Variant report

Variant	rs1693498
Chromosome Location	chr15:52795235-52795236
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52793504..52796001-chr15:52818973..52821716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197535	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10851519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12442200	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1612233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693488	1.00[AMR][1000 genomes]
rs1693490	1.00[AMR][1000 genomes]
rs1693491	1.00[AMR][1000 genomes]
rs1693503	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693504	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1724582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1724619	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1724620	0.85[AMR][1000 genomes]
rs2414157	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2462845	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2462852	1.00[AMR][1000 genomes]
rs2646030	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2693464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693471	1.00[AMR][1000 genomes]
rs2950061	0.85[AMR][1000 genomes]
rs7176554	0.82[AFR][1000 genomes];1.00[AMR][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52774600-52802600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:52776400-52796200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:52778600-52812400	Weak transcription	Right Ventricle	heart
4	chr15:52782400-52795600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr15:52782600-52796200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:52784400-52796400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:52784800-52798800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:52785000-52801200	Weak transcription	Right Atrium	heart
9	chr15:52786400-52812400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:52786600-52796400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:52789200-52796000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:52789200-52796000	Weak transcription	NH-A	brain
13	chr15:52789200-52796000	Weak transcription	NHDF-Ad	bronchial
14	chr15:52789400-52795600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr15:52789400-52796000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:52789400-52796000	Weak transcription	Osteobl	bone
17	chr15:52789600-52795600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:52789600-52806600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:52790000-52796400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:52790400-52796000	Weak transcription	NHEK	skin
21	chr15:52791400-52796000	Weak transcription	HSMM	muscle
22	chr15:52791400-52798800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:52791800-52795600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:52791800-52796000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:52791800-52796000	Weak transcription	HSMMtube	muscle
26	chr15:52792000-52796000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:52792000-52796400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:52792000-52801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:52792000-52815200	Weak transcription	NHLF	lung
30	chr15:52792200-52795600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:52792200-52799400	Weak transcription	Brain Angular Gyrus	brain
32	chr15:52793600-52797200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:52793800-52796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:52794400-52795400	Enhancers	Brain Substantia Nigra	brain
35	chr15:52794600-52795800	Enhancers	Primary B cells from cord blood	blood
36	chr15:52794600-52803400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:52794800-52795400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:52794800-52797200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:52794800-52797800	Enhancers	Primary B cells from peripheral blood	blood
40	chr15:52795000-52796000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr15:52795000-52800800	Weak transcription	Brain Anterior Caudate	brain
42	chr15:52795000-52802800	Weak transcription	Colon Smooth Muscle	Colon
43	chr15:52795200-52795400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr15:52795200-52795800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:52795200-52796400	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:52795200-52798800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:52795200-52799000	Enhancers	Primary monocytes fromperipheralblood	blood

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