Variant report

Variant	rs11644518
Chromosome Location	chr16:48616789-48616790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48614592..48618348-chr16:48643545..48645328,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102921	Chromatin interaction

Extended variants
information (count: 161 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs1039340	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039341	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039342	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039343	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039344	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1106386	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11076570	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11076571	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11076572	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11076573	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11076578	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1115758	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1115759	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1120275	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1120276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11495819	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11640119	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11640463	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11641458	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11641510	0.98[ASN][1000 genomes]
rs11643264	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11643272	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11645193	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11647046	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11647048	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11648101	0.82[EUR][1000 genomes]
rs11649236	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11859909	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1224	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12444902	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12446280	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12597928	0.83[EUR][1000 genomes]
rs12598514	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12933948	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12935540	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13330784	0.87[ASN][1000 genomes]
rs13331298	0.87[ASN][1000 genomes]
rs13331902	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13332125	0.87[ASN][1000 genomes]
rs13335847	0.85[EUR][1000 genomes]
rs1386040	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1386042	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477134	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1486411	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1486412	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1564979	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1564980	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16946342	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17826468	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1825683	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1872652	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1872654	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1872655	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1909765	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1987061	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2041921	0.83[EUR][1000 genomes]
rs2080507	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2080508	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2101372	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2129243	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2354578	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2354579	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28432694	0.85[ASN][1000 genomes]
rs28481630	0.87[ASN][1000 genomes]
rs28577888	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2883475	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2883641	0.85[ASN][1000 genomes]
rs34813315	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36077931	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743779	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743780	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3817029	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826174	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3843724	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3848319	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3848320	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3848321	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3848322	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4277341	0.84[ASN][1000 genomes]
rs4471681	0.85[ASN][1000 genomes]
rs4493038	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4785247	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4785248	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4785528	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55671623	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55782524	0.91[EUR][1000 genomes]
rs57903644	0.84[ASN][1000 genomes]
rs61098261	0.82[ASN][1000 genomes]
rs6500395	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6500396	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6500397	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6500398	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6500405	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7184070	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7184144	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7185541	0.85[ASN][1000 genomes]
rs7185899	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7187513	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7188741	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7191028	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7191225	0.87[ASN][1000 genomes]
rs7192297	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7194570	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7195684	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7196823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7197732	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7198145	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7198773	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7199206	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7199625	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7201196	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7204345	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs74017013	0.85[ASN][1000 genomes]
rs8044519	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8050844	0.85[ASN][1000 genomes]
rs8052073	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8052640	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8053598	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8057165	0.84[EUR][1000 genomes]
rs8057777	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8058362	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8059819	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8059905	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs868792	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs871902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs924476	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs989070	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9921737	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9921741	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9922356	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9922734	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9923371	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9923753	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9924078	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9924483	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9925406	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9927888	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9928051	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9930199	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9931123	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9931737	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9933187	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9933329	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9933976	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9934626	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9934844	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9936004	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9936271	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9936445	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9936446	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9936454	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9937134	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9937568	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9937610	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9937623	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938126	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938308	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938890	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9939103	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941275	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941336	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11644518	N4BP1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48583800-48617800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:48591400-48617200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:48594000-48617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr16:48595200-48624000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:48596000-48624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:48596400-48617200	Weak transcription	NH-A	brain
7	chr16:48596800-48624400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr16:48605000-48630200	Weak transcription	Spleen	Spleen
9	chr16:48609800-48624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:48609800-48624200	Weak transcription	Fetal Thymus	thymus
11	chr16:48609800-48624400	Weak transcription	Thymus	Thymus
12	chr16:48610000-48617800	Weak transcription	Fetal Heart	heart
13	chr16:48610400-48617200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr16:48611000-48624400	Weak transcription	Psoas Muscle	Psoas
15	chr16:48611000-48624400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr16:48611400-48617200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:48611400-48617800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:48611600-48617200	Weak transcription	Osteobl	bone
19	chr16:48611800-48626000	Weak transcription	Aorta	Aorta
20	chr16:48612000-48619200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:48612200-48624200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:48612400-48617200	Weak transcription	Right Atrium	heart
23	chr16:48612400-48621000	Weak transcription	Ovary	ovary
24	chr16:48612400-48624400	Weak transcription	Esophagus	oesophagus
25	chr16:48612400-48630200	Weak transcription	Gastric	stomach
26	chr16:48612800-48618400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:48613000-48620000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr16:48613200-48617800	Weak transcription	Right Ventricle	heart
29	chr16:48613200-48621000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:48615000-48617600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:48615200-48624400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr16:48615600-48622600	Weak transcription	HUVEC	blood vessel
33	chr16:48615600-48624400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:48615600-48624400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr16:48615800-48616800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:48615800-48618000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr16:48616000-48617800	Weak transcription	Fetal Lung	lung
38	chr16:48616200-48617800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:48616200-48617800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:48616200-48618000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:48616200-48618000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:48616200-48618400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr16:48616400-48617200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:48616400-48624400	Weak transcription	HepG2	liver
45	chr16:48616600-48617000	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr16:48616600-48617000	Enhancers	Lung	lung
47	chr16:48616600-48618000	Enhancers	Left Ventricle	heart
48	chr16:48616600-48618200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:48616600-48618600	Enhancers	HSMMtube	muscle
50	chr16:48616600-48624400	Weak transcription	Primary B cells from cord blood	blood

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