Variant report

Variant	rs4493648
Chromosome Location	chr5:75471291-75471292
allele	A/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	RAD21	chr5:75470839-75471317	GM12878	blood:	n/a	chr5:75471065-75471084 chr5:75471069-75471083
2	MAZ	chr5:75470941-75472282	GM12878	blood:	n/a	n/a
3	RAD21	chr5:75470808-75471380	HCT-116	colon:	n/a	chr5:75471065-75471084 chr5:75471069-75471083
4	RAD21	chr5:75470785-75471356	ECC-1	luminal epithelium:	n/a	chr5:75471065-75471084 chr5:75471069-75471083
5	NFIC	chr5:75470896-75472411	GM12878	blood:	n/a	n/a
6	RAD21	chr5:75470884-75471330	A549	lung:	n/a	chr5:75471065-75471084 chr5:75471069-75471083
7	RAD21	chr5:75470768-75471366	MCF-7	breast:	n/a	chr5:75471065-75471084 chr5:75471069-75471083
8	BCLAF1	chr5:75470838-75471335	GM12878	blood:	n/a	n/a
9	CTCF	chr5:75470763-75471313	MCF-7	breast:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
10	RAD21	chr5:75470790-75471297	HepG2	liver:	n/a	chr5:75471065-75471084 chr5:75471069-75471083
11	GATA3	chr5:75471109-75472011	SH-SY5Y	brain:	n/a	chr5:75471846-75471863 chr5:75471841-75471857 chr5:75471845-75471854 chr5:75471844-75471854
12	SMC3	chr5:75470802-75471333	GM12878	blood:	n/a	chr5:75471069-75471083
13	CTCF	chr5:75471220-75471370	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr5:75470750-75472090	SK-N-SH	brain:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
15	RAD21	chr5:75470806-75471339	ECC-1	luminal epithelium:	n/a	chr5:75471065-75471084 chr5:75471069-75471083
16	MXI1	chr5:75470592-75472288	SK-N-SH	brain:	n/a	n/a
17	CUX1	chr5:75471063-75471406	GM12878	blood:	n/a	n/a
18	RAD21	chr5:75470807-75471380	HCT-116	colon:	n/a	chr5:75471065-75471084 chr5:75471069-75471083
19	CTCF	chr5:75470868-75471303	K562	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
20	ZNF143	chr5:75470883-75471292	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr5:75471055-75472312	GM12878	blood:	n/a	n/a
22	CTCF	chr5:75470510-75471444	A549	lung:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
23	SMC3	chr5:75470650-75472048	SK-N-SH	brain:	n/a	chr5:75471069-75471083
24	RAD21	chr5:75470813-75471350	A549	lung:	n/a	chr5:75471065-75471084 chr5:75471069-75471083
25	CTCF	chr5:75470736-75471320	HCT-116	colon:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
26	RAD21	chr5:75470386-75472489	SK-N-SH	brain:	n/a	chr5:75471065-75471084 chr5:75471069-75471083 chr5:75471450-75471462
27	GATA2	chr5:75470570-75472089	SH-SY5Y	brain:	n/a	chr5:75471846-75471863 chr5:75471841-75471857 chr5:75470627-75470643 chr5:75471845-75471854 chr5:75471844-75471854
28	CTCF	chr5:75470800-75471291	MCF-7	breast:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
29	RAD21	chr5:75470832-75471381	MCF-7	breast:	n/a	chr5:75471065-75471084 chr5:75471069-75471083

No.	Distal block	Cell Line	Cell type
1	chr5:75370002..75370997-chr5:75470399..75471572,8	MCF-7	breast:
2	chr5:75370258..75370917-chr5:75470691..75471438,2	MCF-7	breast:
3	chr5:75470625..75471456-chr5:75551799..75552684,5	MCF-7	breast:
4	chr5:75182130..75182669-chr5:75470688..75471450,3	MCF-7	breast:
5	chr5:75030911..75031730-chr5:75470555..75471416,3	MCF-7	breast:
6	chr5:75031130..75031721-chr5:75470748..75471418,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254893	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10039662	0.98[ASN][1000 genomes]
rs10040232	1.00[ASN][1000 genomes]
rs10043982	0.90[EUR][1000 genomes]
rs10064352	1.00[ASN][1000 genomes]
rs10514062	0.98[ASN][1000 genomes]
rs2055439	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34476924	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4704286	1.00[ASN][1000 genomes]
rs6414966	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6414969	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6453208	0.93[ASN][1000 genomes]
rs6868505	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7445798	0.98[ASN][1000 genomes]
rs7448148	0.98[ASN][1000 genomes]
rs7733832	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv2757119	chr5:75426863-75474780	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2759351	chr5:75426863-75474780	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv34958	chr5:75429015-75474921	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75470600-75472200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr5:75470600-75472600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:75470600-75472800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:75470600-75476400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:75470800-75471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:75470800-75472600	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:75471000-75472000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:75471000-75472200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:75471000-75472600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:75471000-75472600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr5:75471000-75474200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:75471200-75471400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr5:75471200-75471400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr5:75471200-75471600	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:75471200-75471600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:75471200-75471800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:75471200-75471800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:75471200-75472000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:75471200-75472000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:75471200-75472200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:75471200-75472200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:75471200-75472200	Flanking Active TSS	K562	blood
23	chr5:75471200-75472400	Enhancers	Primary B cells from cord blood	blood
24	chr5:75471200-75472600	Enhancers	Primary T cells from cord blood	blood
25	chr5:75471200-75472600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:75471200-75472600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:75471200-75472600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr5:75471200-75472600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:75471200-75472600	Flanking Active TSS	GM12878-XiMat	blood
30	chr5:75471200-75472600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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