Variant report

Variant	rs1039341
Chromosome Location	chr16:48574869-48574870
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	chr16:48568622..48571251-chr16:48573389..48575034,2	K562	blood:

Extended variants
information (count: 166 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs1039340	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039342	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039343	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1106386	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11076570	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076571	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076572	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076573	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076578	0.81[EUR][1000 genomes]
rs1115758	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1115759	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1120275	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1120276	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11495819	0.82[EUR][1000 genomes]
rs11640119	0.85[ASN][1000 genomes]
rs11640463	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11641458	0.85[EUR][1000 genomes]
rs11641510	0.97[ASN][1000 genomes]
rs11643264	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11643272	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11644518	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11645193	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11647046	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11647048	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11648101	0.82[EUR][1000 genomes]
rs11649236	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11859909	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1224	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444902	0.84[ASN][1000 genomes]
rs12446280	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12597928	0.81[EUR][1000 genomes]
rs12598514	0.82[EUR][1000 genomes]
rs12933948	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12935540	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13330784	0.86[ASN][1000 genomes]
rs13331298	0.84[ASN][1000 genomes]
rs13331902	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13332125	0.86[ASN][1000 genomes]
rs13335847	0.85[EUR][1000 genomes]
rs1386040	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1386042	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477134	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1486411	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486412	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564979	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564980	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16946340	0.81[AMR][1000 genomes]
rs16946342	0.85[EUR][1000 genomes]
rs17826468	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1825683	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1872652	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1872654	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1872655	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1909765	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1987061	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2041921	0.81[EUR][1000 genomes]
rs2080507	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2080508	0.82[EUR][1000 genomes]
rs2101372	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2129243	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2354578	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2354579	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28432694	0.84[ASN][1000 genomes]
rs28481630	0.86[ASN][1000 genomes]
rs28577888	0.82[EUR][1000 genomes]
rs2883475	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2883641	0.84[ASN][1000 genomes]
rs34813315	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36077931	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743779	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743780	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817029	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826174	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3843724	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3848319	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3848320	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3848321	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3848322	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4277341	0.83[ASN][1000 genomes]
rs4471681	0.84[ASN][1000 genomes]
rs4493038	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4785247	0.84[EUR][1000 genomes]
rs4785248	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4785528	0.83[EUR][1000 genomes]
rs55671623	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55782524	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57903644	0.83[ASN][1000 genomes]
rs61098261	0.81[ASN][1000 genomes]
rs6500395	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6500396	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6500397	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6500398	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6500405	0.82[EUR][1000 genomes]
rs7184070	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7184144	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7185541	0.84[ASN][1000 genomes]
rs7187513	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188741	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191028	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191225	0.86[ASN][1000 genomes]
rs7192297	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7194570	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7195684	0.81[EUR][1000 genomes]
rs7196823	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7197732	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198145	0.84[ASN][1000 genomes]
rs7198773	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7199206	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7199625	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7201196	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7204345	0.84[ASN][1000 genomes]
rs74017013	0.84[ASN][1000 genomes]
rs8044519	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8050844	0.84[ASN][1000 genomes]
rs8052073	0.82[EUR][1000 genomes]
rs8052640	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8053598	0.86[EUR][1000 genomes]
rs8057165	0.85[EUR][1000 genomes]
rs8057777	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8058362	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8059819	0.82[EUR][1000 genomes]
rs8059905	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868792	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs871902	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924476	0.92[EUR][1000 genomes]
rs989070	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921737	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921741	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922356	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9922734	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923371	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923753	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9924078	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9924483	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9925406	0.85[EUR][1000 genomes]
rs9927888	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9928051	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9930199	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930644	0.82[AMR][1000 genomes]
rs9931123	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9931737	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9933187	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9933329	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9933976	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934626	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9934844	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9936004	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936271	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9936445	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9936446	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9936454	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9937134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937568	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9937610	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9937623	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938126	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938308	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9938890	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9939103	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941275	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941336	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][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	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
4	esv33450	chr16:48572307-48575919	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1039341	N4BP1	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48561000-48575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:48566400-48583000	Weak transcription	Fetal Brain Male	brain
3	chr16:48569400-48578000	Strong transcription	Fetal Brain Female	brain
4	chr16:48569800-48580600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:48570000-48575200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:48570400-48575000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr16:48570400-48575000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr16:48570400-48576600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:48570400-48578800	Strong transcription	Brain Germinal Matrix	brain
10	chr16:48571000-48575000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:48571000-48575800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:48571000-48580600	Weak transcription	NHDF-Ad	bronchial
13	chr16:48571200-48575000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:48571200-48575000	Strong transcription	Fetal Intestine Small	intestine
15	chr16:48571200-48576200	Weak transcription	Fetal Kidney	kidney
16	chr16:48571200-48576800	Weak transcription	Small Intestine	intestine
17	chr16:48571200-48586000	Weak transcription	NH-A	brain
18	chr16:48571200-48586800	Weak transcription	HUVEC	blood vessel
19	chr16:48571400-48576800	Weak transcription	Primary B cells from cord blood	blood
20	chr16:48571400-48576800	Weak transcription	Aorta	Aorta
21	chr16:48571600-48575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:48571600-48576800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:48571600-48578200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:48571600-48586800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:48571800-48588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr16:48572000-48575000	Weak transcription	Brain Angular Gyrus	brain
27	chr16:48572000-48575800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:48572200-48576200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:48572200-48588400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr16:48572400-48576400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:48572400-48578400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:48572400-48578800	Strong transcription	NHEK	skin
33	chr16:48572400-48585600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr16:48572400-48586000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr16:48572400-48592400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:48572600-48575000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:48572600-48575000	Weak transcription	Right Atrium	heart
38	chr16:48572600-48575200	Weak transcription	HSMMtube	muscle
39	chr16:48572600-48578400	Strong transcription	Gastric	stomach
40	chr16:48572600-48578800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr16:48572600-48580400	Strong transcription	Fetal Stomach	stomach
42	chr16:48572600-48581200	Weak transcription	Colon Smooth Muscle	Colon
43	chr16:48572600-48581400	Weak transcription	Psoas Muscle	Psoas
44	chr16:48572600-48586000	Weak transcription	K562	blood
45	chr16:48572800-48580200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:48572800-48584000	Strong transcription	Thymus	Thymus
47	chr16:48572800-48587000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:48573000-48575000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:48573000-48575000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:48573000-48575000	Weak transcription	Fetal Thymus	thymus

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