Variant report

Variant	rs28383495
Chromosome Location	chr15:59397962-59397963
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59397310..59398073-chr4:184365225..184365785,2	NB4	blood:
2	chr1:242011094..242011830-chr15:59397312..59398073,2	Hela-S3	cervix:
3	chr15:59397489..59399180-chr15:59409328..59412119,2	K562	blood:
4	chr15:59278921..59283219-chr15:59397062..59399778,7	K562	blood:
5	chr15:59277958..59282108-chr15:59396207..59399778,7	K562	blood:
6	chr15:59395795..59398698-chr15:59981439..59982956,2	K562	blood:
7	chr15:59223805..59226728-chr15:59396182..59398979,2	MCF-7	breast:
8	chr15:59223596..59226559-chr15:59396307..59399219,5	K562	blood:
9	chr15:59224236..59226559-chr15:59396307..59398942,5	K562	blood:
10	chr15:59397702..59398564-chr15:59430160..59431033,3	MCF-7	breast:
11	chr15:59061333..59064034-chr15:59397539..59399245,2	K562	blood:
12	chr15:59397711..59399298-chr15:59819776..59821486,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168564	Chromatin interaction
ENSG00000157450	Chromatin interaction
ENSG00000174371	Chromatin interaction
ENSG00000128923	Chromatin interaction
ENSG00000245975	Chromatin interaction
ENSG00000140299	Chromatin interaction
ENSG00000137776	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10518998	0.94[EUR][1000 genomes]
rs11574500	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11574501	0.89[EUR][1000 genomes]
rs13498	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16940958	0.86[AMR][1000 genomes]
rs16940976	0.86[AMR][1000 genomes]
rs16941012	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16941048	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16941077	0.83[EUR][1000 genomes]
rs28739021	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28739025	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57164516	0.83[EUR][1000 genomes]
rs6494052	0.86[AMR][1000 genomes]
rs6494058	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7164061	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7171252	0.85[AMR][1000 genomes]
rs7173787	0.86[AMR][1000 genomes]
rs7173999	0.89[EUR][1000 genomes]
rs7175697	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7177112	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7180666	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7181728	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74017367	0.89[EUR][1000 genomes]
rs8026039	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8027376	0.89[EUR][1000 genomes]
rs8030514	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8030811	0.86[AMR][1000 genomes]
rs8032299	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8035952	0.86[AMR][1000 genomes]
rs8041633	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8042601	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59396600-59398000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr15:59396600-59398000	Active TSS	Brain Hippocampus Middle	brain
3	chr15:59396600-59398000	Active TSS	Rectal Smooth Muscle	rectum
4	chr15:59396600-59398400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr15:59396600-59398400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:59396600-59398400	Active TSS	Fetal Kidney	kidney
7	chr15:59396600-59398400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr15:59396600-59398600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:59396600-59398800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:59396600-59398800	Active TSS	A549	lung
11	chr15:59396600-59398800	Active TSS	K562	blood
12	chr15:59396600-59399400	Active TSS	NHDF-Ad	bronchial
13	chr15:59396800-59398000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:59396800-59398000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:59396800-59398000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:59396800-59398000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr15:59396800-59398000	Flanking Active TSS	Liver	Liver
18	chr15:59396800-59398000	Active TSS	Brain Angular Gyrus	brain
19	chr15:59396800-59398000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr15:59396800-59398000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:59396800-59398000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr15:59396800-59398000	Active TSS	Fetal Lung	lung
23	chr15:59396800-59398000	Active TSS	Stomach Mucosa	stomach
24	chr15:59396800-59398000	Active TSS	Osteobl	bone
25	chr15:59396800-59398200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:59396800-59398200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:59396800-59398200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr15:59396800-59398200	Active TSS	Placenta	Placenta
29	chr15:59396800-59398400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:59396800-59398400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr15:59396800-59398400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:59396800-59398400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr15:59396800-59398400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:59396800-59398400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:59396800-59398400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:59396800-59398400	Active TSS	Fetal Intestine Large	intestine
37	chr15:59396800-59398400	Active TSS	Fetal Intestine Small	intestine
38	chr15:59396800-59398400	Active TSS	Placenta Amnion	Placenta Amnion
39	chr15:59396800-59398600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr15:59396800-59398600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr15:59396800-59398600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr15:59396800-59398600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:59396800-59398600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:59396800-59398800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr15:59396800-59398800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:59396800-59399000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr15:59396800-59399000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:59396800-59399000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:59397000-59398000	Active TSS	Colon Smooth Muscle	Colon
50	chr15:59397000-59398000	Active TSS	Gastric	stomach

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