Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1014570	0.83[YRI][hapmap]
rs1014572	0.83[YRI][hapmap]
rs1019288	0.91[LWK][hapmap];0.93[MKK][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes]
rs1019290	0.89[MKK][hapmap];0.80[YRI][hapmap]
rs1030018	0.83[YRI][hapmap]
rs10951557	0.80[YRI][hapmap]
rs12535314	0.86[YRI][hapmap]
rs17171372	0.80[YRI][hapmap]
rs17171383	0.80[YRI][hapmap]
rs2196677	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196679	0.87[ASW][hapmap];0.81[LWK][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs2284255	0.83[YRI][hapmap]
rs3807417	0.86[YRI][hapmap]
rs3807420	0.83[YRI][hapmap]
rs4723759	0.83[YRI][hapmap]
rs4723760	0.80[YRI][hapmap]
rs6462846	0.87[ASW][hapmap];0.90[YRI][hapmap]
rs6462847	0.87[ASW][hapmap];0.90[YRI][hapmap]
rs6950276	0.80[YRI][hapmap]
rs6969360	0.83[YRI][hapmap]
rs6970073	0.90[YRI][hapmap]
rs6972241	0.86[YRI][hapmap]
rs722335	0.89[MKK][hapmap];0.80[YRI][hapmap]
rs73120296	0.95[AFR][1000 genomes]
rs7777361	0.90[YRI][hapmap]
rs7808755	0.86[YRI][hapmap]
rs7809200	0.86[YRI][hapmap]
rs7811329	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2043785	AMPH	cis	normal skin	skin_eQTL
rs2043785	AMPH	cis	Muscle Skeletal	GTEx
rs2043785	AMPH	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38502600-38549400	Weak transcription	Fetal Stomach	stomach
2	chr7:38502800-38533800	Weak transcription	Aorta	Aorta
3	chr7:38524000-38543400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:38524200-38545000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:38528600-38553000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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