Variant report

Variant	rs2693463
Chromosome Location	chr15:52781764-52781765
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	chr15:52777384..52780171-chr15:52780757..52785344,4	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1615028	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1669868	0.98[ASN][1000 genomes]
rs1693500	0.95[ASN][1000 genomes]
rs1693511	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1693513	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1693520	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693521	0.95[ASN][1000 genomes]
rs1724584	0.95[ASN][1000 genomes]
rs1724586	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1724613	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724614	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724615	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724617	0.98[ASN][1000 genomes]
rs1917972	0.89[EUR][1000 genomes]
rs2246133	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2444018	0.82[ASN][1000 genomes]
rs2453983	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453984	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2600901	0.82[EUR][1000 genomes]
rs4238392	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7178682	1.00[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52774600-52783800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:52774600-52802600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:52774800-52783200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:52775200-52788400	Weak transcription	Primary B cells from cord blood	blood
5	chr15:52776000-52783800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:52776400-52789000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:52776400-52796200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:52776600-52783800	Enhancers	HUVEC	blood vessel
9	chr15:52776800-52788800	Weak transcription	Osteobl	bone
10	chr15:52777000-52783400	Weak transcription	NHDF-Ad	bronchial
11	chr15:52778000-52781800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr15:52778400-52782600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr15:52778600-52782000	Enhancers	Fetal Heart	heart
14	chr15:52778600-52783000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:52778600-52786200	Weak transcription	Adipose Nuclei	Adipose
16	chr15:52778600-52786200	Weak transcription	A549	lung
17	chr15:52778600-52788600	Weak transcription	Psoas Muscle	Psoas
18	chr15:52778600-52788800	Weak transcription	HSMMtube	muscle
19	chr15:52778600-52812400	Weak transcription	Right Ventricle	heart
20	chr15:52778800-52783800	Weak transcription	HSMM	muscle
21	chr15:52779000-52783000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:52779000-52783400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:52779200-52782200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:52779200-52783000	Weak transcription	Lung	lung
25	chr15:52779200-52783600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:52779200-52783600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr15:52779200-52791600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:52779400-52782600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr15:52779400-52783800	Weak transcription	Colon Smooth Muscle	Colon
30	chr15:52780000-52782400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr15:52780000-52782600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr15:52780200-52783000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:52780200-52784600	Weak transcription	Right Atrium	heart
34	chr15:52780200-52788400	Weak transcription	Left Ventricle	heart
35	chr15:52780200-52791800	Weak transcription	Brain Angular Gyrus	brain
36	chr15:52780400-52782000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:52780400-52783000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:52780600-52782200	Enhancers	Primary T cells from cord blood	blood
39	chr15:52780600-52783600	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:52780800-52781800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr15:52780800-52784400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:52781000-52782000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:52781000-52782600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr15:52781200-52782800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr15:52781200-52783800	Weak transcription	Brain Substantia Nigra	brain
46	chr15:52781400-52782000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:52781400-52782400	Weak transcription	Brain Anterior Caudate	brain
48	chr15:52781400-52791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:52781600-52782000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:52781600-52788400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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