Variant report

Variant	rs73412972
Chromosome Location	chr15:52804504-52804505
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	chr15:52803639..52805946-chr15:52854426..52856630,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13329510	1.00[EUR][1000 genomes];0.87[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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28401713	1.00[ASN][1000 genomes]
rs28415472	1.00[AMR][1000 genomes]
rs28417081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28417825	1.00[EUR][1000 genomes]
rs28483042	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28485735	0.87[ASN][1000 genomes]
rs28510975	1.00[ASN][1000 genomes]
rs28545705	1.00[ASN][1000 genomes]
rs28556791	1.00[EUR][1000 genomes]
rs28570350	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28578651	1.00[ASN][1000 genomes]
rs28581262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642806	1.00[ASN][1000 genomes]
rs28663524	1.00[EUR][1000 genomes]
rs28665952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28673564	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28682547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28687913	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28699673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28729511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28761013	0.87[ASN][1000 genomes]
rs28786736	0.87[ASN][1000 genomes]
rs28795685	0.87[ASN][1000 genomes]
rs28814017	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28814321	0.87[ASN][1000 genomes]
rs28840839	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28876722	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3764226	0.88[ASN][1000 genomes]
rs7168981	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342673	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920195	1.00[EUR][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	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	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52778600-52812400	Weak transcription	Right Ventricle	heart
2	chr15:52786400-52812400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:52789600-52806600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:52792000-52815200	Weak transcription	NHLF	lung
5	chr15:52796800-52811200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:52796800-52819400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:52796800-52820000	Weak transcription	Primary T cells from cord blood	blood
8	chr15:52797000-52815200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:52797400-52810200	Weak transcription	Primary B cells from cord blood	blood
10	chr15:52797600-52819800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr15:52797800-52805800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:52798200-52805800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:52799400-52804600	Enhancers	Brain Angular Gyrus	brain
14	chr15:52800800-52808600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:52801000-52808400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:52801800-52810600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:52802000-52809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr15:52802400-52805200	Enhancers	Brain Anterior Caudate	brain
19	chr15:52802400-52808400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:52802400-52810800	Weak transcription	HSMMtube	muscle
21	chr15:52802800-52805600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:52802800-52809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:52803000-52806600	Weak transcription	Psoas Muscle	Psoas
24	chr15:52803000-52807200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr15:52803400-52806600	Weak transcription	Right Atrium	heart
26	chr15:52803400-52812400	Weak transcription	Left Ventricle	heart
27	chr15:52803400-52812400	Weak transcription	Spleen	Spleen
28	chr15:52803600-52805000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:52803600-52806400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:52803800-52805000	Weak transcription	Adipose Nuclei	Adipose
31	chr15:52803800-52806400	Weak transcription	Brain Substantia Nigra	brain
32	chr15:52803800-52806600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:52803800-52812200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:52803800-52812600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:52803800-52814800	Weak transcription	NHDF-Ad	bronchial
36	chr15:52804000-52805800	Weak transcription	NHEK	skin
37	chr15:52804000-52806600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:52804000-52806600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:52804000-52806600	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:52804000-52808800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr15:52804000-52809200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:52804000-52810600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:52804000-52812400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:52804000-52812600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr15:52804000-52814000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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