Variant report

Variant	rs73880374
Chromosome Location	chr22:28429063-28429064
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	chr22:28421666..28423671-chr22:28428407..28430041,2	K562	blood:
2	chr22:28421365..28425106-chr22:28428246..28431609,4	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10154425	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10212007	0.84[EUR][1000 genomes]
rs10212036	0.86[EUR][1000 genomes]
rs10483140	0.91[EUR][1000 genomes]
rs10483142	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483143	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs118840	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165651	0.93[EUR][1000 genomes]
rs12165797	0.93[EUR][1000 genomes]
rs12166023	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12166077	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166158	0.95[EUR][1000 genomes]
rs12166164	0.86[EUR][1000 genomes]
rs12166256	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166389	0.93[EUR][1000 genomes]
rs12166719	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166740	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166912	0.95[EUR][1000 genomes]
rs12166938	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167320	0.93[EUR][1000 genomes]
rs12167829	0.93[EUR][1000 genomes]
rs12168054	0.96[EUR][1000 genomes]
rs12168180	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168251	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168582	0.91[EUR][1000 genomes]
rs12169097	0.93[EUR][1000 genomes]
rs12169888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169936	0.93[EUR][1000 genomes]
rs12170022	0.95[EUR][1000 genomes]
rs12170558	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171104	0.91[EUR][1000 genomes]
rs138636	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138637	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138639	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138640	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138642	0.95[EUR][1000 genomes]
rs138651	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138653	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138654	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138655	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138656	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs138658	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138660	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138664	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138665	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138667	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138669	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138670	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs138671	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138672	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985763	0.93[EUR][1000 genomes]
rs16985967	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985976	0.86[EUR][1000 genomes]
rs16986037	0.95[EUR][1000 genomes]
rs16986077	0.86[EUR][1000 genomes]
rs16987005	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17390800	0.93[EUR][1000 genomes]
rs17407024	0.91[EUR][1000 genomes]
rs17483887	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17484337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745562	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28375646	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579300	0.82[EUR][1000 genomes]
rs4036493	0.84[EUR][1000 genomes]
rs470098	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470102	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470103	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470104	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55856549	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56233401	0.95[EUR][1000 genomes]
rs56393679	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57686964	0.95[EUR][1000 genomes]
rs58050941	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.95[EUR][1000 genomes]
rs7286519	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288331	0.93[EUR][1000 genomes]
rs7289984	0.93[EUR][1000 genomes]
rs7292562	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880355	0.91[EUR][1000 genomes]
rs73880375	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880382	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880383	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880384	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880385	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880387	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880393	0.93[EUR][1000 genomes]
rs73880395	0.86[EUR][1000 genomes]
rs73882704	0.82[EUR][1000 genomes]
rs73882705	0.82[EUR][1000 genomes]
rs761322	0.87[EUR][1000 genomes]
rs761323	0.95[EUR][1000 genomes]
rs8141163	0.93[EUR][1000 genomes]
rs8141173	0.93[EUR][1000 genomes]
rs9306451	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306452	0.86[EUR][1000 genomes]
rs9620752	0.93[EUR][1000 genomes]
rs9620753	0.93[EUR][1000 genomes]
rs9620755	0.90[EUR][1000 genomes]
rs9620757	0.93[EUR][1000 genomes]
rs9620762	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620764	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620766	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620767	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620768	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620769	0.93[EUR][1000 genomes]
rs9620770	0.86[EUR][1000 genomes]
rs9620771	0.93[EUR][1000 genomes]
rs9625361	0.91[EUR][1000 genomes]
rs9625363	0.93[EUR][1000 genomes]
rs9625366	0.91[EUR][1000 genomes]
rs9625367	0.93[EUR][1000 genomes]
rs9625370	0.93[EUR][1000 genomes]
rs9625374	0.93[EUR][1000 genomes]
rs9625375	0.93[EUR][1000 genomes]
rs9625377	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625387	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625388	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625391	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625393	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625395	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625396	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625397	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625398	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625399	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625400	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625402	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625403	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625405	0.86[EUR][1000 genomes]
rs9625406	0.85[EUR][1000 genomes]
rs9625407	0.84[EUR][1000 genomes]
rs9625408	0.95[EUR][1000 genomes]
rs9625409	0.93[EUR][1000 genomes]
rs9625410	0.91[EUR][1000 genomes]
rs9625413	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625415	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625416	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625417	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625418	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625421	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625425	0.82[EUR][1000 genomes]
rs9625427	0.84[EUR][1000 genomes]
rs9625430	0.86[EUR][1000 genomes]
rs9712839	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988893	0.82[EUR][1000 genomes]
rs9985213	0.93[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28409400-28430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:28416600-28431000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr22:28418600-28429800	Strong transcription	Dnd41	blood
4	chr22:28423400-28431800	Enhancers	Fetal Thymus	thymus
5	chr22:28425400-28430400	Weak transcription	HSMMtube	muscle
6	chr22:28425400-28430600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:28425600-28430200	Weak transcription	HSMM	muscle
8	chr22:28425600-28430600	Weak transcription	NH-A	brain
9	chr22:28425600-28430600	Weak transcription	Osteobl	bone
10	chr22:28425600-28430800	Weak transcription	Thymus	Thymus
11	chr22:28425800-28430200	Weak transcription	Aorta	Aorta
12	chr22:28425800-28430200	Weak transcription	Ovary	ovary
13	chr22:28425800-28430400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr22:28426000-28430400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:28426200-28429800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:28426200-28430000	Weak transcription	Right Ventricle	heart
17	chr22:28426200-28430200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr22:28426200-28430200	Weak transcription	Fetal Intestine Large	intestine
19	chr22:28426200-28430200	Weak transcription	NHLF	lung
20	chr22:28426200-28430400	Weak transcription	NHDF-Ad	bronchial
21	chr22:28426400-28429200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:28426400-28429800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:28426400-28430000	Weak transcription	Psoas Muscle	Psoas
24	chr22:28426400-28430400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:28426400-28430400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:28426400-28430400	Weak transcription	Stomach Mucosa	stomach
27	chr22:28426400-28430600	Weak transcription	Gastric	stomach
28	chr22:28426400-28430600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:28426400-28432000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr22:28426400-28433000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:28426600-28429800	Weak transcription	Fetal Brain Male	brain
32	chr22:28426600-28429800	Weak transcription	Fetal Kidney	kidney
33	chr22:28426600-28430200	Weak transcription	Fetal Intestine Small	intestine
34	chr22:28426600-28430600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:28426800-28430400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr22:28426800-28430800	Weak transcription	Primary T cells from cord blood	blood
37	chr22:28427000-28429400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:28427000-28429400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:28427000-28430200	Weak transcription	Brain Anterior Caudate	brain
40	chr22:28427000-28430200	Weak transcription	Brain Substantia Nigra	brain
41	chr22:28427000-28430200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr22:28427000-28430600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:28427200-28430000	Weak transcription	Brain Angular Gyrus	brain
44	chr22:28427200-28430000	Weak transcription	Brain Hippocampus Middle	brain
45	chr22:28427200-28430400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr22:28427400-28430000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr22:28427400-28430000	Weak transcription	Fetal Brain Female	brain
48	chr22:28427400-28430200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:28427400-28442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:28427600-28430200	Weak transcription	Esophagus	oesophagus

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