Variant report

Variant	rs8057165
Chromosome Location	chr16:48563467-48563468
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:48400137..48401796-chr16:48562569..48565251,2	MCF-7	breast:
2	chr16:48562124..48563950-chr16:48565271..48567910,2	K562	blood:
3	chr16:48418963..48421411-chr16:48561943..48564275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1039340	0.85[EUR][1000 genomes]
rs1039341	0.85[EUR][1000 genomes]
rs1039342	0.85[EUR][1000 genomes]
rs1039343	0.85[EUR][1000 genomes]
rs1039344	0.84[EUR][1000 genomes]
rs1106386	0.85[EUR][1000 genomes]
rs11076570	0.84[EUR][1000 genomes]
rs11076571	0.84[EUR][1000 genomes]
rs11076572	0.83[EUR][1000 genomes]
rs11076573	0.81[EUR][1000 genomes]
rs1115758	0.85[EUR][1000 genomes]
rs1115759	0.84[EUR][1000 genomes]
rs1120275	0.84[EUR][1000 genomes]
rs1120276	0.85[EUR][1000 genomes]
rs11640463	0.80[EUR][1000 genomes]
rs11641458	0.81[EUR][1000 genomes]
rs11643264	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11643272	0.80[EUR][1000 genomes]
rs11644518	0.84[EUR][1000 genomes]
rs11645193	0.84[EUR][1000 genomes]
rs11647046	0.83[EUR][1000 genomes]
rs11647048	0.84[EUR][1000 genomes]
rs11649236	0.81[EUR][1000 genomes]
rs11859909	0.81[EUR][1000 genomes]
rs1224	0.87[EUR][1000 genomes]
rs12935540	0.82[EUR][1000 genomes]
rs1386040	0.81[EUR][1000 genomes]
rs1386042	0.84[EUR][1000 genomes]
rs1486411	0.85[EUR][1000 genomes]
rs1486412	0.80[EUR][1000 genomes]
rs16946342	0.80[EUR][1000 genomes]
rs17826468	0.85[EUR][1000 genomes]
rs1825683	0.81[EUR][1000 genomes]
rs1872655	0.81[EUR][1000 genomes]
rs1909765	0.85[EUR][1000 genomes]
rs2101372	0.83[EUR][1000 genomes]
rs2354578	0.85[EUR][1000 genomes]
rs2354579	0.85[EUR][1000 genomes]
rs2883475	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36077931	0.85[EUR][1000 genomes]
rs3743779	0.86[EUR][1000 genomes]
rs3743780	0.80[EUR][1000 genomes]
rs3817029	0.85[EUR][1000 genomes]
rs3826174	0.85[EUR][1000 genomes]
rs3843724	0.83[EUR][1000 genomes]
rs3848319	0.85[EUR][1000 genomes]
rs3848320	0.80[EUR][1000 genomes]
rs3848321	0.85[EUR][1000 genomes]
rs3848322	0.84[EUR][1000 genomes]
rs55671623	0.81[EUR][1000 genomes]
rs55782524	0.90[EUR][1000 genomes]
rs6500395	0.84[EUR][1000 genomes]
rs6500396	0.83[EUR][1000 genomes]
rs6500398	0.80[EUR][1000 genomes]
rs7184144	0.86[EUR][1000 genomes]
rs7187513	0.85[EUR][1000 genomes]
rs7188741	0.85[EUR][1000 genomes]
rs7191028	0.84[EUR][1000 genomes]
rs7196823	0.83[EUR][1000 genomes]
rs7197732	0.86[EUR][1000 genomes]
rs7198773	0.86[EUR][1000 genomes]
rs8044519	0.81[EUR][1000 genomes]
rs8052640	0.84[EUR][1000 genomes]
rs8053598	0.81[EUR][1000 genomes]
rs8057777	0.85[EUR][1000 genomes]
rs8058362	0.80[EUR][1000 genomes]
rs8059905	0.80[EUR][1000 genomes]
rs868792	0.80[EUR][1000 genomes]
rs871902	0.85[EUR][1000 genomes]
rs924476	0.90[EUR][1000 genomes]
rs989070	0.84[EUR][1000 genomes]
rs9921737	0.84[EUR][1000 genomes]
rs9921741	0.84[EUR][1000 genomes]
rs9922734	0.85[EUR][1000 genomes]
rs9923371	0.81[EUR][1000 genomes]
rs9923753	0.81[EUR][1000 genomes]
rs9924078	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9925406	0.81[EUR][1000 genomes]
rs9927888	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9928051	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9930199	0.87[EUR][1000 genomes]
rs9931123	0.84[EUR][1000 genomes]
rs9931737	0.83[EUR][1000 genomes]
rs9933187	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9933976	0.85[EUR][1000 genomes]
rs9934626	0.84[EUR][1000 genomes]
rs9936004	0.86[EUR][1000 genomes]
rs9936271	0.84[EUR][1000 genomes]
rs9936445	0.84[EUR][1000 genomes]
rs9936454	0.84[EUR][1000 genomes]
rs9937134	0.85[EUR][1000 genomes]
rs9937568	0.83[EUR][1000 genomes]
rs9937610	0.81[EUR][1000 genomes]
rs9937623	0.86[EUR][1000 genomes]
rs9938126	0.86[EUR][1000 genomes]
rs9938308	0.84[EUR][1000 genomes]
rs9938890	0.86[EUR][1000 genomes]
rs9939103	0.85[EUR][1000 genomes]
rs9941275	0.86[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
rs8057165	N4BP1	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 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	chr16:48560800-48565000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr16:48561000-48569400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:48561000-48569400	Weak transcription	Colonic Mucosa	Colon
7	chr16:48561000-48570200	Weak transcription	Fetal Intestine Small	intestine
8	chr16:48561000-48574400	Weak transcription	Fetal Intestine Large	intestine
9	chr16:48561000-48575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:48561200-48565600	Weak transcription	Stomach Mucosa	stomach
11	chr16:48561400-48565000	Weak transcription	HepG2	liver
12	chr16:48562600-48565400	Weak transcription	Placenta	Placenta

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