Variant report

Variant	rs13173714
Chromosome Location	chr5:108065114-108065115
allele	C/G
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	STAT3	chr5:108065008-108065275	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr5:108064977-108065259	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr5:108064932-108065383	A549	lung:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
4	CEBPB	chr5:108064702-108065343	IMR90	lung:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
5	MYC	chr5:108063903-108065201	MCF10A-Er-Src	breast:	n/a	chr5:108064303-108064312
6	CEBPB	chr5:108063229-108065583	Hela-S3	cervix:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
7	FOS	chr5:108065023-108065364	MCF10A-Er-Src	breast:	n/a	chr5:108065305-108065312 chr5:108065305-108065313 chr5:108065306-108065317
8	EP300	chr5:108062212-108065250	K562	blood:	n/a	chr5:108064551-108064565 chr5:108065056-108065070 chr5:108063707-108063716
9	ARID3A	chr5:108064639-108065280	K562	blood:	n/a	n/a
10	RCOR1	chr5:108064664-108065347	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr5:108062340-108065386	K562	blood:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
12	CEBPB	chr5:108064929-108065431	ECC-1	luminal epithelium:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
13	MYC	chr5:108065084-108065284	K562	blood:	n/a	n/a
14	CEBPB	chr5:108063162-108065377	A549	lung:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
15	TCF7L2	chr5:108065078-108065441	Hela-S3	cervix:	n/a	n/a
16	EP300	chr5:108065038-108065209	HepG2	liver:	n/a	chr5:108065056-108065070
17	CEBPB	chr5:108064960-108065472	MCF-7	breast:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
18	ZNF384	chr5:108064895-108065312	K562	blood:	n/a	n/a
19	STAT3	chr5:108065016-108065216	MCF10A-Er-Src	breast:	n/a	n/a
20	CEBPB	chr5:108064826-108065483	A549	lung:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
21	CEBPB	chr5:108065021-108065224	HepG2	liver:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
22	CEBPB	chr5:108064960-108065386	HepG2	liver:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
23	CEBPB	chr5:108064969-108065370	K562	blood:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
24	SMC3	chr5:108065097-108065294	HepG2	liver:	n/a	n/a
25	CEBPB	chr5:108064941-108065411	MCF-7	breast:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
26	FOS	chr5:108065090-108065304	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr5:108064813-108065407	MCF10A-Er-Src	breast:	n/a	chr5:108065305-108065312 chr5:108065305-108065313 chr5:108065306-108065317
28	CEBPB	chr5:108064928-108065396	ECC-1	luminal epithelium:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
29	BRCA1	chr5:108064735-108065325	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr5:108064927-108065382	H1-hESC	embryonic stem cell:	n/a	chr5:108065188-108065201 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065190-108065199 chr5:108065138-108065147 chr5:108065188-108065199 chr5:108065136-108065147 chr5:108065188-108065201 chr5:108065138-108065147 chr5:108065138-108065147
31	EP300	chr5:108064624-108065330	Hela-S3	cervix:	n/a	chr5:108065056-108065070

No.	Distal block	Cell Line	Cell type
1	chr5:108060235..108074407-chr5:108078172..108087811,48	K562	blood:
2	chr5:108062598..108065696-chr5:108743430..108747045,3	K562	blood:
3	chr5:108062273..108066431-chr5:108081834..108086243,5	MCF-7	breast:
4	chr5:108062575..108065883-chr5:108081229..108085721,5	MCF-7	breast:
5	chr5:108063588..108065189-chr5:109024997..109026908,2	MCF-7	breast:
6	chr5:108059312..108068052-chr5:108079113..108087366,42	K562	blood:

Variant related genes	Relation type
LINC01023	TF binding region
ENSG00000112893	Chromatin interaction
ENSG00000151422	Chromatin interaction
ENSG00000198961	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10038669	0.92[JPT][hapmap]
rs10062204	0.85[JPT][hapmap]
rs10063167	0.92[JPT][hapmap]
rs10073668	0.92[JPT][hapmap]
rs1022045	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1109617	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11240982	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11739006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12153703	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13180513	0.92[JPT][hapmap]
rs1423457	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1472916	1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17161476	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2081126	0.92[JPT][hapmap]
rs2081129	0.92[JPT][hapmap]
rs2900035	0.92[JPT][hapmap];0.81[MEX][hapmap]
rs34660781	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35398495	0.96[ASN][1000 genomes]
rs4957789	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6594333	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6594334	0.82[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6594336	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6871143	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6871239	0.93[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6873068	0.96[ASN][1000 genomes]
rs6874229	0.92[JPT][hapmap]
rs6880284	0.92[JPT][hapmap]
rs6882107	0.82[ASW][hapmap];0.81[MEX][hapmap]
rs6889967	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6891194	0.92[JPT][hapmap]
rs6892439	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6895027	0.92[JPT][hapmap]
rs7700630	0.86[MEX][hapmap]
rs7712834	0.92[JPT][hapmap]
rs7716320	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7716485	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7716498	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7735235	0.92[JPT][hapmap]
rs9285863	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9326748	0.92[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108063200-108065200	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr5:108063200-108065400	Active TSS	Fetal Brain Male	brain
3	chr5:108063400-108065600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr5:108063600-108065200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr5:108064200-108065200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr5:108064200-108065200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr5:108064200-108065200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:108064200-108065200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:108064200-108065400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:108064400-108065200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:108064400-108065200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:108064400-108065200	Flanking Active TSS	HMEC	breast
13	chr5:108064400-108065600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:108064600-108065200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:108064600-108065200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:108064600-108065200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:108064600-108066200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:108064600-108071600	Weak transcription	Pancreas	Pancrea
19	chr5:108064800-108065200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:108064800-108065200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr5:108064800-108065200	Enhancers	A549	lung
22	chr5:108064800-108065200	Enhancers	HUVEC	blood vessel
23	chr5:108064800-108065400	Active TSS	Brain Angular Gyrus	brain
24	chr5:108064800-108065400	Flanking Active TSS	GM12878-XiMat	blood
25	chr5:108064800-108065800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:108064800-108065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:108064800-108066000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:108064800-108066000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:108064800-108066200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:108064800-108066200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:108065000-108065200	Enhancers	Primary T cells from cord blood	blood
32	chr5:108065000-108065200	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr5:108065000-108065200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:108065000-108065200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr5:108065000-108065200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr5:108065000-108065200	Enhancers	Brain Substantia Nigra	brain
37	chr5:108065000-108065200	Enhancers	Fetal Brain Female	brain
38	chr5:108065000-108065400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:108065000-108065400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:108065000-108065400	Active TSS	Fetal Lung	lung
41	chr5:108065000-108065400	Flanking Active TSS	K562	blood
42	chr5:108065000-108066000	Enhancers	Hela-S3	cervix
43	chr5:108065000-108066200	Weak transcription	NHDF-Ad	bronchial
44	chr5:108065000-108066200	Enhancers	NHEK	skin
45	chr5:108065000-108066400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:108065000-108066600	Enhancers	Primary B cells from peripheral blood	blood
47	chr5:108065000-108068400	Enhancers	Primary monocytes fromperipheralblood	blood

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