Variant report

Variant	rs72750094
Chromosome Location	chr15:92457507-92457508
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:92396928..92398898-chr15:92456765..92458424,2	MCF-7	breast:
2	chr15:92405637..92408201-chr15:92457507..92459937,2	MCF-7	breast:
3	chr15:92447407..92449423-chr15:92456706..92459112,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176463	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11853482	0.87[EUR][1000 genomes]
rs4078179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561447	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638463	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55767000	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55771916	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55772252	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55792858	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55829293	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55879752	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55908621	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55915922	1.00[AFR][1000 genomes]
rs55919613	0.85[AMR][1000 genomes]
rs56040702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56079643	0.81[AMR][1000 genomes]
rs56079731	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277940	0.85[AMR][1000 genomes]
rs56292826	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56358895	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388730	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56880057	0.85[AMR][1000 genomes]
rs60495981	0.85[AMR][1000 genomes]
rs61742322	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165108	0.84[EUR][1000 genomes]
rs72750051	0.81[AMR][1000 genomes]
rs72750053	0.85[AMR][1000 genomes]
rs72750054	0.85[AMR][1000 genomes]
rs72750059	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750064	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750065	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750067	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750072	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750075	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750081	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750091	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751903	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751904	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751905	0.97[EUR][1000 genomes]
rs72751967	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72751974	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72751975	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72751979	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72751987	1.00[AFR][1000 genomes]
rs72751992	1.00[AFR][1000 genomes]
rs72751994	1.00[AFR][1000 genomes]
rs72754003	1.00[AFR][1000 genomes]
rs72754006	1.00[AFR][1000 genomes]
rs72754008	1.00[AFR][1000 genomes]
rs72754010	1.00[AFR][1000 genomes]
rs72754011	1.00[AFR][1000 genomes]
rs72754013	1.00[AFR][1000 genomes]
rs72754014	1.00[AFR][1000 genomes]
rs72754017	1.00[AFR][1000 genomes]
rs72754018	1.00[AFR][1000 genomes]
rs72754019	1.00[AFR][1000 genomes]
rs72754023	1.00[AFR][1000 genomes]
rs72754086	1.00[AFR][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	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870094	chr15:92367354-92631647	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534110	chr15:92397220-92592961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92433000-92458400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr15:92438000-92459000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:92445600-92460000	Weak transcription	Primary T cells from cord blood	blood
4	chr15:92445800-92462000	Weak transcription	Aorta	Aorta
5	chr15:92446000-92464200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr15:92446600-92458400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:92446800-92462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:92446800-92465000	Weak transcription	Fetal Stomach	stomach
9	chr15:92447400-92459600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr15:92448000-92459600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:92448000-92460800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:92451800-92460600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:92451800-92461000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:92451800-92461600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:92451800-92470200	Weak transcription	Small Intestine	intestine
16	chr15:92452000-92459000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:92452000-92461200	Weak transcription	Osteobl	bone
18	chr15:92452000-92462400	Weak transcription	HMEC	breast
19	chr15:92452000-92465200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:92452400-92458400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:92453000-92459000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:92453400-92459000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:92453400-92460800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:92453400-92466400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr15:92453800-92459600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr15:92454200-92458600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:92454200-92459000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:92454200-92459000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:92454200-92460800	Weak transcription	Adipose Nuclei	Adipose
30	chr15:92455200-92457600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr15:92455200-92457800	Enhancers	Fetal Heart	heart
32	chr15:92455400-92457600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:92455400-92457600	Enhancers	Brain Hippocampus Middle	brain
34	chr15:92455400-92458400	Enhancers	Right Atrium	heart
35	chr15:92455600-92457800	Enhancers	Left Ventricle	heart
36	chr15:92455600-92459200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:92455600-92459600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr15:92455600-92460200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr15:92455800-92458400	Enhancers	Right Ventricle	heart
40	chr15:92455800-92459200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:92455800-92461400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr15:92455800-92462600	Weak transcription	Pancreas	Pancrea
43	chr15:92455800-92464200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr15:92456000-92458000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr15:92456000-92458000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr15:92456200-92459000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:92456200-92459200	Weak transcription	Spleen	Spleen
48	chr15:92456400-92457600	Enhancers	Hela-S3	cervix
49	chr15:92456600-92459000	Weak transcription	Colonic Mucosa	Colon
50	chr15:92456600-92459400	Weak transcription	Brain Substantia Nigra	brain

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