Variant report

Variant	rs11250419
Chromosome Location	chr10:191107-191108
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:187321..189950-chr10:190667..193548,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10794721	0.86[EUR][1000 genomes]
rs10903692	0.82[AMR][1000 genomes]
rs11250289	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250292	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250488	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11250528	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11250529	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11250575	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11250790	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11250797	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11592007	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11592027	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11594308	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360337	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17221197	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17221225	0.82[AMR][1000 genomes]
rs2379049	0.82[EUR][1000 genomes]
rs4275539	0.82[EUR][1000 genomes]
rs4369322	0.86[EUR][1000 genomes]
rs56217646	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56335464	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61836334	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61836335	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61836338	0.81[AMR][1000 genomes]
rs7089302	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7090608	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7909028	0.87[EUR][1000 genomes]
rs7912326	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9419493	0.87[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:183000-191200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:183000-192600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:183000-196400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:183200-192200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:183200-205400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr10:183400-194600	Weak transcription	Fetal Stomach	stomach
7	chr10:183400-194600	Weak transcription	Gastric	stomach
8	chr10:183400-199400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:183400-200800	Weak transcription	Thymus	Thymus
10	chr10:183600-199000	Weak transcription	HSMM	muscle
11	chr10:183800-191800	Weak transcription	Dnd41	blood
12	chr10:184400-191400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:184400-199600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:184400-200200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:184600-200000	Weak transcription	NHLF	lung
16	chr10:185200-198000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:186200-199800	Weak transcription	Right Ventricle	heart
18	chr10:187400-191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:187400-193600	Weak transcription	Fetal Lung	lung
20	chr10:187400-194400	Weak transcription	HepG2	liver
21	chr10:187400-194600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:187600-191400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:188000-200400	Weak transcription	Primary B cells from cord blood	blood
24	chr10:188400-193800	Weak transcription	Pancreas	Pancrea
25	chr10:188400-199600	Weak transcription	Ovary	ovary
26	chr10:188400-199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:188800-193800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr10:188800-202600	Weak transcription	A549	lung
29	chr10:189000-193800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:189000-196600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:189000-204000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr10:189000-208800	Weak transcription	Small Intestine	intestine
33	chr10:189200-199800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:189200-199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:189200-201800	Weak transcription	Brain Hippocampus Middle	brain
36	chr10:189400-200200	Weak transcription	Fetal Heart	heart
37	chr10:189800-192600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr10:190400-193600	Weak transcription	Right Atrium	heart
39	chr10:190400-200200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:190400-215200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr10:190600-192600	Weak transcription	Psoas Muscle	Psoas
42	chr10:190600-196400	Weak transcription	Colon Smooth Muscle	Colon
43	chr10:190600-203200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:190600-212800	Weak transcription	Left Ventricle	heart
45	chr10:191000-191200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:191000-192000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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