Variant report

Variant	rs73391381
Chromosome Location	chr15:40583864-40583865
allele	C/T
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	CTCF	chr15:40583860-40584010	HUVEC	blood vessel:	n/a	chr15:40583944-40583957 chr15:40583922-40583932
2	POLR2A	chr15:40583116-40583906	H1-neurons	neurons:	n/a	n/a
3	MAX	chr15:40583102-40583962	HCT-116	colon:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
4	E2F6	chr15:40582744-40583907	H1-hESC	embryonic stem cell:	n/a	chr15:40583096-40583105
5	MAX	chr15:40583150-40583884	ECC-1	luminal epithelium:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
6	POLR2A	chr15:40583841-40583907	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr15:40582665-40584123	H1-hESC	embryonic stem cell:	n/a	chr15:40583096-40583105
8	POLR2A	chr15:40583069-40583964	SK-N-MC	brain:	n/a	n/a
9	MAX	chr15:40583146-40584064	H1-hESC	embryonic stem cell:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
10	CTCF	chr15:40583860-40584010	Caco-2	colon:	n/a	chr15:40583944-40583957 chr15:40583922-40583932
11	MXI1	chr15:40582982-40583891	IMR90	lung:	n/a	chr15:40583392-40583401 chr15:40583392-40583401 chr15:40583394-40583403
12	MAX	chr15:40583105-40583882	ECC-1	luminal epithelium:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
13	CTCF	chr15:40583760-40583910	HEK293	kidney:	n/a	n/a
14	MAX	chr15:40583095-40583873	A549	lung:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
15	CTCF	chr15:40583697-40584154	H1-hESC	embryonic stem cell:	n/a	chr15:40583944-40583957 chr15:40583922-40583932
16	REST	chr15:40583151-40584007	H1-neurons	neurons:	n/a	chr15:40583172-40583185

No.	Distal block	Cell Line	Cell type
1	chr15:40581027..40584497-chr15:40588911..40592089,3	MCF-7	breast:
2	chr15:40582955..40584944-chr15:40588565..40590383,2	K562	blood:
3	chr15:40583616..40585723-chr15:40614548..40617090,2	K562	blood:
4	chr15:40582955..40585204-chr15:40588565..40592686,6	K562	blood:
5	chr15:40583247..40584804-chr15:40630582..40632469,2	MCF-7	breast:

Variant related genes	Relation type
PLCB2	TF binding region
ENSG00000188549	Chromatin interaction
ENSG00000137841	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10851394	1.00[AMR][1000 genomes]
rs1869905	1.00[AMR][1000 genomes]
rs6492941	0.83[AMR][1000 genomes]
rs7164348	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73391376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7495060	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh 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 target site	63 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv904098	chr15:40564576-40586537	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	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
12	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
13	esv3442423	chr15:40582485-40585033	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40572000-40592800	Weak transcription	Dnd41	blood
2	chr15:40575800-40584400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:40575800-40592600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr15:40576000-40590800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:40576200-40592600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:40577400-40593200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:40577800-40593000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:40578000-40596000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:40578200-40585400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:40578400-40587600	Enhancers	Fetal Heart	heart
11	chr15:40578600-40587200	Strong transcription	Spleen	Spleen
12	chr15:40578800-40585600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:40578800-40592600	Strong transcription	Primary T cells from cord blood	blood
14	chr15:40579000-40585400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:40579000-40591600	Strong transcription	Thymus	Thymus
16	chr15:40579000-40592800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr15:40579000-40592800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr15:40579000-40595200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:40579000-40595600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr15:40579200-40597000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:40579400-40585400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:40579800-40592800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr15:40581400-40592000	Strong transcription	Primary B cells from cord blood	blood
24	chr15:40581600-40592200	Strong transcription	Primary hematopoietic stem cells	blood
25	chr15:40581800-40584800	Enhancers	Fetal Brain Male	brain
26	chr15:40582000-40592600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr15:40582800-40584000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr15:40582800-40584000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr15:40582800-40584200	Bivalent Enhancer	Placenta	Placenta
30	chr15:40583000-40584000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr15:40583000-40584200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr15:40583000-40584600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:40583000-40584800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr15:40583200-40584000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr15:40583200-40584000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:40583200-40584000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:40583200-40584000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:40583200-40584000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:40583200-40584000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:40583200-40584000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:40583200-40584000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:40583200-40584000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:40583200-40584000	Enhancers	Liver	Liver
44	chr15:40583200-40584000	Active TSS	Rectal Smooth Muscle	rectum
45	chr15:40583200-40584000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr15:40583200-40584000	Bivalent/Poised TSS	NHEK	skin
47	chr15:40583200-40584200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr15:40583200-40584200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr15:40583200-40584200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:40583200-40584400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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