Variant report

Variant	rs11996300
Chromosome Location	chr8:54719954-54719955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1031979	0.94[ASN][1000 genomes]
rs1031980	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10435587	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11994467	0.83[ASN][1000 genomes]
rs12056486	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12056719	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12115070	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12234972	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13276766	0.80[ASN][1000 genomes]
rs1552148	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919508	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16919522	0.89[ASN][1000 genomes]
rs16919534	0.89[ASN][1000 genomes]
rs16919537	0.89[ASN][1000 genomes]
rs16919541	0.88[ASN][1000 genomes]
rs16919563	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919571	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919573	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1872063	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1905061	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2128150	0.90[ASN][1000 genomes]
rs2170444	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2376011	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3735831	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757954	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41321146	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4236945	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737192	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4737518	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4737554	0.92[ASN][1000 genomes]
rs4737558	0.92[ASN][1000 genomes]
rs4737764	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737765	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4737821	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737974	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4738025	0.80[AMR][1000 genomes]
rs4738027	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4738470	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4738646	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4738884	0.88[ASN][1000 genomes]
rs4738916	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55876329	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55964335	0.89[ASN][1000 genomes]
rs56818292	0.85[ASN][1000 genomes]
rs56956173	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56973376	0.90[ASN][1000 genomes]
rs57071607	0.94[EUR][1000 genomes]
rs58473841	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58558817	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58970885	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61070518	0.83[ASN][1000 genomes]
rs6984257	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986372	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6987427	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6988009	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6988808	0.94[EUR][1000 genomes]
rs6988812	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997003	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997127	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6999454	0.90[ASN][1000 genomes]
rs7009705	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7018162	0.93[ASN][1000 genomes]
rs73587624	0.89[AMR][1000 genomes]
rs73587627	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73680316	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73680321	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73682555	0.89[ASN][1000 genomes]
rs73682568	0.91[ASN][1000 genomes]
rs73682570	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7387704	0.86[AMR][1000 genomes]
rs7843701	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900163	0.89[ASN][1000 genomes]
rs958268	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9643480	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643819	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643820	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
2	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:54681000-54726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
5	chr8:54687600-54753600	Weak transcription	A549	lung
6	chr8:54691800-54726400	Weak transcription	Stomach Mucosa	stomach
7	chr8:54699200-54720000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr8:54700000-54740400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:54700200-54731600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:54703000-54728000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:54703400-54725200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:54704000-54721600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:54704400-54720000	Weak transcription	Brain Substantia Nigra	brain
14	chr8:54705200-54726000	Weak transcription	Right Ventricle	heart
15	chr8:54705200-54726200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:54705400-54727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:54707800-54740400	Weak transcription	K562	blood
18	chr8:54708000-54725800	Weak transcription	Fetal Kidney	kidney
19	chr8:54708000-54726200	Weak transcription	HepG2	liver
20	chr8:54708400-54721600	Weak transcription	Fetal Brain Female	brain
21	chr8:54708600-54724600	Weak transcription	Brain Germinal Matrix	brain
22	chr8:54708800-54720200	Weak transcription	HSMMtube	muscle
23	chr8:54708800-54724800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:54709000-54740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:54710000-54720400	Weak transcription	Esophagus	oesophagus
26	chr8:54710000-54723600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:54710000-54726200	Weak transcription	HMEC	breast
28	chr8:54710000-54733000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:54710200-54720000	Weak transcription	Small Intestine	intestine
30	chr8:54710200-54720200	Weak transcription	NHLF	lung
31	chr8:54710200-54720600	Weak transcription	Fetal Stomach	stomach
32	chr8:54710200-54724600	Weak transcription	Ovary	ovary
33	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:54710400-54720400	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:54712400-54726200	Weak transcription	Spleen	Spleen
36	chr8:54712600-54720400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:54712800-54720000	Weak transcription	Left Ventricle	heart
38	chr8:54712800-54721600	Weak transcription	Brain Angular Gyrus	brain
39	chr8:54712800-54722000	Weak transcription	Brain Anterior Caudate	brain
40	chr8:54712800-54725200	Weak transcription	Lung	lung
41	chr8:54712800-54726200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:54712800-54726200	Weak transcription	Gastric	stomach
43	chr8:54712800-54726200	Weak transcription	Pancreas	Pancrea
44	chr8:54713000-54720000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:54713000-54726400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:54713000-54750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:54713200-54726400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr8:54713200-54740200	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:54713600-54720400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:54713800-54722200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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