Variant report

Variant	rs12504472
Chromosome Location	chr4:26724852-26724853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10000211	0.83[EUR][1000 genomes]
rs10939128	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10939131	0.82[AFR][1000 genomes]
rs10939132	0.96[EUR][1000 genomes]
rs10939134	0.98[EUR][1000 genomes]
rs10939135	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1129230	0.95[EUR][1000 genomes]
rs1135204	0.95[EUR][1000 genomes]
rs11721891	0.98[EUR][1000 genomes]
rs11724595	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11726910	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11733702	0.85[EUR][1000 genomes]
rs11734761	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11931159	0.99[EUR][1000 genomes]
rs11937465	0.97[EUR][1000 genomes]
rs11944010	0.97[EUR][1000 genomes]
rs12498454	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12501439	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12505249	0.84[EUR][1000 genomes]
rs12505393	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12507314	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12510371	0.81[EUR][1000 genomes]
rs12510995	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12640312	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12644574	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12647180	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13105574	0.81[EUR][1000 genomes]
rs13111381	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13111922	0.84[EUR][1000 genomes]
rs13112222	0.83[EUR][1000 genomes]
rs13121299	0.82[EUR][1000 genomes]
rs13121378	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13123511	0.95[EUR][1000 genomes]
rs13125612	0.96[EUR][1000 genomes]
rs13131355	0.98[EUR][1000 genomes]
rs13136955	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13138699	0.81[EUR][1000 genomes]
rs13138712	0.85[EUR][1000 genomes]
rs13146364	0.96[EUR][1000 genomes]
rs13146615	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13151477	0.95[EUR][1000 genomes]
rs1565303	0.83[EUR][1000 genomes]
rs1565304	0.82[EUR][1000 genomes]
rs1619573	0.83[EUR][1000 genomes]
rs1861470	0.88[EUR][1000 genomes]
rs2111006	0.82[EUR][1000 genomes]
rs2309413	0.82[EUR][1000 genomes]
rs260934	0.88[EUR][1000 genomes]
rs260935	0.88[EUR][1000 genomes]
rs260937	0.85[EUR][1000 genomes]
rs260939	0.83[EUR][1000 genomes]
rs260948	0.80[EUR][1000 genomes]
rs260950	0.80[EUR][1000 genomes]
rs260956	0.81[EUR][1000 genomes]
rs260958	0.82[EUR][1000 genomes]
rs260959	0.83[EUR][1000 genomes]
rs260960	0.83[EUR][1000 genomes]
rs2908823	0.81[EUR][1000 genomes]
rs34010107	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34241157	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34837351	0.95[EUR][1000 genomes]
rs35124296	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35232657	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35588742	0.81[EUR][1000 genomes]
rs35654367	0.97[EUR][1000 genomes]
rs4234981	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4321621	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4355378	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4365714	0.96[EUR][1000 genomes]
rs4437235	0.98[EUR][1000 genomes]
rs4467548	0.96[EUR][1000 genomes]
rs4527463	0.98[EUR][1000 genomes]
rs4588446	0.94[EUR][1000 genomes]
rs4590010	0.98[EUR][1000 genomes]
rs4602486	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4692551	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5024581	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55767426	0.82[EUR][1000 genomes]
rs56150091	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58565506	0.92[EUR][1000 genomes]
rs60503601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60915838	0.97[EUR][1000 genomes]
rs61690082	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62299027	0.94[EUR][1000 genomes]
rs62300967	0.95[EUR][1000 genomes]
rs62300968	0.95[EUR][1000 genomes]
rs62412678	0.97[EUR][1000 genomes]
rs6448458	0.82[EUR][1000 genomes]
rs67655603	0.81[EUR][1000 genomes]
rs6821370	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6858652	0.97[EUR][1000 genomes]
rs7655144	0.96[EUR][1000 genomes]
rs7657453	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7658999	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7672267	0.97[EUR][1000 genomes]
rs7683324	0.94[EUR][1000 genomes]
rs7687087	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7689475	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9790514	0.98[EUR][1000 genomes]
rs9790776	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878768	chr4:26625185-26766687	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1822380	chr4:26690284-26726780	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26666800-26732200	Weak transcription	Aorta	Aorta
2	chr4:26681400-26732400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:26684400-26732400	Weak transcription	Fetal Kidney	kidney
4	chr4:26687000-26727000	Weak transcription	Left Ventricle	heart
5	chr4:26692400-26726400	Weak transcription	Ovary	ovary
6	chr4:26696200-26726400	Weak transcription	Thymus	Thymus
7	chr4:26696200-26775400	Weak transcription	Brain Germinal Matrix	brain
8	chr4:26696400-26726600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:26705400-26753200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:26709000-26750000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:26710000-26725600	Weak transcription	Primary T cells from cord blood	blood
12	chr4:26711200-26745200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:26711200-26750000	Weak transcription	Adipose Nuclei	Adipose
14	chr4:26711400-26771800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:26711600-26746200	Weak transcription	Dnd41	blood
16	chr4:26714600-26728800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:26715600-26732200	Weak transcription	Fetal Stomach	stomach
18	chr4:26716200-26750200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:26716800-26748400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:26717600-26732200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:26718000-26754400	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:26719200-26725200	Weak transcription	HSMMtube	muscle
23	chr4:26719200-26735400	Weak transcription	Fetal Brain Male	brain
24	chr4:26719200-26736200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:26719200-26743200	Weak transcription	NHLF	lung
26	chr4:26719200-26744400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:26719400-26725000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:26719400-26732400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:26719400-26732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:26719400-26780800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:26719600-26726400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:26719600-26732800	Weak transcription	NHEK	skin
33	chr4:26719600-26749800	Weak transcription	HMEC	breast
34	chr4:26720200-26727000	Weak transcription	Fetal Lung	lung
35	chr4:26720400-26732600	Weak transcription	NHDF-Ad	bronchial
36	chr4:26720400-26750000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:26720600-26725000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:26721400-26725800	Strong transcription	HSMM	muscle
39	chr4:26721600-26731000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:26721800-26726200	Strong transcription	Fetal Thymus	thymus
41	chr4:26722000-26730400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:26722200-26743600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:26722400-26729200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr4:26722400-26734800	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:26722600-26748800	Weak transcription	Primary B cells from cord blood	blood
46	chr4:26722600-26758800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:26723000-26726000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:26723000-26744800	Weak transcription	Brain Anterior Caudate	brain
49	chr4:26723200-26725200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:26723200-26725200	Enhancers	Fetal Heart	heart

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