.80[CEU][hapmap]
rs12101211	0.92[ASN][1000 genomes]
rs1256030	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1256031	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1256033	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1256040	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs17101765	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs17179740	0.80[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs3020444	0.80[CHB][hapmap]
rs3020450	0.85[JPT][hapmap]
rs3783736	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs6573552	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573553	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7154455	0.87[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs8011682	0.82[ASN][1000 genomes]
rs8020356	0.93[ASN][1000 genomes]
rs960069	0.80[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	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
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1307	chr14:64742037-64787315	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs960070	ESR2	cis	Skin Sun Exposed Lower leg	GTEx
rs960070	SYNE2	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64727600-64757600	Weak transcription	Ovary	ovary
2	chr14:64735400-64757200	Weak transcription	Thymus	Thymus
3	chr14:64743800-64745200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:64743800-64745600	Enhancers	HUVEC	blood vessel
5	chr14:64744800-64745800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:64744800-64746200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:64745000-64745400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:64745000-64745600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:64745000-64746000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:64745000-64746000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:64745000-64746000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:64745000-64746800	Enhancers	H1 Cell Line	embryonic stem cell

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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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