Variant report

Variant	rs28690952
Chromosome Location	chr15:51485247-51485248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51484634..51485511-chr16:2888844..2889529,2	MCF-7	breast:
2	chr15:51454976..51455746-chr15:51484313..51485568,10	K562	blood:
3	chr15:51200160..51201082-chr15:51484809..51485384,2	MCF-7	breast:
4	chr15:51483971..51486139-chr15:51497136..51498928,2	MCF-7	breast:
5	chr15:51231395..51232343-chr15:51484621..51485285,2	MCF-7	breast:
6	chr15:51454546..51455758-chr15:51484358..51485620,11	MCF-7	breast:
7	chr15:51236074..51236844-chr15:51484819..51485462,2	MCF-7	breast:
8	chr15:51455156..51457220-chr15:51483555..51485672,2	MCF-7	breast:
9	chr15:51453050..51456632-chr15:51484073..51486143,44	MCF-7	breast:
10	chr15:51483090..51486034-chr15:51487701..51490118,2	K562	blood:
11	chr15:51453550..51456646-chr15:51483594..51486501,4	MCF-7	breast:
12	chr15:51425036..51425713-chr15:51484663..51485513,3	MCF-7	breast:
13	chr15:51484722..51485709-chr15:51673245..51674090,4	MCF-7	breast:
14	chr15:51424780..51426009-chr15:51484368..51485483,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081014	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13329666	0.83[AFR][1000 genomes]
rs28403476	1.00[AFR][1000 genomes]
rs28435883	0.83[AFR][1000 genomes]
rs28460633	1.00[AFR][1000 genomes]
rs28495443	0.83[AFR][1000 genomes]
rs28530498	0.83[AFR][1000 genomes]
rs28533742	1.00[AFR][1000 genomes]
rs28570117	0.83[AFR][1000 genomes]
rs28606510	0.83[AFR][1000 genomes]
rs28650339	0.83[AFR][1000 genomes]
rs28670428	1.00[AFR][1000 genomes]
rs28672180	0.83[AFR][1000 genomes]
rs28674058	1.00[AFR][1000 genomes]
rs28714208	1.00[AFR][1000 genomes]
rs28893210	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51476600-51485600	Weak transcription	Right Atrium	heart
2	chr15:51482000-51485400	Enhancers	Fetal Heart	heart
3	chr15:51482200-51485600	Enhancers	Fetal Muscle Trunk	muscle
4	chr15:51482600-51485400	Enhancers	Placenta	Placenta
5	chr15:51483200-51485400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:51483800-51491200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:51484000-51485800	Enhancers	Brain Hippocampus Middle	brain
8	chr15:51484000-51485800	Enhancers	Brain Substantia Nigra	brain
9	chr15:51484000-51485800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr15:51484000-51486000	Enhancers	HSMM	muscle
11	chr15:51484000-51486200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr15:51484000-51491400	Weak transcription	HSMMtube	muscle
13	chr15:51484400-51485400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr15:51484600-51485400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr15:51484600-51485600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:51484600-51485600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:51484600-51485600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:51484800-51485400	Enhancers	Adipose Nuclei	Adipose
19	chr15:51484800-51485400	Bivalent Enhancer	Hela-S3	cervix
20	chr15:51484800-51485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:51484800-51486000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:51484800-51486000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:51484800-51486800	Enhancers	NHDF-Ad	bronchial
24	chr15:51485000-51485400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:51485000-51485400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:51485000-51485400	Bivalent Enhancer	HUVEC	blood vessel
27	chr15:51485000-51486000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:51485000-51486000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr15:51485200-51485400	Enhancers	Aorta	Aorta
30	chr15:51485200-51485400	Enhancers	Brain Angular Gyrus	brain
31	chr15:51485200-51485400	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr15:51485200-51485400	Enhancers	Brain Cingulate Gyrus	brain
33	chr15:51485200-51485400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
34	chr15:51485200-51485400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr15:51485200-51485400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr15:51485200-51485400	Bivalent Enhancer	NHEK	skin
37	chr15:51485200-51485600	Weak transcription	Spleen	Spleen
38	chr15:51485200-51485600	Enhancers	Osteobl	bone
39	chr15:51485200-51486000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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