Variant report

Variant	rs6462044
Chromosome Location	chr7:27743841-27743842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27740264..27742549-chr7:27743332..27746196,2	K562	blood:
2	chr7:27741492..27744405-chr7:27746292..27747950,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10249314	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1029604	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11540483	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11761718	0.80[CEU][hapmap]
rs11761773	1.00[CEU][hapmap]
rs11762056	0.80[CEU][hapmap]
rs11764419	0.80[CEU][hapmap]
rs11764624	0.80[CEU][hapmap]
rs11772163	0.80[CEU][hapmap]
rs1468443	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17607303	0.80[CEU][hapmap]
rs17680908	0.80[CEU][hapmap]
rs17683094	0.80[CEU][hapmap]
rs215	1.00[ASW][hapmap]
rs2158892	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs42090	0.80[CEU][hapmap];0.80[AMR][1000 genomes]
rs42093	0.80[CEU][hapmap]
rs42097	0.80[CEU][hapmap]
rs42114	0.80[AMR][1000 genomes]
rs4719905	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4722731	1.00[EUR][1000 genomes]
rs4722736	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4722738	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56070801	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60426718	0.87[EUR][1000 genomes]
rs62454911	0.80[AMR][1000 genomes]
rs62454912	0.80[AMR][1000 genomes]
rs62454913	0.80[AMR][1000 genomes]
rs6462045	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6960451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6969516	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6970160	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073375	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73073377	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73073379	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73073380	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73073387	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73073388	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73073393	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075112	0.80[AMR][1000 genomes]
rs73075307	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075310	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075311	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075322	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075325	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075329	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075331	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075354	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075359	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075361	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73075375	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73075378	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73078776	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73078778	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73083352	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73083361	0.82[AMR][1000 genomes]
rs73083363	0.82[AMR][1000 genomes]
rs73083364	0.82[AMR][1000 genomes]
rs73083371	0.82[AMR][1000 genomes]
rs73083377	0.82[AMR][1000 genomes]
rs73083378	0.82[AMR][1000 genomes]
rs7790914	1.00[CEU][hapmap]
rs7795207	0.80[CEU][hapmap]
rs7807729	0.93[AMR][1000 genomes];0.95[EUR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6462044	ZNRF2	cis	cerebellum	SCAN
rs6462044	HIBADH	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27738200-27749000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:27742200-27744400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:27742400-27745800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:27743200-27744400	Weak transcription	Osteobl	bone
5	chr7:27743200-27744800	Enhancers	HSMM	muscle

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