Variant report

Variant	rs28513081
Chromosome Location	chr8:120934126-120934127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10093230	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10094455	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10094458	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10094587	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10098306	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10103058	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10103660	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10107251	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10107361	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10107579	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10110216	0.84[AMR][1000 genomes]
rs10110223	0.84[AMR][1000 genomes]
rs10216503	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10217083	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10808505	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10955940	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10955941	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11777705	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11781657	0.85[AMR][1000 genomes]
rs12545854	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12545863	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12681402	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12681623	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13249122	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13250594	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13253140	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13257252	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13257316	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13258592	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13259990	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13260088	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13260933	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13261304	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13263296	0.82[AMR][1000 genomes]
rs13265367	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13265546	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13267652	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13267896	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13275184	0.83[EUR][1000 genomes]
rs13275524	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13277947	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13277992	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13279398	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13281299	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13282901	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1464276	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1467044	0.81[AMR][1000 genomes]
rs1607624	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2037346	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28669275	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35272074	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4073560	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4871012	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4871013	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4871772	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4871773	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4871787	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55892034	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56864850	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6469861	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6469862	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6469863	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6469864	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6469865	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6469867	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6469868	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6469870	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6469871	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6469872	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6469878	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6987580	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6988011	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6989741	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6993375	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6993797	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6995139	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7002839	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7003126	0.84[AMR][1000 genomes]
rs7005380	0.82[ASN][1000 genomes]
rs7006905	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7015470	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7387264	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7387694	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7388508	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7459671	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7461290	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7462250	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7462302	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7465181	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7465609	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7465612	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7814294	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7814496	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7814520	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7818471	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7824545	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7829901	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7832923	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs939241	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs939242	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9649947	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9720591	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9721029	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9721042	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9987332	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1018953	chr8:120910380-120954832	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28513081	DEPTOR	cis	lung	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120923000-120935400	Enhancers	Stomach Mucosa	stomach
2	chr8:120926200-120944400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:120932000-120944800	Weak transcription	Aorta	Aorta
4	chr8:120932800-120936800	Enhancers	Brain Hippocampus Middle	brain
5	chr8:120932800-120940600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:120933000-120934800	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:120933000-120940800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:120933000-120941200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:120933000-120941400	Weak transcription	Fetal Lung	lung
10	chr8:120933000-120941600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:120933000-120944400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:120933000-120946000	Weak transcription	Placenta	Placenta
13	chr8:120933000-120948600	Weak transcription	Colonic Mucosa	Colon
14	chr8:120933000-120948800	Weak transcription	Esophagus	oesophagus
15	chr8:120933200-120934600	Weak transcription	Brain Angular Gyrus	brain
16	chr8:120933200-120934600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:120933200-120934800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:120933200-120934800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:120933200-120935000	Weak transcription	Ovary	ovary
20	chr8:120933200-120937000	Weak transcription	Fetal Stomach	stomach
21	chr8:120933200-120938400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:120933200-120940600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:120933200-120940600	Weak transcription	Liver	Liver
24	chr8:120933200-120941200	Weak transcription	Adipose Nuclei	Adipose
25	chr8:120933200-120941200	Weak transcription	Fetal Kidney	kidney
26	chr8:120933200-120941400	Weak transcription	Fetal Intestine Large	intestine
27	chr8:120933200-120941600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:120933200-120942000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:120933200-120942800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:120933200-120943200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:120933200-120944200	Weak transcription	Fetal Brain Female	brain
32	chr8:120933200-120946400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:120933200-120946600	Weak transcription	Lung	lung
34	chr8:120933200-120953600	Weak transcription	Right Ventricle	heart
35	chr8:120933400-120934200	Weak transcription	Psoas Muscle	Psoas
36	chr8:120933400-120934800	Weak transcription	Brain Anterior Caudate	brain
37	chr8:120933400-120935200	Weak transcription	Spleen	Spleen
38	chr8:120933400-120937000	Weak transcription	Fetal Intestine Small	intestine
39	chr8:120933400-120941200	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:120933600-120934600	Weak transcription	Brain Substantia Nigra	brain
41	chr8:120933600-120934600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:120933600-120935000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:120933600-120935000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:120933600-120935000	Weak transcription	Left Ventricle	heart
45	chr8:120933600-120935600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:120933600-120941200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:120933600-120942800	Weak transcription	Pancreas	Pancrea
48	chr8:120934000-120935000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:120934000-120940600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:120934000-120942600	Weak transcription	Gastric	stomach

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