Variant report

Variant	rs11057417
Chromosome Location	chr12:124508555-124508556
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10846587	0.94[EUR][1000 genomes]
rs10846588	0.94[EUR][1000 genomes]
rs10846590	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10846594	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10846595	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10846596	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11057416	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11057423	0.94[EUR][1000 genomes]
rs11057424	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11057428	0.96[EUR][1000 genomes]
rs11057431	0.95[EUR][1000 genomes]
rs11057432	0.94[EUR][1000 genomes]
rs11057435	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11057440	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11057444	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11057445	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11057446	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11057447	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11057449	1.00[AFR][1000 genomes]
rs11611852	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12367007	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1402332	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55835646	1.00[AFR][1000 genomes];0.90[EUR][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	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124497400-124508800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:124497400-124509000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:124497800-124508800	Weak transcription	HMEC	breast
5	chr12:124497800-124508800	Weak transcription	NHEK	skin
6	chr12:124497800-124511000	Weak transcription	Psoas Muscle	Psoas
7	chr12:124497800-124511200	Weak transcription	Fetal Brain Male	brain
8	chr12:124497800-124511400	Weak transcription	Gastric	stomach
9	chr12:124497800-124511600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:124498000-124508800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:124498000-124508800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:124498000-124509000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:124498000-124510800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:124498000-124511000	Weak transcription	HUVEC	blood vessel
15	chr12:124498200-124508600	Weak transcription	HSMMtube	muscle
16	chr12:124498200-124510800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:124498400-124508800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:124498400-124508800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:124498400-124508800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:124498400-124509600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:124498400-124511000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:124498400-124511000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:124498400-124511600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:124498400-124514600	Weak transcription	Spleen	Spleen
25	chr12:124498400-124517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:124498600-124508800	Weak transcription	Primary B cells from cord blood	blood
27	chr12:124498600-124508800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:124498600-124509000	Weak transcription	NH-A	brain
29	chr12:124498800-124511200	Weak transcription	Hela-S3	cervix
30	chr12:124499000-124508800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:124499400-124508600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:124499600-124521400	Weak transcription	Brain Germinal Matrix	brain
33	chr12:124500200-124508800	Weak transcription	HSMM	muscle
34	chr12:124500400-124513800	Weak transcription	Fetal Kidney	kidney
35	chr12:124500600-124509400	Weak transcription	Lung	lung
36	chr12:124500600-124510800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:124500600-124511000	Weak transcription	Aorta	Aorta
38	chr12:124500600-124511200	Weak transcription	NHLF	lung
39	chr12:124500800-124514600	Weak transcription	Fetal Brain Female	brain
40	chr12:124501800-124509800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:124502200-124509200	Weak transcription	Fetal Heart	heart
42	chr12:124503600-124508800	Weak transcription	Primary T cells from cord blood	blood
43	chr12:124505800-124508800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:124505800-124509200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:124505800-124509200	Weak transcription	Fetal Stomach	stomach
46	chr12:124505800-124509400	Weak transcription	Left Ventricle	heart
47	chr12:124505800-124511000	Weak transcription	Right Atrium	heart
48	chr12:124506000-124508600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:124506000-124508800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:124506000-124509800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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