Variant report

Variant	rs11994366
Chromosome Location	chr8:54971326-54971327
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10093311	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10093431	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10095163	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10095164	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10096376	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10099080	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10101289	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102439	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102726	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102905	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10112203	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1044604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1112697	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1112698	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11986605	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11988830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988859	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993180	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11998000	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11998659	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12115094	0.87[EUR][1000 genomes]
rs16919750	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369337	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28379732	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28397021	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412019	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28413072	0.96[AMR][1000 genomes]
rs28507589	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28533970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28565202	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28707072	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28736685	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28759114	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55704212	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55781183	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55864901	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56087054	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56902942	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57093383	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58515879	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58595525	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59087284	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59114404	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59270026	0.87[EUR][1000 genomes]
rs59277432	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59387379	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60186893	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60672236	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60805450	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6473899	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473901	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473902	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473903	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473905	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473906	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473907	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473910	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6981386	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6983650	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6983958	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6984119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6989211	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6992073	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7001391	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7003793	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004808	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7005653	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007028	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007031	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007176	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7008593	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7011032	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7014036	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7016108	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018089	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7018355	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73589273	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73589286	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73589295	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73590817	0.80[EUR][1000 genomes]
rs73679588	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73679589	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73679596	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73679602	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681304	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681305	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681307	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681309	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681805	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681806	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7815998	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7822750	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7823234	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7824355	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7824979	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833336	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7834757	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7836760	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7839276	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844291	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844299	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846650	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9771960	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9918912	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv1818072	chr8:54968014-54991447	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54940200-54978200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:54944200-54974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
5	chr8:54949000-54977200	Weak transcription	Aorta	Aorta
6	chr8:54949800-54999400	Weak transcription	NHLF	lung
7	chr8:54954000-54973800	Weak transcription	Right Ventricle	heart
8	chr8:54955200-54979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:54955400-54978400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:54956400-54974200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:54956600-54977800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:54957200-54973800	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:54957600-54983400	Weak transcription	Stomach Mucosa	stomach
17	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:54960000-54978600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
20	chr8:54960600-54977400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:54960600-54977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:54960800-54977400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr8:54960800-54977600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:54960800-54978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:54962200-54971600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:54962200-54991000	Weak transcription	Esophagus	oesophagus
27	chr8:54963200-54983600	Weak transcription	Brain Angular Gyrus	brain
28	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
31	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
32	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
33	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:54964600-54978000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:54965400-54972400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:54965400-54972800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
38	chr8:54966400-54972600	Weak transcription	Thymus	Thymus
39	chr8:54966400-54974000	Weak transcription	Gastric	stomach
40	chr8:54966400-54979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:54966400-54991800	Weak transcription	NH-A	brain
42	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
43	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
44	chr8:54966600-54972600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:54966600-54979200	Weak transcription	Fetal Brain Male	brain
46	chr8:54966600-54983000	Weak transcription	Brain Germinal Matrix	brain
47	chr8:54966600-54991800	Weak transcription	Osteobl	bone
48	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:54966800-54972200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:54966800-54972600	Weak transcription	Spleen	Spleen

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