Variant report

Variant	rs57516465
Chromosome Location	chr15:40586972-40586973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40586058-40587295	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40578220..40580557-chr15:40586517..40588363,3	K562	blood:
2	chr15:40578220..40580557-chr15:40586517..40588363,2	K562	blood:
3	chr15:40586469..40589558-chr15:40593473..40595451,3	K562	blood:

Variant related genes	Relation type
PLCB2	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1869903	1.00[EUR][1000 genomes]
rs2412506	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28395841	1.00[EUR][1000 genomes]
rs3765064	1.00[EUR][1000 genomes]
rs57253140	1.00[EUR][1000 genomes]
rs59341305	1.00[EUR][1000 genomes]
rs60309188	1.00[EUR][1000 genomes]
rs8025304	0.94[ASN][1000 genomes]
rs936209	0.98[ASN][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	nsv904095	chr15:40525430-40591570	Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv471240	chr15:40528155-40595627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv904096	chr15:40550149-40604777	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv904097	chr15:40555065-40595627	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv517541	chr15:40557268-40595627	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv457118	chr15:40565705-40606484	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv569227	chr15:40565705-40606484	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40572000-40592800	Weak transcription	Dnd41	blood
2	chr15:40575800-40592600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr15:40576000-40590800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:40576200-40592600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:40577400-40593200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:40577800-40593000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:40578000-40596000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:40578400-40587600	Enhancers	Fetal Heart	heart
9	chr15:40578600-40587200	Strong transcription	Spleen	Spleen
10	chr15:40578800-40592600	Strong transcription	Primary T cells from cord blood	blood
11	chr15:40579000-40591600	Strong transcription	Thymus	Thymus
12	chr15:40579000-40592800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:40579000-40592800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr15:40579000-40595200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:40579000-40595600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr15:40579200-40597000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr15:40579800-40592800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr15:40581400-40592000	Strong transcription	Primary B cells from cord blood	blood
19	chr15:40581600-40592200	Strong transcription	Primary hematopoietic stem cells	blood
20	chr15:40582000-40592600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr15:40583200-40589200	Enhancers	Left Ventricle	heart
22	chr15:40583600-40593000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:40583800-40590800	Enhancers	Right Ventricle	heart
24	chr15:40583800-40596400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:40584000-40587800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:40584000-40588200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr15:40584000-40588800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:40584000-40594400	Weak transcription	Colonic Mucosa	Colon
29	chr15:40584000-40596400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:40584000-40596800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:40584200-40599200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr15:40584200-40614800	Weak transcription	Gastric	stomach
33	chr15:40584400-40587800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr15:40584400-40599000	Weak transcription	Liver	Liver
35	chr15:40584600-40588800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:40584600-40590400	Weak transcription	Lung	lung
37	chr15:40584800-40592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:40585200-40587200	Enhancers	Fetal Brain Male	brain
39	chr15:40585400-40587000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:40585400-40587000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:40585600-40587000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:40585800-40587000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr15:40585800-40587000	Enhancers	Fetal Brain Female	brain
44	chr15:40586000-40587000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:40586000-40592800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:40586200-40587000	Weak transcription	Right Atrium	heart
47	chr15:40586400-40587800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:40586400-40589800	Weak transcription	Fetal Thymus	thymus
49	chr15:40586600-40587800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:40586600-40587800	Strong transcription	Placenta	Placenta

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