Variant report

Variant	rs2527049
Chromosome Location	chr7:147742084-147742085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10240221	0.84[CHB][hapmap]
rs10808049	1.00[CHB][hapmap]
rs17170800	1.00[YRI][hapmap]
rs17170802	1.00[YRI][hapmap]
rs2178771	0.91[MKK][hapmap]
rs2189883	0.80[MKK][hapmap]
rs2527051	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2527054	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2707560	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2707563	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2707582	0.84[TSI][hapmap]
rs2710127	0.86[CHB][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2710132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2710135	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2710157	0.95[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4571659	0.92[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4725758	0.84[CHB][hapmap]
rs4726912	0.92[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4726918	0.88[ASN][1000 genomes]
rs6942912	0.84[CHB][hapmap]
rs6949561	0.84[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs6969904	0.84[CHB][hapmap]
rs6970083	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs757696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961519	0.92[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs993715	0.92[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[TSI][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2527049	CRYGN	cis	parietal	SCAN
rs2527049	OR6B1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147738400-147748000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:147741800-147742200	Active TSS	Hela-S3	cervix
3	chr7:147742000-147742200	Flanking Active TSS	Pancreas	Pancrea
4	chr7:147742000-147742600	Enhancers	Gastric	stomach

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