Variant report

Variant	rs73880395
Chromosome Location	chr22:28509461-28509462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28508081..28510414-chr22:28531176..28532901,2	K562	blood:

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10154425	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212007	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10212036	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212040	0.84[AMR][1000 genomes]
rs10212074	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10212083	1.00[ASN][1000 genomes]
rs10483142	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10483143	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs118840	0.81[EUR][1000 genomes]
rs12166023	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166077	0.86[EUR][1000 genomes]
rs12166158	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166164	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12166253	1.00[ASN][1000 genomes]
rs12166256	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12166719	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166740	0.87[EUR][1000 genomes]
rs12166912	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166938	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12167735	1.00[ASN][1000 genomes]
rs12168054	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168180	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12168251	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12168652	1.00[ASN][1000 genomes]
rs12169888	0.86[EUR][1000 genomes]
rs12170022	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170558	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12170953	0.86[EUR][1000 genomes]
rs134194	1.00[ASN][1000 genomes]
rs134197	1.00[ASN][1000 genomes]
rs138636	0.81[EUR][1000 genomes]
rs138637	0.81[EUR][1000 genomes]
rs138639	0.81[EUR][1000 genomes]
rs138640	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs138642	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs138651	0.86[EUR][1000 genomes]
rs138653	0.81[EUR][1000 genomes]
rs138654	0.86[EUR][1000 genomes]
rs138655	0.86[EUR][1000 genomes]
rs138656	0.86[EUR][1000 genomes]
rs138658	0.86[EUR][1000 genomes]
rs138660	0.86[EUR][1000 genomes]
rs138664	0.86[EUR][1000 genomes]
rs138665	0.86[EUR][1000 genomes]
rs138667	0.86[EUR][1000 genomes]
rs138670	0.81[EUR][1000 genomes]
rs138671	0.86[EUR][1000 genomes]
rs138672	0.86[EUR][1000 genomes]
rs16985967	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16985976	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986037	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16986077	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987005	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407024	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483887	0.86[EUR][1000 genomes]
rs17484337	0.86[EUR][1000 genomes]
rs2745562	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28375646	0.86[EUR][1000 genomes]
rs28579300	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4036493	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs470098	0.81[EUR][1000 genomes]
rs470102	0.86[EUR][1000 genomes]
rs470103	0.86[EUR][1000 genomes]
rs470104	0.86[EUR][1000 genomes]
rs55856549	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233401	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393679	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57686964	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59103380	0.84[AFR][1000 genomes]
rs59846801	0.84[AFR][1000 genomes]
rs7286519	0.86[EUR][1000 genomes]
rs73880374	0.86[EUR][1000 genomes]
rs73880375	0.86[EUR][1000 genomes]
rs73880376	0.86[EUR][1000 genomes]
rs73880381	0.86[EUR][1000 genomes]
rs73880382	0.92[EUR][1000 genomes]
rs73880383	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880384	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880385	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73880387	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880391	1.00[ASN][1000 genomes]
rs73880393	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];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	1.00[ASN][1000 genomes]
rs761322	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761323	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306451	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9306452	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620762	0.86[EUR][1000 genomes]
rs9620764	0.86[EUR][1000 genomes]
rs9620766	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620767	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620768	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9620769	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620771	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620779	1.00[ASN][1000 genomes]
rs9625387	0.86[EUR][1000 genomes]
rs9625388	0.86[EUR][1000 genomes]
rs9625390	0.86[EUR][1000 genomes]
rs9625391	0.84[EUR][1000 genomes]
rs9625393	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625396	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625397	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625398	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625399	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625400	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625402	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625403	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625405	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625406	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625407	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625408	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625409	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625410	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625413	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625415	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9625416	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625417	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625418	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625421	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625425	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9625430	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9625433	1.00[ASN][1000 genomes]
rs9625437	1.00[ASN][1000 genomes]
rs9625441	1.00[ASN][1000 genomes]
rs9712839	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs988893	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:28498200-28510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:28501400-28512600	Weak transcription	Fetal Kidney	kidney
5	chr22:28501600-28512000	Weak transcription	Esophagus	oesophagus
6	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
7	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
9	chr22:28504200-28510800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:28504200-28514600	Weak transcription	Brain Germinal Matrix	brain
11	chr22:28504400-28512200	Weak transcription	Aorta	Aorta
12	chr22:28504400-28513200	Weak transcription	HepG2	liver
13	chr22:28504400-28516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:28505200-28512800	Weak transcription	Dnd41	blood
15	chr22:28505400-28510200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:28506400-28510000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:28507000-28509800	Enhancers	Osteobl	bone
18	chr22:28507200-28509600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:28507200-28509600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:28507200-28509600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:28507200-28510400	Enhancers	Fetal Lung	lung
22	chr22:28507400-28509600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:28507600-28509600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr22:28507600-28510600	Enhancers	Fetal Heart	heart
25	chr22:28507800-28509600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:28507800-28509600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:28507800-28509600	Enhancers	Placenta	Placenta
28	chr22:28507800-28509600	Enhancers	Ovary	ovary
29	chr22:28507800-28509600	Enhancers	NHLF	lung
30	chr22:28507800-28510800	Enhancers	Colon Smooth Muscle	Colon
31	chr22:28508200-28509600	Enhancers	Fetal Stomach	stomach
32	chr22:28508200-28509600	Enhancers	Rectal Smooth Muscle	rectum
33	chr22:28508200-28509600	Enhancers	HSMM	muscle
34	chr22:28508400-28509600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr22:28508400-28509600	Enhancers	Fetal Muscle Leg	muscle
36	chr22:28508400-28509600	Enhancers	Right Atrium	heart
37	chr22:28508400-28509600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr22:28508600-28509600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:28508600-28509600	Enhancers	Fetal Muscle Trunk	muscle
40	chr22:28508600-28509600	Enhancers	Left Ventricle	heart
41	chr22:28508600-28509600	Enhancers	Psoas Muscle	Psoas
42	chr22:28508600-28511000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr22:28508800-28514800	Weak transcription	Fetal Intestine Small	intestine
44	chr22:28508800-28516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:28509000-28509600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:28509000-28509600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr22:28509000-28509600	Enhancers	Stomach Smooth Muscle	stomach
48	chr22:28509000-28509800	Enhancers	NHDF-Ad	bronchial
49	chr22:28509000-28510000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:28509000-28510600	Weak transcription	NHEK	skin

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