Variant report

Variant	rs28481630
Chromosome Location	chr16:48663664-48663665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48396664..48398744-chr16:48661857..48664145,2	K562	blood:

Variant related genes	Relation type
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs1039340	0.86[ASN][1000 genomes]
rs1039341	0.86[ASN][1000 genomes]
rs1039342	0.86[ASN][1000 genomes]
rs1039343	0.86[ASN][1000 genomes]
rs1039344	0.86[ASN][1000 genomes]
rs1106386	0.83[ASN][1000 genomes]
rs11076570	0.88[ASN][1000 genomes]
rs11076571	0.88[ASN][1000 genomes]
rs11076572	0.88[ASN][1000 genomes]
rs11076573	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11076578	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1115758	0.88[ASN][1000 genomes]
rs1115759	0.88[ASN][1000 genomes]
rs1120275	0.88[ASN][1000 genomes]
rs1120276	0.88[ASN][1000 genomes]
rs11495819	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11640119	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11640463	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11641458	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11641510	0.87[ASN][1000 genomes]
rs11643272	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11644518	0.87[ASN][1000 genomes]
rs11645193	0.86[ASN][1000 genomes]
rs11647046	0.87[ASN][1000 genomes]
rs11647048	0.88[ASN][1000 genomes]
rs11648101	0.82[AMR][1000 genomes]
rs11649236	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11859909	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1224	0.86[ASN][1000 genomes]
rs12444902	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12446280	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12597928	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12598514	0.93[AMR][1000 genomes]
rs12933948	0.92[AMR][1000 genomes]
rs12935540	0.83[ASN][1000 genomes]
rs13330784	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331298	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13331902	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13332125	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13335847	0.87[ASN][1000 genomes]
rs1386040	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1386042	0.88[ASN][1000 genomes]
rs1477134	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1486411	0.86[ASN][1000 genomes]
rs1486412	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1558815	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1564979	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1564980	0.83[AMR][1000 genomes]
rs16946340	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16946342	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17826468	0.86[ASN][1000 genomes]
rs1825683	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1872652	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1872654	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1872655	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1909765	0.88[ASN][1000 genomes]
rs1968902	0.84[AMR][1000 genomes]
rs1968903	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1987061	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2041921	0.88[AMR][1000 genomes]
rs2080507	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2080508	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2101372	0.87[ASN][1000 genomes]
rs2129243	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2354578	0.86[ASN][1000 genomes]
rs2354579	0.88[ASN][1000 genomes]
rs28432694	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28577888	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs28692806	0.82[AMR][1000 genomes]
rs2883641	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36077931	0.86[ASN][1000 genomes]
rs3743779	0.86[ASN][1000 genomes]
rs3743780	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817029	0.86[ASN][1000 genomes]
rs3826174	0.86[ASN][1000 genomes]
rs3843724	0.88[ASN][1000 genomes]
rs3848319	0.88[ASN][1000 genomes]
rs3848320	0.85[ASN][1000 genomes]
rs3848321	0.84[ASN][1000 genomes]
rs3848322	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4277341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4471681	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4493038	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4785247	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs4785248	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4785528	0.93[AMR][1000 genomes]
rs55671623	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57903644	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61098261	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6500395	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6500396	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6500397	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6500398	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6500405	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7184070	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7184144	0.85[ASN][1000 genomes]
rs7185541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7185899	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7187513	0.86[ASN][1000 genomes]
rs7188741	0.88[ASN][1000 genomes]
rs7191028	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7191225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192297	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7194570	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7195684	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7196823	0.86[ASN][1000 genomes]
rs7197732	0.86[ASN][1000 genomes]
rs7198145	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7198773	0.85[ASN][1000 genomes]
rs7199206	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7199625	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7201196	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7204345	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74017013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8044519	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8050844	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8052073	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8052640	0.88[ASN][1000 genomes]
rs8053598	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8057777	0.86[ASN][1000 genomes]
rs8058362	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8059819	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs8059905	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs868792	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs871902	0.86[ASN][1000 genomes]
rs989070	0.88[ASN][1000 genomes]
rs9921737	0.86[ASN][1000 genomes]
rs9921741	0.86[ASN][1000 genomes]
rs9922356	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9922734	0.88[ASN][1000 genomes]
rs9923371	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9923753	0.87[ASN][1000 genomes]
rs9924483	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9925406	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9930199	0.86[ASN][1000 genomes]
rs9931123	0.88[ASN][1000 genomes]
rs9931737	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9933329	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9933976	0.86[ASN][1000 genomes]
rs9934626	0.88[ASN][1000 genomes]
rs9934844	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9936004	0.86[ASN][1000 genomes]
rs9936271	0.88[ASN][1000 genomes]
rs9936445	0.88[ASN][1000 genomes]
rs9936446	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9936454	0.81[ASN][1000 genomes]
rs9937134	0.86[ASN][1000 genomes]
rs9937568	0.88[ASN][1000 genomes]
rs9937610	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9937623	0.86[ASN][1000 genomes]
rs9938126	0.86[ASN][1000 genomes]
rs9938308	0.86[ASN][1000 genomes]
rs9938890	0.88[ASN][1000 genomes]
rs9939103	0.86[ASN][1000 genomes]
rs9941275	0.86[ASN][1000 genomes]
rs9941336	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28481630	N4BP1	cis	multi-tissue	Pritchard

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48657800-48664000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:48657800-48664000	Weak transcription	Colon Smooth Muscle	Colon
3	chr16:48658000-48663800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:48658000-48664000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:48658000-48664000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr16:48658000-48664000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:48658000-48664000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:48658000-48664000	Weak transcription	Hela-S3	cervix
9	chr16:48658000-48664000	Weak transcription	NHDF-Ad	bronchial
10	chr16:48658000-48664000	Weak transcription	Osteobl	bone
11	chr16:48658000-48664200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:48658000-48667200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:48658000-48670400	Weak transcription	Pancreas	Pancrea
14	chr16:48658600-48664000	Weak transcription	Placenta	Placenta
15	chr16:48658600-48664000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:48658800-48663800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr16:48658800-48663800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr16:48658800-48664000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:48658800-48664000	Weak transcription	Fetal Thymus	thymus
20	chr16:48658800-48664200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:48661600-48664200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr16:48662000-48664200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:48662000-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:48662400-48664800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr16:48662800-48664000	Enhancers	HepG2	liver
26	chr16:48662800-48667400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:48663000-48664000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr16:48663000-48666400	Weak transcription	Fetal Intestine Small	intestine
29	chr16:48663400-48663800	Weak transcription	Fetal Intestine Large	intestine
30	chr16:48663400-48663800	Enhancers	Lung	lung
31	chr16:48663400-48664000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:48663400-48664200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr16:48663600-48663800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:48663600-48664800	Enhancers	Primary neutrophils fromperipheralblood	blood

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