Variant report

Variant	rs2101372
Chromosome Location	chr16:48627306-48627307
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	chr16:48626790..48629783-chr16:48630060..48632935,2	K562	blood:

Extended variants
information (count: 163 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs1039340	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039341	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039342	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039343	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039344	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1106386	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11076570	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11076571	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11076572	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11076573	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11076578	0.84[EUR][1000 genomes]
rs1115758	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1115759	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1120275	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1120276	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11495819	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11640119	0.86[ASN][1000 genomes]
rs11640463	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11641458	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11641510	0.98[ASN][1000 genomes]
rs11643264	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11643272	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11644518	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11645193	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11647046	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11647048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11648101	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11649236	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11859909	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1224	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12444902	0.85[ASN][1000 genomes]
rs12446280	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12597928	0.84[EUR][1000 genomes]
rs12598514	0.84[EUR][1000 genomes]
rs12933948	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12935540	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13330784	0.87[ASN][1000 genomes]
rs13331298	0.85[ASN][1000 genomes]
rs13331902	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13332125	0.87[ASN][1000 genomes]
rs13335847	0.87[EUR][1000 genomes]
rs1386040	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1386042	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477134	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1486411	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1486412	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1558815	0.80[EUR][1000 genomes]
rs1564979	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1564980	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16946340	0.83[AMR][1000 genomes]
rs16946342	0.88[EUR][1000 genomes]
rs17826468	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1825683	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1872652	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1872654	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1872655	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1909765	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1987061	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2041921	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2080507	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2080508	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2129243	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2354578	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2354579	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28432694	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28481630	0.87[ASN][1000 genomes]
rs28577888	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2883475	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2883641	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34813315	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36077931	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743779	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743780	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3817029	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826174	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3843724	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3848319	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3848320	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3848321	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3848322	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4277341	0.84[ASN][1000 genomes]
rs4471681	0.85[ASN][1000 genomes]
rs4493038	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4785247	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4785248	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4785528	0.85[EUR][1000 genomes]
rs55671623	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55782524	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57903644	0.84[ASN][1000 genomes]
rs61098261	0.82[ASN][1000 genomes]
rs6500395	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6500396	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6500397	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6500398	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6500405	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7184070	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7184144	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7185541	0.85[ASN][1000 genomes]
rs7185899	0.81[EUR][1000 genomes]
rs7187513	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7188741	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7191028	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7191225	0.87[ASN][1000 genomes]
rs7192297	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7194570	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7195684	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7196823	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7197732	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7198145	0.85[ASN][1000 genomes]
rs7198773	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7199206	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7199625	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7201196	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7204345	0.85[ASN][1000 genomes]
rs74017013	0.85[ASN][1000 genomes]
rs8044519	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8050844	0.85[ASN][1000 genomes]
rs8052073	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8052640	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8053598	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8057165	0.83[EUR][1000 genomes]
rs8057777	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8058362	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8059819	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8059905	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs868792	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs871902	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs924476	0.90[EUR][1000 genomes]
rs989070	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9921737	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9921741	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9922356	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9922734	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9923371	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9923753	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9924078	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9924483	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9925406	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9927888	0.89[EUR][1000 genomes]
rs9928051	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9930199	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9931123	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9931737	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9933187	0.90[EUR][1000 genomes]
rs9933329	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9933976	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9934626	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9934844	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9936004	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9936271	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9936445	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9936446	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9936454	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9937134	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9937568	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9937610	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9937623	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938126	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938308	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938890	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9939103	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941275	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941336	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2101372	N4BP1	cis	multi-tissue	Pritchard

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48605000-48630200	Weak transcription	Spleen	Spleen
2	chr16:48612400-48630200	Weak transcription	Gastric	stomach
3	chr16:48618000-48631600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr16:48618200-48630400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:48618200-48640400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:48619200-48631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:48621200-48631400	Weak transcription	Brain Angular Gyrus	brain
8	chr16:48622400-48632800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:48622600-48632600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:48623400-48629000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:48623600-48629600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:48623600-48629800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:48624000-48628400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:48624200-48628600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:48624400-48628000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr16:48624400-48630600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr16:48624400-48632200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr16:48624600-48627400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:48624600-48627400	ZNF genes & repeats	NHEK	skin
20	chr16:48624600-48628800	ZNF genes & repeats	GM12878-XiMat	blood
21	chr16:48624600-48630200	Weak transcription	Pancreas	Pancrea
22	chr16:48624800-48627800	ZNF genes & repeats	Dnd41	blood
23	chr16:48624800-48629600	Weak transcription	Ovary	ovary
24	chr16:48624800-48630200	Weak transcription	Lung	lung
25	chr16:48624800-48630200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:48625000-48630200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:48625200-48631400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:48625600-48628400	ZNF genes & repeats	HepG2	liver
29	chr16:48625600-48630000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:48625800-48627400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:48625800-48627400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
32	chr16:48625800-48627800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:48625800-48628400	ZNF genes & repeats	A549	lung
34	chr16:48626000-48627400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:48626000-48627400	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr16:48626200-48627400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
37	chr16:48626200-48629800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr16:48626400-48627600	Weak transcription	Right Atrium	heart
39	chr16:48626400-48630000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:48626400-48630200	Weak transcription	Left Ventricle	heart
41	chr16:48626400-48631600	Weak transcription	Hela-S3	cervix
42	chr16:48626400-48640400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:48626600-48627400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:48626600-48627400	Enhancers	Liver	Liver
45	chr16:48626600-48630000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr16:48626800-48627400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:48626800-48627400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
48	chr16:48626800-48627400	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr16:48627000-48627400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:48627000-48627400	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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