Variant report

Variant	rs11053582
Chromosome Location	chr12:10253228-10253229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1001449	0.95[ASN][1000 genomes]
rs11053572	0.98[ASN][1000 genomes]
rs11053573	0.94[ASN][1000 genomes]
rs11053574	0.94[ASN][1000 genomes]
rs11053587	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053588	1.00[ASN][1000 genomes]
rs11053590	0.93[ASN][1000 genomes]
rs11533515	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11561164	0.98[ASN][1000 genomes]
rs11832093	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838264	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12301411	0.98[ASN][1000 genomes]
rs1532087	0.95[ASN][1000 genomes]
rs16910075	0.94[ASN][1000 genomes]
rs2291158	0.98[ASN][1000 genomes]
rs2401608	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55738961	1.00[ASN][1000 genomes]
rs55767325	1.00[ASN][1000 genomes]
rs59801652	0.93[ASN][1000 genomes]
rs61441743	0.95[ASN][1000 genomes]
rs7979266	0.94[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10242800-10253800	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:10249600-10253400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:10250200-10253800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:10250600-10254200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:10251000-10254600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:10251400-10255400	Enhancers	Placenta	Placenta
7	chr12:10251600-10253400	Weak transcription	Adipose Nuclei	Adipose
8	chr12:10251600-10253400	Weak transcription	Fetal Kidney	kidney
9	chr12:10251600-10253400	Weak transcription	Fetal Lung	lung
10	chr12:10251600-10253400	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:10251600-10253400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:10251600-10253600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:10251600-10253600	Weak transcription	Left Ventricle	heart
14	chr12:10251600-10253600	Weak transcription	Lung	lung
15	chr12:10251600-10253800	Weak transcription	Fetal Thymus	thymus
16	chr12:10251600-10253800	Weak transcription	Ovary	ovary
17	chr12:10251800-10253400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:10251800-10253400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:10251800-10253400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:10251800-10253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:10251800-10253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:10251800-10253800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:10251800-10253800	Weak transcription	Esophagus	oesophagus
24	chr12:10251800-10253800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:10252000-10253400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:10252000-10253400	Enhancers	Colon Smooth Muscle	Colon
27	chr12:10252000-10253400	Weak transcription	Right Atrium	heart
28	chr12:10252000-10253400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:10252000-10253600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:10252000-10253600	Weak transcription	HUVEC	blood vessel
31	chr12:10252000-10253800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:10252400-10254000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:10252400-10255800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:10252600-10253400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:10252600-10253800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:10252800-10253800	Weak transcription	Small Intestine	intestine
37	chr12:10253000-10255000	Enhancers	Fetal Stomach	stomach
38	chr12:10253200-10255000	Enhancers	Placenta Amnion	Placenta Amnion

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