Variant report

Variant	rs62523111
Chromosome Location	chr8:96009127-96009128
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	chr8:95959655..95961605-chr8:96007143..96009937,2	MCF-7	breast:
2	chr8:96007661..96009980-chr8:96021483..96023958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10098888	0.87[EUR][1000 genomes]
rs10112501	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1563082	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1574312	0.87[EUR][1000 genomes]
rs1962466	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2459966	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2678821	0.82[AMR][1000 genomes]
rs28456359	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55865568	0.87[EUR][1000 genomes]
rs62523084	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62523085	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv524876	chr8:96000919-96027306	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
2	chr8:95987000-96019600	Weak transcription	Lung	lung
3	chr8:95987200-96018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:95993800-96009200	Weak transcription	Primary T cells from cord blood	blood
5	chr8:95997400-96018000	Weak transcription	HSMMtube	muscle
6	chr8:95997600-96009200	Weak transcription	Thymus	Thymus
7	chr8:96000400-96009200	Weak transcription	Brain Angular Gyrus	brain
8	chr8:96000600-96009200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:96001000-96009600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:96001000-96012000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:96001200-96009200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:96001200-96013600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:96001200-96023400	Weak transcription	Liver	Liver
14	chr8:96002000-96009400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:96003200-96032600	Weak transcription	Gastric	stomach
16	chr8:96003400-96009600	Weak transcription	Fetal Lung	lung
17	chr8:96003800-96009200	Weak transcription	Adipose Nuclei	Adipose
18	chr8:96004000-96009200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:96004200-96013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:96004600-96013000	Weak transcription	Left Ventricle	heart
21	chr8:96005400-96009200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:96005800-96010000	Weak transcription	HMEC	breast
23	chr8:96007400-96010600	Enhancers	Dnd41	blood
24	chr8:96008800-96009400	Enhancers	Brain Germinal Matrix	brain
25	chr8:96008800-96011200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:96008800-96011600	Enhancers	Fetal Thymus	thymus
27	chr8:96009000-96009200	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:96009000-96009600	Enhancers	Pancreas	Pancrea
29	chr8:96009000-96010400	Enhancers	Fetal Heart	heart
30	chr8:96009000-96011200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:96009000-96011200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:96009000-96012800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr8:96009000-96036400	Weak transcription	Spleen	Spleen

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