Variant report

Variant	rs28452820
Chromosome Location	chr15:50967625-50967626
allele	C/T
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50967277..50972737-chr15:50976604..50980349,6	K562	blood:
2	chr15:50967384..50968440-chr15:51199299..51199841,3	K562	blood:
3	chr15:50966474..50968190-chr15:51199130..51200749,2	K562	blood:
4	chr15:50967599..50968454-chr15:51200392..51201306,2	MCF-7	breast:
5	chr15:50966047..50970596-chr15:50977170..50981090,8	MCF-7	breast:
6	chr15:50966292..50969121-chr15:50972031..50974489,2	MCF-7	breast:
7	chr15:50966245..50970616-chr15:51167760..51171279,6	MCF-7	breast:
8	chr15:50967409..50968619-chr15:51168790..51169663,6	MCF-7	breast:
9	chr15:50967579..50968379-chr15:51200321..51201215,3	MCF-7	breast:
10	chr15:50967518..50968536-chr15:51177697..51178744,10	MCF-7	breast:
11	chr15:50967277..50971485-chr15:50976604..50981014,4	K562	blood:
12	chr15:50965673..50968390-chr15:50973534..50976519,4	MCF-7	breast:
13	chr15:50962661..50965570-chr15:50966953..50968681,2	MCF-7	breast:
14	chr15:50967262..50968901-chr15:51168741..51169920,12	MCF-7	breast:
15	chr15:50952539..50954101-chr15:50965400..50967818,2	MCF-7	breast:
16	chr15:50967034..50970898-chr15:50976195..50981538,7	MCF-7	breast:
17	chr15:50967423..50968891-chr15:51177782..51178702,3	MCF-7	breast:
18	chr15:50967058..50969955-chr15:51199696..51202065,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000092439	Chromatin interaction
ENSG00000081014	Chromatin interaction
ENSG00000243027	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12101792	1.00[AFR][1000 genomes]
rs12102160	1.00[AFR][1000 genomes]
rs16963806	0.95[AFR][1000 genomes]
rs16963808	0.95[AFR][1000 genomes]
rs16963812	0.95[AFR][1000 genomes]
rs28422095	0.95[AFR][1000 genomes]
rs28464149	0.95[AFR][1000 genomes]
rs28478598	0.95[AFR][1000 genomes]
rs28504102	0.95[AFR][1000 genomes]
rs28575682	1.00[AFR][1000 genomes]
rs28613018	0.95[AFR][1000 genomes]
rs28699109	0.95[AFR][1000 genomes]
rs28763655	0.95[AFR][1000 genomes]
rs28806878	1.00[AFR][1000 genomes]
rs28828095	0.95[AFR][1000 genomes]
rs55996689	0.95[AFR][1000 genomes]
rs56277600	0.95[AFR][1000 genomes]
rs58579351	0.95[AFR][1000 genomes]
rs58700289	0.95[AFR][1000 genomes]
rs58899101	0.92[AFR][1000 genomes]
rs58959948	0.95[AFR][1000 genomes]
rs59036721	0.95[AFR][1000 genomes]
rs60192084	0.95[AFR][1000 genomes]
rs61216053	0.95[AFR][1000 genomes]
rs73395523	0.95[AFR][1000 genomes]
rs73395527	0.95[AFR][1000 genomes]
rs73395537	0.95[AFR][1000 genomes]
rs73395538	0.95[AFR][1000 genomes]
rs73395545	0.95[AFR][1000 genomes]
rs73395552	0.95[AFR][1000 genomes]
rs73395590	0.95[AFR][1000 genomes]
rs73397406	0.95[AFR][1000 genomes]
rs73397410	0.95[AFR][1000 genomes]
rs73397449	0.90[AFR][1000 genomes]
rs73397461	0.97[AFR][1000 genomes]
rs73397468	0.97[AFR][1000 genomes]
rs73397473	0.92[AFR][1000 genomes]
rs73408905	0.95[AFR][1000 genomes]
rs73408906	0.95[AFR][1000 genomes]
rs73408921	0.95[AFR][1000 genomes]
rs73408925	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	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
8	nsv1051990	chr15:50745814-51133186	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv1054970	chr15:50761410-51036625	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv1048621	chr15:50775451-51115535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
17	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
18	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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 target site	66 gene(s)	inside rSNPs	diseases
19	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic 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 target site	66 gene(s)	inside rSNPs	diseases
20	nsv431389	chr15:50795835-50979738	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
21	nsv1036081	chr15:50818569-51097229	Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
22	nsv1055112	chr15:50822035-51133186	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
23	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
24	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
25	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
26	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
27	nsv1051400	chr15:50890333-51046283	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50906400-50977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:50919200-50967800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:50923400-50977600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:50923600-50977600	Weak transcription	Brain Substantia Nigra	brain
5	chr15:50929200-50969200	Weak transcription	Small Intestine	intestine
6	chr15:50930000-50968000	Weak transcription	Fetal Kidney	kidney
7	chr15:50935000-50975800	Weak transcription	Pancreas	Pancrea
8	chr15:50938800-50976200	Weak transcription	Gastric	stomach
9	chr15:50939400-50975400	Weak transcription	Brain Angular Gyrus	brain
10	chr15:50942000-50969000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:50943200-50969400	Weak transcription	Psoas Muscle	Psoas
12	chr15:50943400-50973600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr15:50943400-50975200	Weak transcription	Spleen	Spleen
14	chr15:50945400-50969000	Weak transcription	Right Atrium	heart
15	chr15:50946200-50968000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:50946200-50969200	Weak transcription	Stomach Mucosa	stomach
17	chr15:50946200-50977200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:50946400-50969000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:50946800-50977600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:50948800-50970600	Weak transcription	Aorta	Aorta
21	chr15:50948800-50975600	Weak transcription	Thymus	Thymus
22	chr15:50948800-50977200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:50949000-50969400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:50949000-50977800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:50949200-50977000	Weak transcription	Brain Anterior Caudate	brain
26	chr15:50949200-50977200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:50950000-50976200	Weak transcription	Fetal Brain Female	brain
28	chr15:50950000-50976800	Weak transcription	Brain Hippocampus Middle	brain
29	chr15:50950000-50976800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:50950000-50977000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:50950000-50977000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:50950200-50977400	Weak transcription	Fetal Lung	lung
33	chr15:50950800-50977400	Weak transcription	Ovary	ovary
34	chr15:50951000-50976800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:50951200-50969000	Weak transcription	NH-A	brain
36	chr15:50951600-50968800	Weak transcription	NHLF	lung
37	chr15:50953200-50968800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:50954400-50970000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:50954400-50977200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr15:50954600-50975600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:50955000-50968000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:50955000-50975600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:50955000-50975800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:50955600-50976600	Weak transcription	HUVEC	blood vessel
45	chr15:50956200-50969000	Weak transcription	Fetal Muscle Leg	muscle
46	chr15:50956200-50969000	Weak transcription	NHDF-Ad	bronchial
47	chr15:50956200-50969200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr15:50956200-50975000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:50956200-50976800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:50956200-50977000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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