Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80149028..80151901-chr16:80155425..80157730,2	K562	blood:

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10514483	0.96[EUR][1000 genomes]
rs11150246	0.82[ASN][1000 genomes]
rs11866315	0.86[ASN][1000 genomes]
rs12444051	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1842021	0.98[EUR][1000 genomes]
rs1975949	0.84[ASN][1000 genomes]
rs2007682	0.81[JPT][hapmap]
rs2009458	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2016178	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2016205	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4889105	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564741	0.90[ASN][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	nsv906995	chr16:80094975-80166677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1055982	chr16:80151604-80202923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1110761	NUDT7	cis	parietal	SCAN
rs1110761	CHST6	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80151800-80159600	Weak transcription	Adipose Nuclei	Adipose
2	chr16:80154400-80156800	Enhancers	Brain Germinal Matrix	brain
3	chr16:80154800-80156800	Enhancers	Fetal Stomach	stomach
4	chr16:80155000-80156800	Enhancers	Fetal Lung	lung
5	chr16:80155200-80157400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:80156000-80157200	Enhancers	Ovary	ovary
7	chr16:80156000-80157800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:80156200-80157200	Enhancers	Colon Smooth Muscle	Colon
9	chr16:80156200-80158000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:80156200-80158000	Enhancers	NH-A	brain
11	chr16:80156400-80156800	Enhancers	Rectal Smooth Muscle	rectum
12	chr16:80156400-80157400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:80156400-80157400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:80156400-80157600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:80156400-80159000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:80156400-80159000	Weak transcription	HSMMtube	muscle
17	chr16:80156600-80157000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:80156600-80157400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr16:80156600-80157400	Flanking Active TSS	NHDF-Ad	bronchial
20	chr16:80156600-80157600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:80156600-80157800	Enhancers	Osteobl	bone

Quick Search: