Variant report

Variant	rs5002280
Chromosome Location	chr15:33447414-33447415
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	JUND	chr15:33446569-33447637	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr15:33444641-33447641	SK-N-SH	brain:	n/a	n/a
5	YY1	chr15:33446566-33447472	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr15:33446683-33447446	U87	brain:	n/a	n/a
7	SIN3AK20	chr15:33447036-33447433	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr15:33446531-33447611	SK-N-SH	brain:	n/a	n/a
9	EP300	chr15:33446597-33447692	SK-N-SH	brain:	n/a	n/a
10	FOXM1	chr15:33446906-33447678	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr15:33446555-33447839	SK-N-SH	brain:	n/a	chr15:33447599-33447606 chr15:33447596-33447606
12	FOSL2	chr15:33446764-33447674	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr15:33446652-33447720	SK-N-SH	brain:	n/a	n/a
14	EP300	chr15:33446848-33447563	SK-N-SH_RA	brain:	n/a	n/a
15	USF1	chr15:33446962-33447455	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr15:33447376-33447602	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr15:33446701-33447446	U87	brain:	n/a	n/a
18	EP300	chr15:33446705-33447772	SK-N-SH	brain:	n/a	n/a
19	EP300	chr15:33446790-33447557	SK-N-SH_RA	brain:	n/a	n/a
20	NFIC	chr15:33446721-33447659	SK-N-SH	brain:	n/a	n/a
21	TEAD4	chr15:33446663-33447708	SK-N-SH	brain:	n/a	n/a
22	MEF2A	chr15:33446748-33447545	SK-N-SH	brain:	n/a	n/a
23	MAX	chr15:33446762-33447500	SK-N-SH	brain:	n/a	n/a
24	FOSL2	chr15:33446849-33447496	SK-N-SH	brain:	n/a	n/a
25	RXRA	chr15:33446889-33447687	SK-N-SH	brain:	n/a	n/a
26	JUND	chr15:33446753-33447704	SK-N-SH	brain:	n/a	n/a
27	REST	chr15:33446756-33447485	SK-N-SH	brain:	n/a	n/a
28	TCF12	chr15:33446400-33447781	SK-N-SH	brain:	n/a	n/a
29	MAX	chr15:33446778-33447576	SK-N-SH	brain:	n/a	n/a
30	NFIC	chr15:33446806-33447584	SK-N-SH	brain:	n/a	n/a
31	TEAD4	chr15:33446853-33447681	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr15:33447128-33447511	HL-60	blood:	n/a	n/a
33	ZBTB33	chr15:33446926-33447562	SK-N-SH	brain:	n/a	n/a
34	SIN3AK20	chr15:33446643-33447469	SK-N-SH	brain:	n/a	n/a
35	SPI1	chr15:33446778-33447442	HL-60	blood:	n/a	chr15:33447338-33447345
36	GATA3	chr15:33446672-33447758	SK-N-SH	brain:	n/a	chr15:33447599-33447606 chr15:33447596-33447606

Variant related genes	Relation type
FMN1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2444962	0.82[JPT][hapmap]
rs2444982	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2444983	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28710924	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4350544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4369627	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6494907	0.97[ASN][1000 genomes]
rs6494908	0.99[EUR][1000 genomes];0.83[ASN][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33438600-33449800	Weak transcription	NHEK	skin
2	chr15:33441200-33451800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:33442200-33447600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:33442200-33447600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr15:33442600-33448000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr15:33443800-33450200	Weak transcription	Fetal Intestine Large	intestine
7	chr15:33444600-33447800	Enhancers	HMEC	breast
8	chr15:33445600-33453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:33446000-33449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:33446200-33448200	Enhancers	Brain Hippocampus Middle	brain
11	chr15:33446400-33447600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:33446400-33448800	Enhancers	Placenta	Placenta
13	chr15:33446600-33447600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:33446600-33447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:33446600-33447800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:33446600-33447800	Enhancers	NHDF-Ad	bronchial
17	chr15:33446800-33447600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:33446800-33447600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:33446800-33447600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:33446800-33447600	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr15:33446800-33447600	Enhancers	NH-A	brain
22	chr15:33446800-33449800	Weak transcription	Lung	lung
23	chr15:33446800-33450200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr15:33447000-33448200	Enhancers	HSMMtube	muscle
25	chr15:33447000-33454600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr15:33447200-33447600	Enhancers	NHLF	lung
27	chr15:33447200-33447800	Enhancers	Rectal Smooth Muscle	rectum
28	chr15:33447200-33449800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:33447400-33447600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:33447400-33447600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr15:33447400-33447600	Flanking Active TSS	HSMM	muscle
32	chr15:33447400-33447600	Flanking Active TSS	Osteobl	bone
33	chr15:33447400-33447800	Enhancers	Brain Angular Gyrus	brain
34	chr15:33447400-33447800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr15:33447400-33447800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr15:33447400-33448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:33447400-33449600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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