Variant report

Variant	rs2527055
Chromosome Location	chr7:147737152-147737153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10264997	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10280388	0.92[MEX][hapmap]
rs10281082	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10485848	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10952723	0.96[MEX][hapmap]
rs10952725	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10952726	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10952727	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11764815	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12531913	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12532338	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap]
rs12532341	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.80[MEX][hapmap];0.92[TSI][hapmap]
rs12667149	0.96[MEX][hapmap]
rs12671605	0.84[MEX][hapmap]
rs12703990	0.94[CHB][hapmap];0.97[CHD][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs12703991	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12703992	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs17546472	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1990057	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs1990058	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[TSI][hapmap]
rs2214680	1.00[CEU][hapmap];0.94[CHB][hapmap]
rs2373314	1.00[CEU][hapmap];0.94[CHB][hapmap]
rs2373316	1.00[CEU][hapmap];0.94[CHB][hapmap]
rs2527047	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2527052	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2527054	0.81[EUR][1000 genomes]
rs2527058	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2527059	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2527060	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2527062	1.00[CHB][hapmap]
rs2527063	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2527064	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2527065	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2527066	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2527068	1.00[CHB][hapmap]
rs2707558	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707561	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707565	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707582	0.89[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2707583	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs2710137	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2710143	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2710144	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2710145	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2710152	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2888540	0.88[MEX][hapmap]
rs2888547	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap]
rs4262258	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4296960	0.88[MEX][hapmap]
rs4571660	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4726900	0.84[MEX][hapmap]
rs4726913	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4726914	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4726916	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965599	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs757697	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757698	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7797264	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023913	chr7:147521075-147806318	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1026058	chr7:147521109-147783042	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv539179	chr7:147521109-147783042	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv934002	chr7:147521110-147807705	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017610	chr7:147523752-147806427	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2527055	ACCN3	cis	cerebellum	SCAN
rs2527055	EZH2	cis	cerebellum	SCAN
rs2527055	ZNF425	cis	parietal	SCAN
rs2527055	SMARCD3	cis	parietal	SCAN
rs2527055	CUL1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147736600-147738200	Enhancers	Brain Substantia Nigra	brain
2	chr7:147736800-147737600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:147736800-147740200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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