Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10214930	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10230973	0.82[EUR][1000 genomes]
rs10241783	1.00[CEU][hapmap]
rs10250333	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10268051	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11764753	0.82[CEU][hapmap]
rs17155876	0.81[EUR][1000 genomes]
rs2057998	0.82[EUR][1000 genomes]
rs2074580	0.81[EUR][1000 genomes]
rs28521509	0.81[EUR][1000 genomes]
rs42098	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs42113	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481475	1.00[CEU][hapmap]
rs4719906	0.81[EUR][1000 genomes]
rs4722740	1.00[CEU][hapmap]
rs6462042	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6462050	0.81[EUR][1000 genomes]
rs6462051	0.81[EUR][1000 genomes]
rs6970578	0.81[EUR][1000 genomes]
rs7786973	0.82[CEU][hapmap]
rs7800116	1.00[CEU][hapmap];0.81[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
rs42104	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL
rs42104	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27716400-27720800	Enhancers	HepG2	liver
2	chr7:27716800-27720800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:27717600-27721000	Enhancers	NHDF-Ad	bronchial
4	chr7:27718000-27720800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:27718600-27723800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:27719200-27726000	Weak transcription	Osteobl	bone
7	chr7:27720000-27720600	Weak transcription	HMEC	breast
8	chr7:27720200-27720600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:27720200-27720600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:27720400-27720600	Enhancers	HSMMtube	muscle
11	chr7:27720400-27721000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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