Variant report

Variant	rs1693520
Chromosome Location	chr15:52754274-52754275
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1615028	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1669868	0.98[ASN][1000 genomes]
rs1693500	0.95[ASN][1000 genomes]
rs1693511	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1693513	0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1693521	0.95[ASN][1000 genomes]
rs1724584	0.95[ASN][1000 genomes]
rs1724586	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1724613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724615	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724617	0.98[ASN][1000 genomes]
rs1917972	0.96[EUR][1000 genomes]
rs2246133	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2444018	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2453983	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453984	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2600901	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2693463	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238392	1.00[AMR][1000 genomes];0.93[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52740400-52756200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr15:52742000-52755800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr15:52743800-52758200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:52748200-52755600	Weak transcription	Primary B cells from cord blood	blood
5	chr15:52749600-52756600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:52751800-52756400	Weak transcription	Lung	lung
7	chr15:52753000-52754800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:52753000-52755400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr15:52753200-52758600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:52753400-52755600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:52753400-52755800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr15:52753400-52756200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:52753400-52756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:52753400-52756800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:52753400-52758200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr15:52753400-52758400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:52753600-52754400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:52753600-52762600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:52753800-52755200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:52753800-52755200	Weak transcription	A549	lung
21	chr15:52753800-52755400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:52753800-52755800	Weak transcription	NHDF-Ad	bronchial
23	chr15:52753800-52758000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:52754000-52755000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:52754000-52755000	Weak transcription	HUVEC	blood vessel
26	chr15:52754000-52755200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:52754000-52755200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr15:52754000-52755200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:52754000-52755400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr15:52754000-52755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:52754000-52755800	Weak transcription	NH-A	brain
32	chr15:52754000-52755800	Weak transcription	NHEK	skin
33	chr15:52754000-52756400	Weak transcription	HMEC	breast
34	chr15:52754000-52756600	Weak transcription	Aorta	Aorta
35	chr15:52754000-52756800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr15:52754000-52757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:52754200-52754600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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