Variant report

Variant	rs57847480
Chromosome Location	chr21:41424466-41424467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41150987..41153241-chr21:41424268..41426163,2	MCF-7	breast:
2	chr21:41416823..41418330-chr21:41423023..41425873,2	MCF-7	breast:
3	chr21:41417842..41420544-chr21:41423404..41426332,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10470192	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2222999	0.81[ASN][1000 genomes]
rs2837395	0.81[ASN][1000 genomes]
rs2837396	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv913745	chr21:41423346-41473566	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 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	chr21:41399200-41424600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr21:41411200-41428800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:41418600-41427600	Enhancers	Rectal Smooth Muscle	rectum
4	chr21:41419800-41426200	Weak transcription	Right Ventricle	heart
5	chr21:41420800-41424600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:41420800-41426200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr21:41420800-41435600	Weak transcription	Aorta	Aorta
8	chr21:41421800-41435400	Weak transcription	Right Atrium	heart
9	chr21:41422000-41425600	Weak transcription	Adipose Nuclei	Adipose
10	chr21:41422000-41426800	Weak transcription	Fetal Lung	lung
11	chr21:41422200-41424600	Weak transcription	Brain Hippocampus Middle	brain
12	chr21:41422200-41426200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:41422400-41424600	Weak transcription	NH-A	brain
14	chr21:41422400-41425600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:41422400-41426000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:41423400-41427200	Enhancers	Colon Smooth Muscle	Colon
17	chr21:41423600-41424600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr21:41423800-41426800	Enhancers	Fetal Brain Male	brain
19	chr21:41423800-41427200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:41423800-41427200	Enhancers	Stomach Smooth Muscle	stomach
21	chr21:41424000-41425400	Enhancers	Brain Anterior Caudate	brain
22	chr21:41424000-41425600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr21:41424200-41425200	Enhancers	Brain Germinal Matrix	brain
24	chr21:41424400-41424800	Enhancers	Brain Angular Gyrus	brain
25	chr21:41424400-41424800	Enhancers	Brain Substantia Nigra	brain
26	chr21:41424400-41425200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:41424400-41425800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr21:41424400-41425800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr21:41424400-41426600	Enhancers	Fetal Brain Female	brain
30	chr21:41424400-41427400	Enhancers	Fetal Stomach	stomach

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