Variant report

Variant	rs73880393
Chromosome Location	chr22:28507096-28507097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10154425	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212007	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10212036	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212040	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10212074	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10212083	1.00[ASN][1000 genomes]
rs10483140	0.84[EUR][1000 genomes]
rs10483142	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10483143	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs118840	0.88[EUR][1000 genomes]
rs12165651	0.86[EUR][1000 genomes]
rs12165797	0.86[EUR][1000 genomes]
rs12166023	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166077	0.93[EUR][1000 genomes]
rs12166158	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166164	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166253	1.00[ASN][1000 genomes]
rs12166256	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12166389	0.86[EUR][1000 genomes]
rs12166719	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12166740	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12166912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166938	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12167320	0.86[EUR][1000 genomes]
rs12167735	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167829	0.86[EUR][1000 genomes]
rs12168054	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168180	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12168251	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168582	0.84[EUR][1000 genomes]
rs12168652	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169097	0.86[EUR][1000 genomes]
rs12169888	0.93[EUR][1000 genomes]
rs12169936	0.86[EUR][1000 genomes]
rs12170022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170558	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12170953	0.93[EUR][1000 genomes]
rs12171104	0.84[EUR][1000 genomes]
rs134194	1.00[ASN][1000 genomes]
rs134197	1.00[ASN][1000 genomes]
rs138636	0.88[EUR][1000 genomes]
rs138637	0.88[EUR][1000 genomes]
rs138639	0.88[EUR][1000 genomes]
rs138640	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs138642	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs138651	0.93[EUR][1000 genomes]
rs138653	0.88[EUR][1000 genomes]
rs138654	0.93[EUR][1000 genomes]
rs138655	0.93[EUR][1000 genomes]
rs138656	0.93[EUR][1000 genomes]
rs138658	0.93[EUR][1000 genomes]
rs138660	0.93[EUR][1000 genomes]
rs138664	0.93[EUR][1000 genomes]
rs138665	0.93[EUR][1000 genomes]
rs138667	0.93[EUR][1000 genomes]
rs138669	0.86[EUR][1000 genomes]
rs138670	0.88[EUR][1000 genomes]
rs138671	0.93[EUR][1000 genomes]
rs138672	0.93[EUR][1000 genomes]
rs16985763	0.86[EUR][1000 genomes]
rs16985967	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16985976	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986037	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16986077	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987005	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17390800	0.86[EUR][1000 genomes]
rs17407024	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483887	0.93[EUR][1000 genomes]
rs17484337	0.93[EUR][1000 genomes]
rs2745562	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28375646	0.93[EUR][1000 genomes]
rs28579300	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4036493	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs470098	0.88[EUR][1000 genomes]
rs470102	0.93[EUR][1000 genomes]
rs470103	0.93[EUR][1000 genomes]
rs470104	0.93[EUR][1000 genomes]
rs55856549	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393679	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57686964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58050941	0.87[EUR][1000 genomes]
rs58823697	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59103380	0.84[AFR][1000 genomes]
rs59846801	0.84[AFR][1000 genomes]
rs7286519	0.93[EUR][1000 genomes]
rs7288331	0.86[EUR][1000 genomes]
rs7289984	0.86[EUR][1000 genomes]
rs7292562	0.86[EUR][1000 genomes]
rs73880355	0.84[EUR][1000 genomes]
rs73880374	0.93[EUR][1000 genomes]
rs73880375	0.93[EUR][1000 genomes]
rs73880376	0.93[EUR][1000 genomes]
rs73880381	0.93[EUR][1000 genomes]
rs73880382	0.86[EUR][1000 genomes]
rs73880383	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880384	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880385	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73880387	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880391	1.00[ASN][1000 genomes]
rs73880395	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882704	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761322	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761323	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141163	0.86[EUR][1000 genomes]
rs8141173	0.86[EUR][1000 genomes]
rs9306451	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9306452	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620752	0.86[EUR][1000 genomes]
rs9620753	0.86[EUR][1000 genomes]
rs9620755	0.83[EUR][1000 genomes]
rs9620757	0.86[EUR][1000 genomes]
rs9620762	0.93[EUR][1000 genomes]
rs9620764	0.93[EUR][1000 genomes]
rs9620766	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620767	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620768	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9620769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620770	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620771	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620779	1.00[ASN][1000 genomes]
rs9625361	0.84[EUR][1000 genomes]
rs9625363	0.86[EUR][1000 genomes]
rs9625366	0.85[EUR][1000 genomes]
rs9625367	0.86[EUR][1000 genomes]
rs9625370	0.86[EUR][1000 genomes]
rs9625374	0.86[EUR][1000 genomes]
rs9625375	0.86[EUR][1000 genomes]
rs9625377	0.86[EUR][1000 genomes]
rs9625387	0.93[EUR][1000 genomes]
rs9625388	0.93[EUR][1000 genomes]
rs9625390	0.93[EUR][1000 genomes]
rs9625391	0.91[EUR][1000 genomes]
rs9625393	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625396	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625397	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625398	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625399	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625400	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625402	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625403	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625405	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625406	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625407	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625408	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625413	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625415	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625416	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625417	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625418	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625421	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625425	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625430	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625433	1.00[ASN][1000 genomes]
rs9625437	1.00[ASN][1000 genomes]
rs9625441	1.00[ASN][1000 genomes]
rs9712839	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs988893	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985213	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28485800-28508600	Weak transcription	Brain Substantia Nigra	brain
2	chr22:28486000-28507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:28486400-28508600	Weak transcription	Psoas Muscle	Psoas
4	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr22:28489000-28508200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:28489800-28508400	Weak transcription	Small Intestine	intestine
7	chr22:28495000-28507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:28495000-28508400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:28495000-28508400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr22:28495000-28508600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr22:28495200-28508600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:28497200-28508600	Weak transcription	Stomach Mucosa	stomach
14	chr22:28498200-28510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:28499800-28508400	Weak transcription	HSMMtube	muscle
16	chr22:28500000-28507600	Weak transcription	HSMM	muscle
17	chr22:28500000-28507800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:28500000-28507800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:28500200-28508400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:28500400-28507800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr22:28500400-28508600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:28501000-28507800	Weak transcription	Colon Smooth Muscle	Colon
23	chr22:28501400-28508200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:28501400-28512600	Weak transcription	Fetal Kidney	kidney
25	chr22:28501600-28507800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:28501600-28507800	Weak transcription	Pancreas	Pancrea
27	chr22:28501600-28508600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:28501600-28512000	Weak transcription	Esophagus	oesophagus
29	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
30	chr22:28501800-28508600	Weak transcription	Fetal Thymus	thymus
31	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:28502400-28507800	Weak transcription	Right Atrium	heart
33	chr22:28502400-28508600	Weak transcription	Gastric	stomach
34	chr22:28502400-28508600	Weak transcription	Spleen	Spleen
35	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
36	chr22:28503200-28509000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr22:28503600-28507600	Weak transcription	Fetal Heart	heart
38	chr22:28503600-28507800	Weak transcription	Placenta	Placenta
39	chr22:28503800-28507400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:28504000-28507200	Weak transcription	Fetal Lung	lung
41	chr22:28504000-28507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:28504000-28507800	Weak transcription	Brain Anterior Caudate	brain
43	chr22:28504000-28507800	Weak transcription	NHLF	lung
44	chr22:28504200-28507200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:28504200-28507800	Weak transcription	Fetal Brain Female	brain
46	chr22:28504200-28508200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:28504200-28508200	Weak transcription	Brain Hippocampus Middle	brain
48	chr22:28504200-28508400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr22:28504200-28508800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr22:28504200-28510800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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