Variant report

Variant	rs1399079
Chromosome Location	chr15:33447150-33447151
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	PBX3	chr15:33446503-33447720	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr15:33446980-33447545	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr15:33446572-33447407	U87	brain:	n/a	n/a
4	YY1	chr15:33446877-33447343	SK-N-SH_RA	brain:	n/a	n/a
5	JUND	chr15:33446569-33447637	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr15:33444641-33447641	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr15:33446572-33447401	U87	brain:	n/a	n/a
8	YY1	chr15:33446566-33447472	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr15:33446683-33447446	U87	brain:	n/a	n/a
10	SIN3AK20	chr15:33447036-33447433	SK-N-SH	brain:	n/a	n/a
11	STAT3	chr15:33446913-33447266	MCF10A-Er-Src	breast:	n/a	n/a
12	PBX3	chr15:33446531-33447611	SK-N-SH	brain:	n/a	n/a
13	EP300	chr15:33446597-33447692	SK-N-SH	brain:	n/a	n/a
14	FOS	chr15:33447109-33447250	MCF10A-Er-Src	breast:	n/a	n/a
15	FOXM1	chr15:33446906-33447678	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr15:33446555-33447839	SK-N-SH	brain:	n/a	chr15:33447599-33447606 chr15:33447596-33447606
17	FOSL2	chr15:33446764-33447674	SK-N-SH	brain:	n/a	n/a
18	TCF12	chr15:33446652-33447720	SK-N-SH	brain:	n/a	n/a
19	USF1	chr15:33447070-33447335	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr15:33446848-33447563	SK-N-SH_RA	brain:	n/a	n/a
21	USF1	chr15:33446962-33447455	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr15:33446701-33447446	U87	brain:	n/a	n/a
23	EP300	chr15:33446705-33447772	SK-N-SH	brain:	n/a	n/a
24	EP300	chr15:33446790-33447557	SK-N-SH_RA	brain:	n/a	n/a
25	YY1	chr15:33446955-33447399	SK-N-SH_RA	brain:	n/a	n/a
26	NFIC	chr15:33446721-33447659	SK-N-SH	brain:	n/a	n/a
27	TEAD4	chr15:33446663-33447708	SK-N-SH	brain:	n/a	n/a
28	MEF2A	chr15:33446748-33447545	SK-N-SH	brain:	n/a	n/a
29	FOS	chr15:33447040-33447235	MCF10A-Er-Src	breast:	n/a	n/a
30	MAX	chr15:33446762-33447500	SK-N-SH	brain:	n/a	n/a
31	FOSL2	chr15:33446849-33447496	SK-N-SH	brain:	n/a	n/a
32	RXRA	chr15:33446889-33447687	SK-N-SH	brain:	n/a	n/a
33	JUND	chr15:33446753-33447704	SK-N-SH	brain:	n/a	n/a
34	CEBPB	chr15:33446944-33447232	IMR90	lung:	n/a	n/a
35	REST	chr15:33446756-33447485	SK-N-SH	brain:	n/a	n/a
36	TCF12	chr15:33446400-33447781	SK-N-SH	brain:	n/a	n/a
37	MAX	chr15:33446778-33447576	SK-N-SH	brain:	n/a	n/a
38	TAF1	chr15:33446755-33447253	SK-N-SH	brain:	n/a	n/a
39	NFIC	chr15:33446806-33447584	SK-N-SH	brain:	n/a	n/a
40	TEAD4	chr15:33446853-33447681	SK-N-SH	brain:	n/a	n/a
41	FOS	chr15:33447002-33447334	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr15:33446976-33447299	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr15:33446101-33447367	SK-N-SH	brain:	n/a	n/a
44	TAF1	chr15:33446645-33447401	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr15:33447128-33447511	HL-60	blood:	n/a	n/a
46	ZBTB33	chr15:33446926-33447562	SK-N-SH	brain:	n/a	n/a
47	SIN3AK20	chr15:33446643-33447469	SK-N-SH	brain:	n/a	n/a
48	SPI1	chr15:33446778-33447442	HL-60	blood:	n/a	chr15:33447338-33447345
49	STAT3	chr15:33447034-33447301	MCF10A-Er-Src	breast:	n/a	n/a
50	USF1	chr15:33447073-33447389	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
FMN1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11072264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17816976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4332721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71462850	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv903983	chr15:33388030-33550256	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33438600-33449800	Weak transcription	NHEK	skin
2	chr15:33439000-33447200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:33441200-33451800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:33442200-33447600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:33442200-33447600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr15:33442600-33448000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:33442800-33447400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:33443800-33450200	Weak transcription	Fetal Intestine Large	intestine
9	chr15:33444600-33447800	Enhancers	HMEC	breast
10	chr15:33445000-33447200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:33445200-33447400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:33445600-33447400	Weak transcription	Brain Angular Gyrus	brain
13	chr15:33445600-33453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:33446000-33449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:33446200-33447400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:33446200-33448200	Enhancers	Brain Hippocampus Middle	brain
17	chr15:33446400-33447400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:33446400-33447600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:33446400-33448800	Enhancers	Placenta	Placenta
20	chr15:33446600-33447600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:33446600-33447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:33446600-33447800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:33446600-33447800	Enhancers	NHDF-Ad	bronchial
24	chr15:33446800-33447400	Enhancers	Brain Cingulate Gyrus	brain
25	chr15:33446800-33447400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr15:33446800-33447600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:33446800-33447600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:33446800-33447600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:33446800-33447600	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr15:33446800-33447600	Enhancers	NH-A	brain
31	chr15:33446800-33449800	Weak transcription	Lung	lung
32	chr15:33446800-33450200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr15:33447000-33447200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:33447000-33447200	Enhancers	Fetal Thymus	thymus
35	chr15:33447000-33447400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:33447000-33447400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr15:33447000-33447400	Enhancers	Fetal Kidney	kidney
38	chr15:33447000-33447400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr15:33447000-33447400	Active TSS	HSMM	muscle
40	chr15:33447000-33447400	Enhancers	Osteobl	bone
41	chr15:33447000-33448200	Enhancers	HSMMtube	muscle
42	chr15:33447000-33454600	Enhancers	Primary monocytes fromperipheralblood	blood

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