Variant report

Variant	rs3912645
Chromosome Location	chr12:10250366-10250367
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	chr12:10248204..10251036-chr12:10254144..10255657,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10772231	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772234	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845032	0.90[EUR][1000 genomes]
rs10845035	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845038	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845039	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845041	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11053577	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11053578	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053580	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12300167	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12370211	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372259	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352477	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1387140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1948184	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1948185	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2087304	0.92[ASN][1000 genomes]
rs2087305	0.91[ASN][1000 genomes]
rs2087306	0.88[ASN][1000 genomes]
rs2087307	0.97[ASN][1000 genomes]
rs2220436	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2277416	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306892	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306894	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2401600	0.97[ASN][1000 genomes]
rs2401601	0.97[ASN][1000 genomes]
rs2401602	0.95[ASN][1000 genomes]
rs2401603	0.95[ASN][1000 genomes]
rs2401604	0.97[ASN][1000 genomes]
rs2401605	0.97[ASN][1000 genomes]
rs2401606	0.97[ASN][1000 genomes]
rs2401607	0.97[ASN][1000 genomes]
rs2401611	0.80[ASN][1000 genomes]
rs2401614	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2401615	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2401616	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3816845	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825300	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3886137	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3887490	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3912644	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3994131	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3994132	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4265666	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4499082	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4595634	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4764247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4764248	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4764249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4764250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4764251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5012088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6416262	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6416263	0.97[ASN][1000 genomes]
rs6488249	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488250	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488252	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488253	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6488254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488258	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488259	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488261	0.88[ASN][1000 genomes]
rs7313750	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953886	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7956208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957278	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960611	0.97[ASN][1000 genomes]
rs7962246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962341	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7969125	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7970083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972187	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974909	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976945	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7977902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7980801	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs952545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs952546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10242800-10253800	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:10245800-10251800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:10247800-10251600	Active TSS	Adipose Nuclei	Adipose
4	chr12:10247800-10252400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:10248800-10251200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:10248800-10251600	Active TSS	Left Ventricle	heart
7	chr12:10248800-10251600	Active TSS	Psoas Muscle	Psoas
8	chr12:10249000-10251600	Active TSS	Right Ventricle	heart
9	chr12:10249000-10252000	Active TSS	Right Atrium	heart
10	chr12:10249400-10250400	Flanking Active TSS	HUVEC	blood vessel
11	chr12:10249400-10251400	Weak transcription	Lung	lung
12	chr12:10249600-10251000	Weak transcription	Placenta	Placenta
13	chr12:10249600-10253400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:10250000-10250600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:10250200-10250400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:10250200-10250400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:10250200-10250600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:10250200-10250600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:10250200-10250600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:10250200-10250800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:10250200-10251200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:10250200-10251400	Weak transcription	Fetal Lung	lung
23	chr12:10250200-10253800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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