Variant report

Variant	rs57252038
Chromosome Location	chr11:86600112-86600113
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	chr11:86597472..86600152-chr11:86601900..86604314,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10501631	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898544	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10898548	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11234843	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11234847	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234848	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234849	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234854	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234863	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234864	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225381	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73512476	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73526137	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7931943	0.96[EUR][1000 genomes];0.90[ASN][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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
5	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86578200-86627400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:86582800-86601600	Weak transcription	Left Ventricle	heart
3	chr11:86592400-86601600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:86596600-86605600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:86596800-86607600	Weak transcription	Adipose Nuclei	Adipose
6	chr11:86597200-86617400	Weak transcription	Aorta	Aorta
7	chr11:86597600-86620800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:86597600-86627400	Weak transcription	Ovary	ovary
9	chr11:86598400-86600200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:86598800-86600400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:86598800-86600800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:86599200-86600400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:86599200-86600400	Enhancers	HSMMtube	muscle
14	chr11:86599200-86600600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:86599200-86600800	Enhancers	NHDF-Ad	bronchial
16	chr11:86599400-86600200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:86599400-86600200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:86599400-86600200	Enhancers	NH-A	brain
19	chr11:86599400-86600200	Enhancers	Osteobl	bone
20	chr11:86599400-86600600	Enhancers	HSMM	muscle
21	chr11:86599400-86607600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:86599600-86600200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:86599600-86600400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:86599600-86627600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:86599800-86600200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:86599800-86600400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:86599800-86600600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:86599800-86600600	Enhancers	Fetal Muscle Leg	muscle
29	chr11:86599800-86607400	Weak transcription	Fetal Kidney	kidney
30	chr11:86600000-86601600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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