Variant report

Variant	rs7286519
Chromosome Location	chr22:28422017-28422018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28421365..28425106-chr22:28428246..28431609,4	MCF-7	breast:
2	chr22:28421666..28423671-chr22:28428407..28430041,2	K562	blood:

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10154425	0.95[EUR][1000 genomes]
rs10212007	0.84[EUR][1000 genomes]
rs10212036	0.86[EUR][1000 genomes]
rs10483140	0.91[EUR][1000 genomes]
rs10483142	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483143	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	0.93[EUR][1000 genomes]
rs12166077	0.93[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	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166389	0.93[EUR][1000 genomes]
rs12166719	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166740	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166912	0.95[EUR][1000 genomes]
rs12166938	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	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168251	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168582	0.91[EUR][1000 genomes]
rs12169097	0.93[EUR][1000 genomes]
rs12169888	0.90[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	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170953	0.90[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	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138642	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs138651	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138653	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138654	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138655	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138656	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs138658	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138669	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138670	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs138671	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138672	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138680	0.82[AFR][1000 genomes]
rs16985763	0.93[EUR][1000 genomes]
rs16985967	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	0.95[EUR][1000 genomes]
rs17390800	0.93[EUR][1000 genomes]
rs17407024	0.91[EUR][1000 genomes]
rs17483887	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17484337	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745562	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28375646	0.97[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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470104	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55856549	0.89[EUR][1000 genomes]
rs56233401	0.95[EUR][1000 genomes]
rs56393679	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57686964	0.95[EUR][1000 genomes]
rs58050941	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.95[EUR][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]
rs73880374	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880375	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880376	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880381	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880382	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880383	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	0.96[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620764	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620766	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620767	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620768	0.80[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625388	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625390	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625391	0.90[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	0.80[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	0.86[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	0.95[EUR][1000 genomes]
rs9625415	0.93[EUR][1000 genomes]
rs9625416	0.95[EUR][1000 genomes]
rs9625417	0.95[EUR][1000 genomes]
rs9625418	0.93[EUR][1000 genomes]
rs9625421	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28396000-28422400	Weak transcription	Primary T cells from cord blood	blood
2	chr22:28397200-28423000	Weak transcription	HepG2	liver
3	chr22:28399400-28425800	Weak transcription	Liver	Liver
4	chr22:28409000-28428000	Genic enhancers	Fetal Muscle Leg	muscle
5	chr22:28409400-28430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:28410200-28423000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:28410200-28423400	Weak transcription	Gastric	stomach
8	chr22:28410400-28424200	Weak transcription	Aorta	Aorta
9	chr22:28411000-28423600	Weak transcription	Fetal Intestine Large	intestine
10	chr22:28412400-28423000	Weak transcription	Adipose Nuclei	Adipose
11	chr22:28416000-28425000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:28416600-28431000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr22:28416800-28423000	Weak transcription	Fetal Kidney	kidney
14	chr22:28416800-28423400	Weak transcription	Pancreas	Pancrea
15	chr22:28416800-28424200	Strong transcription	Fetal Intestine Small	intestine
16	chr22:28416800-28425200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:28417000-28423200	Weak transcription	Brain Anterior Caudate	brain
18	chr22:28417000-28423400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:28417000-28425800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr22:28417200-28423200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:28417200-28424600	Weak transcription	Colonic Mucosa	Colon
22	chr22:28417200-28426000	Weak transcription	Brain Angular Gyrus	brain
23	chr22:28417400-28423000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:28417400-28423200	Weak transcription	Brain Germinal Matrix	brain
25	chr22:28417400-28423200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:28417400-28423800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:28417400-28424200	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:28417400-28424800	Weak transcription	NHLF	lung
29	chr22:28417600-28423200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr22:28417600-28424600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:28417600-28425400	Weak transcription	NHDF-Ad	bronchial
32	chr22:28417800-28423600	Weak transcription	Fetal Lung	lung
33	chr22:28417800-28426200	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr22:28418400-28423200	Weak transcription	Fetal Brain Male	brain
35	chr22:28418400-28424400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:28418600-28423000	Strong transcription	Fetal Stomach	stomach
37	chr22:28418600-28424200	Weak transcription	Placenta	Placenta
38	chr22:28418600-28429800	Strong transcription	Dnd41	blood
39	chr22:28419200-28422400	Weak transcription	Esophagus	oesophagus
40	chr22:28419600-28426000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr22:28419800-28422800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:28419800-28427400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr22:28420000-28422800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:28420000-28423400	Weak transcription	Fetal Thymus	thymus
45	chr22:28420200-28422600	Enhancers	Left Ventricle	heart
46	chr22:28420200-28426400	Enhancers	Psoas Muscle	Psoas
47	chr22:28420400-28425000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:28420400-28425600	Enhancers	Right Ventricle	heart
49	chr22:28420600-28422800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:28420800-28422200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links