Variant report

Variant	rs571777565
Chromosome Location	chr15:40583552-40583553
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	ZBTB7A	chr15:40583166-40583695	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr15:40583455-40583583	A549	lung:	n/a	n/a
3	POLR2A	chr15:40583377-40583717	MCF10A-Er-Src	breast:	n/a	n/a
4	CHD2	chr15:40583375-40583757	K562	blood:	n/a	n/a
5	POLR2A	chr15:40583186-40583792	K562	blood:	n/a	n/a
6	BHLHE40	chr15:40583254-40583763	K562	blood:	n/a	n/a
7	CCNT2	chr15:40583326-40583732	K562	blood:	n/a	n/a
8	POLR2A	chr15:40583019-40583840	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:40583458-40583622	A549	lung:	n/a	n/a
10	UBTF	chr15:40583303-40583795	K562	blood:	n/a	n/a
11	POLR2A	chr15:40583167-40583841	H1-neurons	neurons:	n/a	n/a
12	E2F6	chr15:40583131-40583809	K562	blood:	n/a	n/a
13	E2F6	chr15:40583146-40583736	K562	blood:	n/a	n/a
14	MAZ	chr15:40583407-40583735	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:40583116-40583906	H1-neurons	neurons:	n/a	n/a
16	HEY1	chr15:40583438-40583665	K562	blood:	n/a	n/a
17	MAX	chr15:40583102-40583962	HCT-116	colon:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
18	SMC3	chr15:40583357-40583762	Hela-S3	cervix:	n/a	n/a
19	E2F6	chr15:40583184-40583753	A549	lung:	n/a	n/a
20	CHD2	chr15:40583343-40583777	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr15:40583156-40583839	SK-N-SH	brain:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
22	GABPA	chr15:40583152-40583802	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:40583454-40583776	HCT-116	colon:	n/a	n/a
24	MXI1	chr15:40583340-40583708	Hela-S3	cervix:	n/a	chr15:40583392-40583401 chr15:40583392-40583401 chr15:40583394-40583403
25	MYC	chr15:40583389-40583636	K562	blood:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
26	MAZ	chr15:40583528-40583619	K562	blood:	n/a	n/a
27	CHD2	chr15:40583520-40583692	HepG2	liver:	n/a	n/a
28	POLR2A	chr15:40583372-40583738	Hela-S3	cervix:	n/a	n/a
29	YY1	chr15:40583391-40583760	K562	blood:	n/a	n/a
30	HMGN3	chr15:40583342-40583764	K562	blood:	n/a	n/a
31	E2F6	chr15:40582744-40583907	H1-hESC	embryonic stem cell:	n/a	chr15:40583096-40583105
32	POLR2A	chr15:40583372-40583801	HCT-116	colon:	n/a	n/a
33	GABPA	chr15:40583254-40583745	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr15:40583150-40583884	ECC-1	luminal epithelium:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
35	POLR2A	chr15:40583406-40583662	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr15:40583403-40583745	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr15:40583193-40583766	K562	blood:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
38	CBX3	chr15:40583507-40583799	K562	blood:	n/a	n/a
39	MYC	chr15:40583171-40583729	K562	blood:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
40	E2F6	chr15:40582665-40584123	H1-hESC	embryonic stem cell:	n/a	chr15:40583096-40583105
41	POLR2A	chr15:40583069-40583964	SK-N-MC	brain:	n/a	n/a
42	MAX	chr15:40583122-40583802	K562	blood:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
43	USF2	chr15:40583212-40583613	H1-hESC	embryonic stem cell:	n/a	n/a
44	TBP	chr15:40583455-40583649	K562	blood:	n/a	n/a
45	E2F6	chr15:40583237-40583712	K562	blood:	n/a	n/a
46	MYC	chr15:40583397-40583607	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:40583483-40583707	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr15:40582722-40583855	H1-hESC	embryonic stem cell:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
49	BACH1	chr15:40583322-40583631	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr15:40583465-40583593	Hela-S3	cervix:	n/a	n/a

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	chr15:40582955..40585204-chr15:40588565..40592686,6	K562	blood:
4	chr15:40583247..40584804-chr15:40630582..40632469,2	MCF-7	breast:
5	chr15:40581743..40583725-chr15:40632082..40634284,2	MCF-7	breast:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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:116 , 50 per page) page: 1 2 3

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	chr15:40582400-40583600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:40582600-40583600	Enhancers	Brain Angular Gyrus	brain
29	chr15:40582800-40583600	Enhancers	Lung	lung
30	chr15:40582800-40583600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr15:40582800-40583800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
32	chr15:40582800-40584000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr15:40582800-40584000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr15:40582800-40584200	Bivalent Enhancer	Placenta	Placenta
35	chr15:40583000-40583600	Bivalent/Poised TSS	Fetal Stomach	stomach
36	chr15:40583000-40583800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:40583000-40583800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr15:40583000-40583800	Active TSS	Brain Hippocampus Middle	brain
39	chr15:40583000-40583800	Weak transcription	Fetal Thymus	thymus
40	chr15:40583000-40584000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr15:40583000-40584200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr15:40583000-40584600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:40583000-40584800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr15:40583200-40583600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr15:40583200-40583600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:40583200-40583600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:40583200-40583600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:40583200-40583600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:40583200-40583600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:40583200-40583600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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