Variant report

Variant	rs8057605
Chromosome Location	chr16:48565569-48565570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48562124..48563950-chr16:48565271..48567910,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12918232	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1345439	1.00[JPT][hapmap]
rs17754748	0.83[ASN][1000 genomes]
rs2047601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2354580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3103015	1.00[JPT][hapmap]
rs3785138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4028695	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs4315324	0.86[AMR][1000 genomes]
rs6500392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500393	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8046716	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9930255	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1064323	chr16:48531171-48573066	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1060196	chr16:48531171-48578101	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8057605	N4BP1	cis	multi-tissue	Pritchard

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48559200-48565600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:48559200-48571600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr16:48559600-48570400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:48561000-48569400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:48561000-48569400	Weak transcription	Colonic Mucosa	Colon
6	chr16:48561000-48570200	Weak transcription	Fetal Intestine Small	intestine
7	chr16:48561000-48574400	Weak transcription	Fetal Intestine Large	intestine
8	chr16:48561000-48575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:48561200-48565600	Weak transcription	Stomach Mucosa	stomach
10	chr16:48564000-48570400	Weak transcription	Thymus	Thymus
11	chr16:48564600-48566200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr16:48564800-48566600	Enhancers	Fetal Muscle Trunk	muscle
13	chr16:48564800-48566600	Enhancers	Fetal Muscle Leg	muscle
14	chr16:48565000-48566200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr16:48565000-48566200	Enhancers	HepG2	liver
16	chr16:48565000-48566400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:48565000-48566400	Enhancers	Psoas Muscle	Psoas
18	chr16:48565000-48566400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr16:48565200-48565600	Enhancers	Adipose Nuclei	Adipose
20	chr16:48565200-48565800	Enhancers	HSMM	muscle
21	chr16:48565200-48566200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:48565200-48566200	Enhancers	Fetal Lung	lung
23	chr16:48565200-48566200	Enhancers	NHLF	lung
24	chr16:48565200-48566400	Enhancers	Fetal Stomach	stomach
25	chr16:48565200-48566400	Enhancers	NHDF-Ad	bronchial
26	chr16:48565400-48565600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:48565400-48565800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:48565400-48565800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:48565400-48565800	Enhancers	Placenta	Placenta
30	chr16:48565400-48566200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:48565400-48566200	Enhancers	Stomach Smooth Muscle	stomach
32	chr16:48565400-48568400	Weak transcription	Lung	lung
33	chr16:48565400-48569400	Weak transcription	Fetal Thymus	thymus

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