Variant report

Variant	rs2860103
Chromosome Location	chr21:41419610-41419611
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:41417842..41420544-chr21:41423404..41426332,2	MCF-7	breast:
2	chr21:41414031..41416656-chr21:41419101..41422098,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10470193	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12627033	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12627061	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1882780	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2142121	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837383	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2837384	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2837405	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2837410	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2837413	0.81[ASN][1000 genomes]
rs2837417	0.86[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2837418	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs28582765	0.90[EUR][1000 genomes]
rs9976662	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9979120	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41399200-41424600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr21:41401600-41421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:41403800-41421600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:41409800-41421200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:41411200-41421000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:41411200-41428800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:41413000-41421200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:41414000-41419800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:41414400-41421600	Weak transcription	Brain Germinal Matrix	brain
10	chr21:41414600-41421200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr21:41414800-41421400	Weak transcription	Fetal Brain Female	brain
12	chr21:41416000-41421200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:41416200-41421800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr21:41418200-41420800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr21:41418200-41421400	Enhancers	Colon Smooth Muscle	Colon
16	chr21:41418600-41427600	Enhancers	Rectal Smooth Muscle	rectum
17	chr21:41418800-41421800	Weak transcription	Brain Hippocampus Middle	brain
18	chr21:41419000-41421400	Enhancers	Stomach Smooth Muscle	stomach
19	chr21:41419000-41422000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr21:41419200-41422400	Enhancers	Fetal Stomach	stomach
21	chr21:41419600-41419800	Enhancers	Right Ventricle	heart
22	chr21:41419600-41420200	Enhancers	NH-A	brain
23	chr21:41419600-41422000	Enhancers	Placenta	Placenta
24	chr21:41419600-41422200	Enhancers	HMEC	breast

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