Variant report

Variant	rs4528072
Chromosome Location	chr1:186100247-186100248
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	chr1:186088960..186091770-chr1:186097616..186100480,2	K562	blood:
2	chr1:186098273..186100467-chr1:186120938..186123565,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143341	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10157742	0.82[ASN][1000 genomes]
rs10157924	0.81[ASN][1000 genomes]
rs10489755	0.83[ASN][1000 genomes]
rs10489756	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10752962	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10798037	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911825	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10911826	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10911828	0.86[ASN][1000 genomes]
rs10911829	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12061689	0.83[ASN][1000 genomes]
rs12080760	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12122227	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12124204	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12133656	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12565788	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1322374	0.82[ASN][1000 genomes]
rs1358936	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2057387	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2057388	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2146098	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2224575	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2891230	0.84[EUR][1000 genomes]
rs3737941	0.82[ASN][1000 genomes]
rs3845367	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4535962	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4650694	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4650695	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4651300	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6659783	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6664918	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6673390	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6689111	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6696910	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6698064	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6702313	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6703518	0.82[ASN][1000 genomes]
rs720971	0.81[ASN][1000 genomes]
rs721153	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7512168	0.83[ASN][1000 genomes]
rs7516516	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7543494	0.85[ASN][1000 genomes]
rs7549552	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7552198	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9286859	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9286860	0.90[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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186052200-186118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:186064600-186113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:186072600-186108400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:186072800-186107800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:186073000-186121400	Weak transcription	NH-A	brain
7	chr1:186075000-186113600	Weak transcription	Lung	lung
8	chr1:186076400-186106800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:186079000-186108000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:186080400-186121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:186084400-186106600	Weak transcription	Adipose Nuclei	Adipose
12	chr1:186089400-186107600	Weak transcription	Fetal Lung	lung
13	chr1:186092600-186106800	Weak transcription	Liver	Liver
14	chr1:186092800-186108200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:186100000-186113200	Weak transcription	Left Ventricle	heart
16	chr1:186100000-186113400	Weak transcription	Aorta	Aorta

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