Variant report

Variant	rs6757393
Chromosome Location	chr2:53868497-53868498
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10865275	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11125515	0.93[ASN][1000 genomes]
rs11682721	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684084	0.86[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs11889094	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11902691	0.92[ASN][1000 genomes]
rs12611475	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620583	0.88[ASN][1000 genomes]
rs12621225	0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs13414216	0.82[JPT][hapmap]
rs13428898	0.87[EUR][1000 genomes]
rs2080715	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2111623	0.81[JPT][hapmap]
rs2160929	0.91[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs2193682	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2193683	0.82[ASN][1000 genomes]
rs2542584	0.82[JPT][hapmap]
rs2542585	0.81[JPT][hapmap]
rs2542588	0.81[JPT][hapmap]
rs2692532	0.81[JPT][hapmap]
rs2692536	0.81[JPT][hapmap]
rs2949812	0.82[JPT][hapmap]
rs56081372	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56291505	0.92[ASN][1000 genomes]
rs62139772	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62139780	0.92[ASN][1000 genomes]
rs62139783	0.89[ASN][1000 genomes]
rs62139835	0.88[ASN][1000 genomes]
rs6713107	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6714891	0.92[ASN][1000 genomes]
rs6727876	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6728355	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6741239	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6743627	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7556791	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7557799	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs7557898	0.85[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs7563054	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs7584474	0.88[ASN][1000 genomes]
rs7587217	0.88[ASN][1000 genomes]
rs7596349	0.80[JPT][hapmap]
rs7601692	0.81[JPT][hapmap]
rs805438	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv874146	chr2:53772561-53872803	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv874147	chr2:53772561-53886799	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2762637	chr2:53783253-53871596	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1008117	chr2:53791985-53869651	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv535719	chr2:53791985-53869651	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6757393	ACYP2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53857400-53868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53865000-53870000	Weak transcription	Fetal Brain Male	brain
3	chr2:53868000-53869000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:53868200-53868600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:53868200-53869400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:53868200-53869800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:53868400-53869000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:53868400-53869000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:53868400-53869400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:53868400-53869600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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