Variant report

Variant	rs60099514
Chromosome Location	chr21:28188191-28188192
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28181750..28184261-chr21:28187491..28189634,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13047943	0.87[EUR][1000 genomes]
rs2067899	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2830523	0.85[EUR][1000 genomes]
rs2830533	0.89[EUR][1000 genomes]
rs2830534	0.89[EUR][1000 genomes]
rs2830537	0.89[EUR][1000 genomes]
rs2830545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830546	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57052686	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59042813	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820829	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8127836	0.87[EUR][1000 genomes]
rs872265	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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1066328	chr21:28179782-28200710	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28182600-28192200	Weak transcription	NHEK	skin
2	chr21:28183800-28190200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:28185200-28188400	Enhancers	Hela-S3	cervix
4	chr21:28186200-28188600	Enhancers	HSMM	muscle
5	chr21:28186400-28188200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:28186400-28188400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:28186800-28188200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:28186800-28188200	Enhancers	NHLF	lung
9	chr21:28187000-28192400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:28187400-28192600	Weak transcription	Placenta	Placenta
11	chr21:28187600-28188200	Enhancers	Fetal Heart	heart
12	chr21:28187600-28188200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr21:28187600-28188200	Enhancers	NHDF-Ad	bronchial
14	chr21:28187600-28188600	Enhancers	Fetal Lung	lung
15	chr21:28187600-28190200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:28187800-28188200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:28187800-28188200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr21:28187800-28188200	Enhancers	Brain Anterior Caudate	brain
19	chr21:28187800-28188200	Enhancers	Brain Cingulate Gyrus	brain
20	chr21:28188000-28188200	Enhancers	Brain Hippocampus Middle	brain
21	chr21:28188000-28188200	Flanking Active TSS	HSMMtube	muscle
22	chr21:28188000-28188400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:28188000-28188400	Active TSS	Adipose Nuclei	Adipose
24	chr21:28188000-28188400	Active TSS	Ovary	ovary
25	chr21:28188000-28188400	Active TSS	Right Atrium	heart
26	chr21:28188000-28188400	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr21:28188000-28188400	Active TSS	Osteobl	bone
28	chr21:28188000-28188600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:28188000-28188600	Enhancers	Fetal Brain Male	brain

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