Variant report

Variant	rs11594308
Chromosome Location	chr10:191628-191629
allele	A/G
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: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10794721	0.88[EUR][1000 genomes]
rs10903692	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11250289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250419	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250488	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11250528	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11250529	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11250575	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11250790	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11250797	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11251173	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11592007	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11592027	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12360337	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17221197	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17221225	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17221239	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2379049	0.84[EUR][1000 genomes]
rs2448364	0.80[EUR][1000 genomes]
rs4275539	0.82[EUR][1000 genomes]
rs4369322	0.88[EUR][1000 genomes]
rs56217646	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56335464	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61836334	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61836335	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61836338	0.82[AMR][1000 genomes]
rs7089302	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7090608	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7909028	0.89[EUR][1000 genomes]
rs7912326	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9419432	0.80[EUR][1000 genomes]
rs9419493	0.89[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:183000-192600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:183000-196400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:183200-192200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:183200-205400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr10:183400-194600	Weak transcription	Fetal Stomach	stomach
6	chr10:183400-194600	Weak transcription	Gastric	stomach
7	chr10:183400-199400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:183400-200800	Weak transcription	Thymus	Thymus
9	chr10:183600-199000	Weak transcription	HSMM	muscle
10	chr10:183800-191800	Weak transcription	Dnd41	blood
11	chr10:184400-199600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:184400-200200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:184600-200000	Weak transcription	NHLF	lung
14	chr10:185200-198000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:186200-199800	Weak transcription	Right Ventricle	heart
16	chr10:187400-193600	Weak transcription	Fetal Lung	lung
17	chr10:187400-194400	Weak transcription	HepG2	liver
18	chr10:187400-194600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:188000-200400	Weak transcription	Primary B cells from cord blood	blood
20	chr10:188400-193800	Weak transcription	Pancreas	Pancrea
21	chr10:188400-199600	Weak transcription	Ovary	ovary
22	chr10:188400-199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr10:188800-193800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr10:188800-202600	Weak transcription	A549	lung
25	chr10:189000-193800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:189000-196600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:189000-204000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr10:189000-208800	Weak transcription	Small Intestine	intestine
29	chr10:189200-199800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:189200-199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:189200-201800	Weak transcription	Brain Hippocampus Middle	brain
32	chr10:189400-200200	Weak transcription	Fetal Heart	heart
33	chr10:189800-192600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr10:190400-193600	Weak transcription	Right Atrium	heart
35	chr10:190400-200200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:190400-215200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr10:190600-192600	Weak transcription	Psoas Muscle	Psoas
38	chr10:190600-196400	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:190600-203200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:190600-212800	Weak transcription	Left Ventricle	heart
41	chr10:191000-192000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr10:191200-192400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:191400-191800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:191400-199800	Weak transcription	Muscle Satellite Cultured Cells	--

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