Variant report

Variant	rs12935540
Chromosome Location	chr16:48586557-48586558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs1039340	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039341	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039342	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039343	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1039344	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1106386	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11076570	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11076571	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11076572	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11076573	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1115758	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1115759	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1120275	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1120276	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11495819	0.80[EUR][1000 genomes]
rs11640119	0.82[ASN][1000 genomes]
rs11640463	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11641458	0.82[EUR][1000 genomes]
rs11641510	0.94[ASN][1000 genomes]
rs11643264	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11643272	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11644518	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11645193	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11647046	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11647048	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11649236	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11859909	0.84[EUR][1000 genomes]
rs1224	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12444902	0.81[ASN][1000 genomes]
rs12446280	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12933948	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13330784	0.83[ASN][1000 genomes]
rs13331298	0.81[ASN][1000 genomes]
rs13331902	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13332125	0.83[ASN][1000 genomes]
rs13335847	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1386040	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1386042	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1486411	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1486412	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1564979	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1564980	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16946342	0.83[EUR][1000 genomes]
rs17826468	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1825683	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1872652	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1872654	0.82[EUR][1000 genomes]
rs1872655	0.82[EUR][1000 genomes]
rs1909765	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1987061	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2080508	0.80[EUR][1000 genomes]
rs2101372	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2129243	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2354578	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2354579	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28432694	0.81[ASN][1000 genomes]
rs28481630	0.83[ASN][1000 genomes]
rs2883475	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2883641	0.81[ASN][1000 genomes]
rs34813315	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36077931	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743779	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743780	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3817029	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826174	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3843724	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3848319	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3848320	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3848321	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3848322	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4277341	0.80[ASN][1000 genomes]
rs4471681	0.81[ASN][1000 genomes]
rs4493038	0.80[EUR][1000 genomes]
rs4785247	0.81[EUR][1000 genomes]
rs4785248	0.81[EUR][1000 genomes]
rs4785528	0.81[EUR][1000 genomes]
rs55671623	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55782524	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57903644	0.80[ASN][1000 genomes]
rs6500395	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6500396	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6500397	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6500398	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6500405	0.80[EUR][1000 genomes]
rs7184070	0.81[EUR][1000 genomes]
rs7184144	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7185541	0.81[ASN][1000 genomes]
rs7187513	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7188741	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7191028	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7191225	0.83[ASN][1000 genomes]
rs7192297	0.81[EUR][1000 genomes]
rs7194570	0.81[EUR][1000 genomes]
rs7196823	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7197732	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7198145	0.81[ASN][1000 genomes]
rs7198773	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7199206	0.80[EUR][1000 genomes]
rs7199625	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7201196	0.81[EUR][1000 genomes]
rs7204345	0.81[ASN][1000 genomes]
rs74017013	0.81[ASN][1000 genomes]
rs8044519	0.84[EUR][1000 genomes]
rs8050844	0.81[ASN][1000 genomes]
rs8052073	0.80[EUR][1000 genomes]
rs8052640	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8053598	0.84[EUR][1000 genomes]
rs8057165	0.82[EUR][1000 genomes]
rs8057777	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8058362	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8059905	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs868792	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs871902	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs924476	0.89[EUR][1000 genomes]
rs989070	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9921737	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9921741	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9922356	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9922734	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9923371	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9923753	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9924078	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9924483	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9925406	0.82[EUR][1000 genomes]
rs9927888	0.88[EUR][1000 genomes]
rs9928051	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9930199	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9930644	0.81[AMR][1000 genomes]
rs9931123	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9931737	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9933187	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9933329	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9933976	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9934626	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9934844	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9936004	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9936271	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9936445	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9936446	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9936454	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9937134	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9937568	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9937610	0.82[EUR][1000 genomes]
rs9937623	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938126	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938308	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9938890	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9939103	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941275	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941336	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48571200-48586800	Weak transcription	HUVEC	blood vessel
2	chr16:48571600-48586800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:48571800-48588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:48572200-48588400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr16:48572400-48592400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:48572800-48587000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:48573200-48586800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:48573200-48588600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr16:48573600-48587000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:48573600-48587800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:48573600-48588600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:48573800-48587800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr16:48573800-48588800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:48573800-48589400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:48573800-48589800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:48574200-48589400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:48574600-48587800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr16:48574600-48588800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:48574600-48589800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:48575000-48586800	Weak transcription	Hela-S3	cervix
21	chr16:48575000-48588800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:48575000-48589000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:48575600-48587800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr16:48576200-48587600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:48576200-48587600	Strong transcription	Fetal Muscle Leg	muscle
26	chr16:48576200-48588200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:48576200-48588800	Strong transcription	Placenta	Placenta
28	chr16:48576200-48593600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:48576400-48586800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:48577200-48596800	Weak transcription	Colonic Mucosa	Colon
31	chr16:48577400-48587600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:48577400-48587600	Strong transcription	Fetal Lung	lung
33	chr16:48577600-48587800	Weak transcription	Small Intestine	intestine
34	chr16:48578200-48592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:48578400-48588600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:48578400-48590600	Weak transcription	Aorta	Aorta
37	chr16:48578400-48593600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:48578400-48601800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:48578800-48587800	Weak transcription	Right Ventricle	heart
40	chr16:48578800-48588800	Weak transcription	Ovary	ovary
41	chr16:48580400-48587200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr16:48580800-48594600	Weak transcription	Fetal Kidney	kidney
43	chr16:48581200-48587800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:48581400-48587000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr16:48581400-48587600	Strong transcription	Adipose Nuclei	Adipose
46	chr16:48581400-48587800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:48581600-48587000	Strong transcription	Fetal Stomach	stomach
48	chr16:48581800-48587800	Weak transcription	Right Atrium	heart
49	chr16:48581800-48588600	Weak transcription	Psoas Muscle	Psoas
50	chr16:48581800-48589400	Strong transcription	Rectal Mucosa Donor 31	rectum

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