Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47392715..47394809-chr12:47397505..47399987,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10785649	0.87[EUR][1000 genomes]
rs10881023	0.87[EUR][1000 genomes]
rs10881025	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11183695	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11183699	0.82[CEU][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11183711	0.81[EUR][1000 genomes]
rs1989912	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2408647	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2522258	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2522263	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2522269	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2522275	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2522277	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2711695	0.87[EUR][1000 genomes]
rs2711699	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2711702	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4291756	0.80[ASN][1000 genomes]
rs4768769	0.87[EUR][1000 genomes]
rs7139072	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7305283	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7971310	0.82[CEU][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7972871	0.83[EUR][1000 genomes]
rs7978006	0.87[EUR][1000 genomes]
rs7979771	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2263492	SLC38A4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47391800-47394000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:47392000-47393400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:47392000-47394000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:47392400-47393400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:47392400-47393400	Enhancers	NHEK	skin
6	chr12:47392400-47393400	Enhancers	Osteobl	bone
7	chr12:47392400-47393800	Enhancers	HSMM	muscle
8	chr12:47392600-47393400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:47393000-47393400	Enhancers	NH-A	brain

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