Variant report

Variant	rs28570350
Chromosome Location	chr15:52743644-52743645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52742248..52744270-chr15:52748273..52751155,2	K562	blood:
2	chr15:52742454..52744059-chr15:52970057..52972688,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047346	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13329417	0.87[ASN][1000 genomes]
rs13329510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693516	1.00[EUR][1000 genomes]
rs1693517	1.00[EUR][1000 genomes]
rs1693519	1.00[EUR][1000 genomes]
rs1724599	1.00[EUR][1000 genomes]
rs1724600	1.00[EUR][1000 genomes]
rs1724602	1.00[EUR][1000 genomes]
rs2222656	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28401713	0.87[ASN][1000 genomes]
rs28415472	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28417081	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28417825	1.00[EUR][1000 genomes]
rs28421476	0.87[ASN][1000 genomes]
rs28483042	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485251	0.87[ASN][1000 genomes]
rs28485735	1.00[ASN][1000 genomes]
rs28499517	0.87[ASN][1000 genomes]
rs28510975	0.87[ASN][1000 genomes]
rs28545705	0.87[ASN][1000 genomes]
rs28556791	1.00[EUR][1000 genomes]
rs28578651	0.87[ASN][1000 genomes]
rs28581262	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28613360	0.87[ASN][1000 genomes]
rs28642806	0.87[ASN][1000 genomes]
rs28663524	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28665952	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28673564	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28682547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28687913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28699673	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28729511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28761013	1.00[ASN][1000 genomes]
rs28786736	1.00[ASN][1000 genomes]
rs28795685	1.00[ASN][1000 genomes]
rs28814017	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28814321	1.00[ASN][1000 genomes]
rs28840839	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28876722	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168981	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73412972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73412975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7342673	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9920195	1.00[EUR][1000 genomes];0.87[ASN][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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054899	chr15:52662365-52803756	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52730400-52744600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr15:52732600-52750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:52734400-52743800	Weak transcription	Brain Angular Gyrus	brain
4	chr15:52734600-52753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:52734800-52743800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:52734800-52747400	Weak transcription	HSMM	muscle
7	chr15:52738000-52743800	Weak transcription	Brain Anterior Caudate	brain
8	chr15:52738800-52744600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:52739000-52751800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:52739000-52753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:52740400-52756200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr15:52740600-52744200	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:52740600-52753200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:52741200-52743800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:52742000-52755800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:52742200-52751600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:52742200-52753000	Weak transcription	NHEK	skin
18	chr15:52742400-52744400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr15:52742400-52744600	Weak transcription	Left Ventricle	heart
20	chr15:52743200-52744200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:52743400-52743800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:52743400-52744800	Enhancers	Right Atrium	heart
23	chr15:52743600-52743800	Enhancers	Right Ventricle	heart
24	chr15:52743600-52744800	Enhancers	Brain Cingulate Gyrus	brain
25	chr15:52743600-52744800	Enhancers	Skeletal Muscle Female	skeletal muscle

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