Variant report

Variant	rs7732832
Chromosome Location	chr5:90609868-90609869
allele	G/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	POLR2A	chr5:90609578-90610449	Hela-S3	cervix:	n/a	n/a
2	JUND	chr5:90609504-90610626	SK-N-SH	brain:	n/a	chr5:90610264-90610272 chr5:90610264-90610271 chr5:90610263-90610273 chr5:90610262-90610274 chr5:90610262-90610273 chr5:90610264-90610272
3	NFIC	chr5:90609628-90610617	ECC-1	luminal epithelium:	n/a	n/a
4	GATA3	chr5:90609669-90610622	SK-N-SH	brain:	n/a	n/a
5	TCF7L2	chr5:90609654-90610484	PANC-1	pancreas:	n/a	chr5:90609654-90609663 chr5:90609655-90609662 chr5:90609655-90609665 chr5:90610263-90610272
6	TCF12	chr5:90609505-90610526	ECC-1	luminal epithelium:	n/a	n/a
7	TBP	chr5:90609796-90610520	Hela-S3	cervix:	n/a	n/a
8	TEAD4	chr5:90609570-90610585	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr5:90609538-90610668	SK-N-SH	brain:	n/a	n/a
10	EP300	chr5:90609563-90610668	ECC-1	luminal epithelium:	n/a	chr5:90610264-90610273 chr5:90610358-90610365
11	CEBPB	chr5:90609808-90610664	HCT-116	colon:	n/a	chr5:90610378-90610386
12	EP300	chr5:90609600-90610724	A549	lung:	n/a	chr5:90610264-90610273 chr5:90610358-90610365
13	JUND	chr5:90609801-90610540	Hela-S3	cervix:	n/a	chr5:90610264-90610272 chr5:90610264-90610271 chr5:90610263-90610273 chr5:90610262-90610274 chr5:90610262-90610273 chr5:90610264-90610272
14	SP1	chr5:90609626-90610753	HCT-116	colon:	n/a	n/a
15	EP300	chr5:90609787-90610529	Hela-S3	cervix:	n/a	chr5:90610264-90610273 chr5:90610358-90610365
16	FOS	chr5:90609842-90610528	MCF10A-Er-Src	breast:	n/a	chr5:90610264-90610272 chr5:90610264-90610271 chr5:90610263-90610273 chr5:90610262-90610274 chr5:90610264-90610272
17	REST	chr5:90609562-90610575	A549	lung:	n/a	n/a
18	EP300	chr5:90609498-90610744	SK-N-SH	brain:	n/a	chr5:90610264-90610273 chr5:90610358-90610365
19	POLR2A	chr5:90595038-90610657	U87	brain:	n/a	n/a
20	JUND	chr5:90609836-90610514	SK-N-SH	brain:	n/a	chr5:90610264-90610272 chr5:90610264-90610271 chr5:90610263-90610273 chr5:90610262-90610274 chr5:90610262-90610273 chr5:90610264-90610272
21	JUN	chr5:90609713-90610636	K562	blood:	n/a	chr5:90610264-90610272 chr5:90610264-90610271 chr5:90610263-90610273 chr5:90610262-90610274 chr5:90610264-90610272
22	TCF7L2	chr5:90609780-90610504	Hela-S3	cervix:	n/a	chr5:90610263-90610272
23	CBX3	chr5:90609675-90610592	HCT-116	colon:	n/a	n/a
24	FOS	chr5:90609818-90610546	HUVEC	blood vessel:	n/a	chr5:90610264-90610272 chr5:90610264-90610271 chr5:90610263-90610273 chr5:90610262-90610274 chr5:90610264-90610272
25	POLR2A	chr5:90609617-90610520	Hela-S3	cervix:	n/a	n/a
26	FOXM1	chr5:90609537-90610565	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr5:90609560-90610598	A549	lung:	n/a	chr5:90610264-90610273
28	NFIC	chr5:90609681-90610616	SK-N-SH	brain:	n/a	n/a
29	SP1	chr5:90609656-90610755	HCT-116	colon:	n/a	n/a
30	MEF2A	chr5:90609822-90610477	SK-N-SH	brain:	n/a	chr5:90610264-90610272
31	RCOR1	chr5:90609864-90610563	K562	blood:	n/a	n/a
32	FOXM1	chr5:90609559-90610652	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr5:90609586-90610500	Hela-S3	cervix:	n/a	n/a
34	TCF7L2	chr5:90609617-90610585	Hela-S3	cervix:	n/a	chr5:90609654-90609663 chr5:90609655-90609662 chr5:90609655-90609665 chr5:90610263-90610272
35	MAX	chr5:90609687-90610489	A549	lung:	n/a	chr5:90610264-90610273
36	ESR1	chr5:90609771-90610476	ECC-1	luminal epithelium:	n/a	n/a
37	SIN3AK20	chr5:90609782-90610526	A549	lung:	n/a	n/a
38	TCF7L2	chr5:90609680-90610542	HCT-116	colon:	n/a	chr5:90610263-90610272
39	SIN3AK20	chr5:90609728-90610569	HCT-116	colon:	n/a	n/a
40	JUND	chr5:90609766-90610675	SK-N-SH	brain:	n/a	chr5:90610264-90610272 chr5:90610264-90610271 chr5:90610263-90610273 chr5:90610262-90610274 chr5:90610262-90610273 chr5:90610264-90610272
41	POLR2A	chr5:90596852-90610582	U87	brain:	n/a	n/a
42	MAFK	chr5:90609823-90610632	K562	blood:	n/a	chr5:90610428-90610439 chr5:90610428-90610444 chr5:90610428-90610439 chr5:90610429-90610440 chr5:90610427-90610441 chr5:90610429-90610440 chr5:90610265-90610274 chr5:90610264-90610274
43	MAX	chr5:90609796-90610526	ECC-1	luminal epithelium:	n/a	chr5:90610264-90610273
44	TCF7L2	chr5:90609865-90610476	HepG2	liver:	n/a	chr5:90610263-90610272
45	ATF3	chr5:90609855-90610523	A549	lung:	n/a	n/a
46	ZKSCAN1	chr5:90609714-90610481	Hela-S3	cervix:	n/a	n/a
47	EP300	chr5:90609778-90610545	SK-N-SH	brain:	n/a	chr5:90610264-90610273 chr5:90610358-90610365
48	SRF	chr5:90609769-90610466	ECC-1	luminal epithelium:	n/a	n/a
49	JUND	chr5:90609851-90610544	K562	blood:	n/a	chr5:90610264-90610272 chr5:90610264-90610271 chr5:90610263-90610273 chr5:90610262-90610274 chr5:90610262-90610273 chr5:90610264-90610272
50	CEBPB	chr5:90609641-90610763	HCT-116	colon:	n/a	chr5:90610378-90610386

No.	Distal block	Cell Line	Cell type
1	chr5:90609791..90613058-chr5:90669226..90672505,3	MCF-7	breast:
2	chr3:156534984..156535558-chr5:90609305..90610027,2	Hela-S3	cervix:
3	chr5:90607284..90611861-chr5:90674569..90683045,11	K562	blood:
4	chr5:90575227..90576970-chr5:90607873..90610168,2	K562	blood:
5	chr5:90608430..90610124-chr5:90673476..90676069,2	K562	blood:
6	chr5:90607483..90611926-chr5:90672625..90681906,20	MCF-7	breast:
7	chr5:90608356..90610045-chr5:90671011..90673343,2	K562	blood:
8	chr5:90605667..90612137-chr5:90676262..90681561,13	K562	blood:
9	chr5:90574749..90579554-chr5:90606387..90610471,6	MCF-7	breast:
10	chr5:90607535..90610829-chr5:90673824..90679078,6	MCF-7	breast:
11	chr5:90576418..90578111-chr5:90608143..90610210,2	K562	blood:

Variant related genes	Relation type
LUCAT1	TF binding region
ENSG00000113369	Chromatin interaction
ENSG00000234292	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10057046	0.99[ASN][1000 genomes]
rs10462494	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10462495	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13356765	0.92[ASN][1000 genomes]
rs2048453	0.92[ASN][1000 genomes]
rs2048454	0.85[CHB][hapmap];0.85[TSI][hapmap]
rs2137007	0.96[ASN][1000 genomes]
rs4916706	0.85[CHB][hapmap]
rs4916707	0.85[CHB][hapmap]
rs4916853	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.92[ASN][1000 genomes]
rs4916854	0.83[ASN][1000 genomes]
rs4916857	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.98[ASN][1000 genomes]
rs56066934	0.81[EUR][1000 genomes]
rs59578984	0.81[EUR][1000 genomes]
rs6865066	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.98[ASN][1000 genomes]
rs6865269	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6877420	0.96[ASN][1000 genomes]
rs6880312	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7704529	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.98[ASN][1000 genomes]
rs7705128	0.85[CHB][hapmap]
rs7721772	0.98[ASN][1000 genomes]
rs7727557	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9293562	0.91[ASN][1000 genomes]
rs9293564	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90605400-90611200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr5:90605600-90610200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:90605800-90610400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:90605800-90610400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr5:90605800-90611200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:90606000-90611200	Enhancers	Fetal Thymus	thymus
7	chr5:90606400-90610400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:90606400-90610800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:90606600-90610400	Enhancers	Primary T cells from cord blood	blood
10	chr5:90606600-90610600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:90606600-90612200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:90606800-90610200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr5:90606800-90610600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:90606800-90611400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:90607000-90610200	Enhancers	Thymus	Thymus
16	chr5:90607000-90610400	Enhancers	Fetal Muscle Leg	muscle
17	chr5:90607000-90610600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr5:90607200-90610200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:90607200-90610400	Enhancers	Brain Angular Gyrus	brain
20	chr5:90607200-90610600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr5:90607400-90610600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr5:90607400-90610600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr5:90607600-90610600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:90607600-90611400	Enhancers	K562	blood
25	chr5:90607800-90610600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr5:90607800-90610600	Enhancers	Rectal Smooth Muscle	rectum
27	chr5:90607800-90610600	Flanking Active TSS	Hela-S3	cervix
28	chr5:90607800-90611000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:90608000-90610600	Enhancers	Fetal Heart	heart
30	chr5:90608000-90610800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:90608200-90610000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr5:90608200-90610000	Weak transcription	Placenta	Placenta
33	chr5:90608200-90610200	Active TSS	Psoas Muscle	Psoas
34	chr5:90608200-90610400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:90608200-90610600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:90608200-90610600	Enhancers	HSMM	muscle
37	chr5:90608400-90611200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:90608600-90610000	Weak transcription	Fetal Stomach	stomach
39	chr5:90608600-90610600	Enhancers	NHEK	skin
40	chr5:90608800-90610400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:90609000-90610200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr5:90609000-90610200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr5:90609000-90610400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:90609000-90611200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:90609000-90611200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:90609200-90610400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr5:90609200-90610400	Enhancers	Colon Smooth Muscle	Colon
48	chr5:90609200-90612000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:90609400-90610200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr5:90609400-90610400	Weak transcription	Lung	lung

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