Variant report

Variant	rs11250488
Chromosome Location	chr10:197523-197524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10794721	0.83[EUR][1000 genomes]
rs10903692	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11250289	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11250292	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11250419	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11250528	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11250529	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11250575	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11250790	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11250797	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11251173	0.82[EUR][1000 genomes]
rs11592007	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11592027	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11594308	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12360337	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17221197	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17221225	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17221239	0.82[EUR][1000 genomes]
rs2379049	0.86[EUR][1000 genomes]
rs2448364	0.82[EUR][1000 genomes]
rs2448366	0.80[EUR][1000 genomes]
rs4275539	0.89[EUR][1000 genomes]
rs4369322	0.84[EUR][1000 genomes]
rs56217646	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56335464	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61836334	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61836335	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61836338	0.81[AMR][1000 genomes]
rs7089302	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7090608	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7909028	0.83[EUR][1000 genomes]
rs7912326	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9419432	0.82[EUR][1000 genomes]
rs9419493	0.84[EUR][1000 genomes]
rs9419496	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531919	chr10:60001-668649	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1040332	chr10:72797-244561	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1044775	chr10:72797-250662	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1047868	chr10:72797-259003	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1048232	chr10:72797-274675	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:183200-205400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr10:183400-199400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:183400-200800	Weak transcription	Thymus	Thymus
4	chr10:183600-199000	Weak transcription	HSMM	muscle
5	chr10:184400-199600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:184400-200200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:184600-200000	Weak transcription	NHLF	lung
8	chr10:185200-198000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:186200-199800	Weak transcription	Right Ventricle	heart
10	chr10:188000-200400	Weak transcription	Primary B cells from cord blood	blood
11	chr10:188400-199600	Weak transcription	Ovary	ovary
12	chr10:188400-199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr10:188800-202600	Weak transcription	A549	lung
14	chr10:189000-204000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr10:189000-208800	Weak transcription	Small Intestine	intestine
16	chr10:189200-199800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:189200-199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:189200-201800	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:189400-200200	Weak transcription	Fetal Heart	heart
20	chr10:190400-200200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:190400-215200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr10:190600-203200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:190600-212800	Weak transcription	Left Ventricle	heart
24	chr10:191400-199800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr10:194000-199800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr10:194000-211400	Weak transcription	Fetal Lung	lung
27	chr10:194200-228200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:194600-210400	Weak transcription	Primary T cells from cord blood	blood
29	chr10:194800-200200	Weak transcription	Gastric	stomach
30	chr10:194800-206200	Weak transcription	Pancreas	Pancrea
31	chr10:194800-212600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr10:195400-207000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr10:196400-206200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:196800-215000	Weak transcription	Fetal Intestine Large	intestine
35	chr10:197000-200800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:197000-209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:197200-200000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr10:197200-200200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:197400-209200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:197400-210400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr10:197400-211200	Weak transcription	Fetal Muscle Trunk	muscle

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