Variant report

Variant	rs12498454
Chromosome Location	chr4:26710736-26710737
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26702251..26704384-chr4:26709889..26711550,2	K562	blood:

Variant related genes	Relation type
ENSG00000200999	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10000211	0.83[EUR][1000 genomes]
rs10939128	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10939131	0.89[AFR][1000 genomes]
rs10939132	0.96[EUR][1000 genomes]
rs10939134	0.98[EUR][1000 genomes]
rs10939135	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1129230	0.95[EUR][1000 genomes]
rs1135204	0.95[EUR][1000 genomes]
rs11721891	0.98[EUR][1000 genomes]
rs11724595	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11726910	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11733702	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11734761	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11931159	0.99[EUR][1000 genomes]
rs11937465	0.97[EUR][1000 genomes]
rs11944010	0.97[EUR][1000 genomes]
rs12501439	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12504472	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12505249	0.84[EUR][1000 genomes]
rs12505393	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12507314	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12510371	0.81[EUR][1000 genomes]
rs12510995	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12640312	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12640932	0.84[AFR][1000 genomes]
rs12644574	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12647180	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13105574	0.81[EUR][1000 genomes]
rs13111381	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13111922	0.84[EUR][1000 genomes]
rs13112222	0.83[EUR][1000 genomes]
rs13121299	0.82[EUR][1000 genomes]
rs13121378	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[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];0.84[ASN][1000 genomes]
rs13138699	0.81[EUR][1000 genomes]
rs13138712	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13146364	0.96[EUR][1000 genomes]
rs13146615	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[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	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34241157	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34837351	0.95[EUR][1000 genomes]
rs35124296	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35232657	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35588742	0.81[EUR][1000 genomes]
rs35654367	0.97[EUR][1000 genomes]
rs4234981	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4321621	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355378	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4692551	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5024581	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55767426	0.82[EUR][1000 genomes]
rs56150091	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58565506	0.92[EUR][1000 genomes]
rs60503601	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60915838	0.97[EUR][1000 genomes]
rs61690082	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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];0.84[ASN][1000 genomes]
rs6858652	0.97[EUR][1000 genomes]
rs7655144	0.96[EUR][1000 genomes]
rs7657453	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7689475	0.83[EUR][1000 genomes];0.93[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:2 , 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

No data

Chromatin state (count:34 , 50 per page) page: 1

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	chr4:26681800-26718600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:26681800-26724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:26684400-26732400	Weak transcription	Fetal Kidney	kidney
6	chr4:26687000-26727000	Weak transcription	Left Ventricle	heart
7	chr4:26692200-26712200	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:26692400-26726400	Weak transcription	Ovary	ovary
9	chr4:26693000-26711000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:26693000-26716000	Weak transcription	HSMM	muscle
11	chr4:26694400-26718600	Weak transcription	Osteobl	bone
12	chr4:26694600-26711600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:26696200-26718800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:26696200-26726400	Weak transcription	Thymus	Thymus
15	chr4:26696200-26775400	Weak transcription	Brain Germinal Matrix	brain
16	chr4:26696400-26718600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:26696400-26726600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:26703400-26711000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:26703800-26715200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:26703800-26718600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:26703800-26718600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:26703800-26718800	Weak transcription	NH-A	brain
23	chr4:26704200-26711000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:26704600-26718600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:26705400-26753200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:26707600-26723400	Weak transcription	Psoas Muscle	Psoas
27	chr4:26707800-26717400	Weak transcription	Gastric	stomach
28	chr4:26709000-26717000	Weak transcription	HSMMtube	muscle
29	chr4:26709000-26750000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:26710000-26711000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr4:26710000-26725600	Weak transcription	Primary T cells from cord blood	blood
32	chr4:26710200-26711600	Enhancers	HUVEC	blood vessel
33	chr4:26710200-26721800	Weak transcription	Primary B cells from cord blood	blood
34	chr4:26710600-26711600	Strong transcription	Fetal Thymus	thymus

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