Variant report

Variant	rs2423567
Chromosome Location	chr20:11523995-11523996
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:10652762..10656895-chr20:11522956..11525933,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270792	Chromatin interaction
ENSG00000101384	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2207908	0.82[EUR][1000 genomes]
rs2224183	0.82[EUR][1000 genomes]
rs2423550	0.82[EUR][1000 genomes]
rs2423553	0.82[EUR][1000 genomes]
rs2423555	0.82[EUR][1000 genomes]
rs2423558	0.82[EUR][1000 genomes]
rs2423559	0.95[EUR][1000 genomes]
rs2423568	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2423569	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2423570	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2423576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2423577	0.81[AMR][1000 genomes]
rs57653747	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1851689	chr20:11515516-11758411	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11522000-11524000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:11522200-11524000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr20:11522200-11524200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr20:11523200-11524000	Enhancers	HMEC	breast
5	chr20:11523200-11524200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr20:11523200-11524600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr20:11523200-11525200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:11523200-11525200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr20:11523400-11525000	Enhancers	HUVEC	blood vessel
10	chr20:11523400-11525200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr20:11523600-11524000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr20:11523600-11524400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:11523600-11524400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:11523600-11524600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr20:11523600-11524600	Enhancers	NH-A	brain
16	chr20:11523600-11524800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr20:11523600-11524800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr20:11523600-11525200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr20:11523600-11525200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr20:11523600-11525200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr20:11523600-11525200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr20:11523600-11525200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr20:11523600-11525200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr20:11523600-11525200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:11523600-11525200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:11523600-11525200	Enhancers	Fetal Intestine Small	intestine
27	chr20:11523800-11524200	Enhancers	NHEK	skin
28	chr20:11523800-11524400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr20:11523800-11524600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr20:11523800-11524600	Enhancers	Brain Substantia Nigra	brain
31	chr20:11523800-11524800	Enhancers	HepG2	liver
32	chr20:11523800-11525200	Flanking Active TSS	A549	lung

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