Variant report

Variant	rs56327050
Chromosome Location	chr15:45722639-45722640
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	STAT5A	chr15:45722421-45722822	GM12878	blood:	n/a	n/a
2	ZNF143	chr15:45722410-45722849	GM12878	blood:	n/a	chr15:45722610-45722620 chr15:45722836-45722846
3	GTF2F1	chr15:45722525-45722725	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZMIZ1	chr15:45722546-45722687	K562	blood:	n/a	n/a
5	CTCF	chr15:45722540-45722690	K562	blood:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
6	RCOR1	chr15:45722400-45722847	HepG2	liver:	n/a	n/a
7	USF1	chr15:45722535-45722733	HepG2	liver:	n/a	chr15:45722653-45722669
8	CTCF	chr15:45722580-45722730	NHDF-neo	bronchial:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
9	MYC	chr15:45722584-45722784	MCF10A-Er-Src	breast:	n/a	chr15:45722597-45722607 chr15:45722718-45722727
10	RAD21	chr15:45722425-45722986	H1-hESC	embryonic stem cell:	n/a	chr15:45722600-45722610 chr15:45722655-45722665 chr15:45722598-45722611 chr15:45722650-45722669 chr15:45722595-45722614 chr15:45722653-45722666
11	PAX5	chr15:45722500-45722795	GM12892	blood:	n/a	n/a
12	YY1	chr15:45722429-45722809	GM12878	blood:	n/a	chr15:45722597-45722608 chr15:45722597-45722611 chr15:45722733-45722747
13	CTCF	chr15:45722540-45722690	AG04449	skin:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
14	RAD21	chr15:45722437-45722817	A549	lung:	n/a	chr15:45722600-45722610 chr15:45722655-45722665 chr15:45722598-45722611 chr15:45722650-45722669 chr15:45722595-45722614 chr15:45722653-45722666
15	CREB1	chr15:45722359-45722911	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr15:45722560-45722710	HRPEpiC	eye:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
17	CREB1	chr15:45722413-45722856	A549	lung:	n/a	n/a
18	MAX	chr15:45722539-45722762	HepG2	liver:	n/a	chr15:45722597-45722607 chr15:45722718-45722727
19	CTCF	chr15:45722540-45722690	GM12872	blood:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
20	CUX1	chr15:45722463-45722655	GM12878	blood:	n/a	n/a
21	CTCF	chr15:45722560-45722710	HEK293	kidney:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
22	CTCF	chr15:45722540-45722690	GM12871	blood:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
23	ZBTB7A	chr15:45722468-45722667	HepG2	liver:	n/a	chr15:45722657-45722666 chr15:45722602-45722611
24	CTCF	chr15:45722540-45722690	GM12875	blood:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
25	CTCF	chr15:45722560-45722710	HVMF	connective:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
26	MAZ	chr15:45722433-45722777	GM12878	blood:	n/a	chr15:45722597-45722607 chr15:45722718-45722727
27	USF2	chr15:45722518-45722882	H1-hESC	embryonic stem cell:	n/a	chr15:45722653-45722669
28	CTCF	chr15:45722228-45722943	Fibrobl	skin:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722930-45722939 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
29	CTCF	chr15:45722520-45722670	GM06990	blood:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
30	POLR2A	chr15:45722406-45723074	PANC-1	pancreas:	n/a	n/a
31	CTCF	chr15:45722255-45722815	GM19239	blood:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
32	SMC3	chr15:45722412-45722807	HepG2	liver:	n/a	chr15:45722655-45722665 chr15:45722651-45722665 chr15:45722596-45722610 chr15:45722600-45722610
33	RCOR1	chr15:45722475-45722796	GM12878	blood:	n/a	n/a
34	CTCF	chr15:45722520-45722670	HL-60	blood:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
35	CTCF	chr15:45722540-45722690	BJ	skin:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
36	ATF3	chr15:45722457-45722760	K562	blood:	n/a	chr15:45722661-45722681 chr15:45722724-45722744
37	FOSL2	chr15:45722433-45722821	HepG2	liver:	n/a	n/a
38	YY1	chr15:45722312-45722902	HepG2	liver:	n/a	chr15:45722597-45722608 chr15:45722597-45722611 chr15:45722733-45722747
39	CTCF	chr15:45722488-45722777	Gliobla	brain:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
40	HDAC2	chr15:45722467-45722828	HepG2	liver:	n/a	n/a
41	CTCF	chr15:45722432-45722827	GM13977	blood:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
42	HDAC2	chr15:45722499-45722848	HepG2	liver:	n/a	n/a
43	MAZ	chr15:45722237-45723002	IMR90	lung:	n/a	chr15:45722597-45722607 chr15:45722718-45722727
44	SP1	chr15:45722377-45722732	GM12878	blood:	n/a	chr15:45722713-45722722 chr15:45722714-45722723 chr15:45722713-45722722
45	MAX	chr15:45722383-45723118	A549	lung:	n/a	chr15:45722597-45722607 chr15:45722718-45722727
46	CTCF	chr15:45722483-45722753	HUVEC	blood vessel:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
47	ATF3	chr15:45722425-45722773	H1-hESC	embryonic stem cell:	n/a	chr15:45722661-45722681 chr15:45722724-45722744
48	ELF1	chr15:45722362-45722983	GM12878	blood:	n/a	n/a
49	SMC3	chr15:45722577-45722668	Hela-S3	cervix:	n/a	chr15:45722655-45722665 chr15:45722651-45722665 chr15:45722596-45722610 chr15:45722600-45722610
50	CTCF	chr15:45722247-45722935	GM19238	blood:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45722608-45722658	SKMC	muscle:	n/a
2	chr15:45722608-45722658	ProgFib	skin:	n/a
3	chr15:45722589-45722639	SK-N-SH_RA	brain:	n/a
4	chr15:45722589-45722639	NHBE	bronchial:	n/a
5	chr15:45722608-45722658	HEK293	kidney:	embryo
6	chr15:45722608-45722658	GM19239	blood:	n/a
7	chr15:45722589-45722639	H1-hESC	embryonic stem cell:	embryo
8	chr15:45722589-45722639	PFSK-1	brain:	n/a
9	chr15:45722589-45722639	CMK	blood:	n/a
10	chr15:45722589-45722639	PrEC	prostate:	n/a
11	chr15:45722598-45722648	HCPEpiC	choroid plexus:	n/a
12	chr15:45722598-45722648	Hela-S3	cervix:	n/a
13	chr15:45722598-45722648	HRPEpiC	eye:	n/a
14	chr15:45722589-45722639	HRE	kidney:	n/a
15	chr15:45722608-45722658	HEEpiC	esophagus:	n/a
16	chr15:45722598-45722648	AG10803	skin:	n/a
17	chr15:45722608-45722658	HIPEpiC	eye:	n/a
18	chr15:45722608-45722658	HCPEpiC	choroid plexus:	n/a
19	chr15:45722589-45722639	GM12891	blood:	n/a
20	chr15:45722598-45722648	ProgFib	skin:	n/a
21	chr15:45722598-45722648	AG09309	skin:	n/a
22	chr15:45722589-45722639	GM06990	blood:	n/a
23	chr15:45722598-45722648	AG04450	lung:	fetal
24	chr15:45722608-45722658	GM12892	blood:	n/a
25	chr15:45722598-45722648	Hepatocyte	liver:	n/a
26	chr15:45722598-45722648	NHDF-neo	bronchial:	n/a
27	chr15:45722608-45722658	Jurkat	blood:	n/a
28	chr15:45722589-45722639	NT2-D1	testis:	n/a
29	chr15:45722608-45722658	AG09309	skin:	n/a
30	chr15:45722589-45722639	SKMC	muscle:	n/a
31	chr15:45722608-45722658	Caco-2	colon:	n/a
32	chr15:45722608-45722658	U87	brain:	n/a
33	chr15:45722608-45722658	HepG2	liver:	n/a
34	chr15:45722598-45722648	NH-A	brain:	n/a
35	chr15:45722608-45722658	ECC-1	luminal epithelium:	n/a
36	chr15:45722608-45722658	PFSK-1	brain:	n/a
37	chr15:45722589-45722639	AG09319	gingival:	n/a
38	chr15:45722608-45722658	NB4	blood:	n/a
39	chr15:45722598-45722648	SK-N-SH	brain:	n/a
40	chr15:45722608-45722658	AG10803	skin:	n/a
41	chr15:45722598-45722648	ovcar-3	ovarian:	n/a
42	chr15:45722598-45722648	HL-60	blood:	n/a
43	chr15:45722608-45722658	MCF10A-Er-Src	breast:	n/a
44	chr15:45722598-45722648	GM12878	blood:	n/a
45	chr15:45722608-45722658	HRCEpiC	kidney:	n/a
46	chr15:45722608-45722658	BJ	skin:	n/a
47	chr15:45722589-45722639	ovcar-3	ovarian:	n/a
48	chr15:45722589-45722639	RPTEC	kidney:	n/a
49	chr15:45722598-45722648	SAEC	small airway:	n/a
50	chr15:45722598-45722648	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45722217..45722835-chr7:138482552..138483201,2	MCF-7	breast:
2	chr15:45721845..45722642-chr15:45750590..45751302,2	MCF-7	breast:
3	chr15:45707965..45711032-chr15:45722401..45726088,3	MCF-7	breast:
4	chr15:45722040..45723226-chr15:45748321..45751272,60	MCF-7	breast:

Variant related genes	Relation type
C15orf48	TF binding region
MIR147B	TF binding region
MIR147B	CpG island
C15orf48	CpG island
ENSG00000171763	Chromatin interaction
ENSG00000214128	Chromatin interaction
ENSG00000259354	Chromatin interaction
ENSG00000105929	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10152337	0.96[ASN][1000 genomes]
rs10152697	0.96[ASN][1000 genomes]
rs10851425	0.93[EUR][1000 genomes]
rs12324848	0.96[ASN][1000 genomes]
rs1288852	0.98[EUR][1000 genomes]
rs1288861	0.98[ASN][1000 genomes]
rs1288863	0.93[EUR][1000 genomes]
rs1288865	0.94[EUR][1000 genomes]
rs16942066	0.87[ASN][1000 genomes]
rs1706799	0.85[ASN][1000 genomes]
rs17533716	0.85[ASN][1000 genomes]
rs17535381	0.96[ASN][1000 genomes]
rs17537244	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17618294	0.96[ASN][1000 genomes]
rs2433602	0.98[ASN][1000 genomes]
rs2453518	0.98[EUR][1000 genomes]
rs2453546	0.98[ASN][1000 genomes]
rs2461706	0.98[ASN][1000 genomes]
rs2486287	0.98[ASN][1000 genomes]
rs2668746	0.83[ASN][1000 genomes]
rs55721266	0.96[ASN][1000 genomes]
rs55904415	0.96[ASN][1000 genomes]
rs56267974	0.98[ASN][1000 genomes]
rs56273246	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306977	0.98[ASN][1000 genomes]
rs56937414	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56967490	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57369693	0.96[ASN][1000 genomes]
rs57419781	0.96[ASN][1000 genomes]
rs61301536	0.98[ASN][1000 genomes]
rs72709081	0.87[ASN][1000 genomes]
rs72709084	0.87[ASN][1000 genomes]
rs72709088	0.96[ASN][1000 genomes]
rs72711253	0.98[ASN][1000 genomes]
rs72711255	0.98[ASN][1000 genomes]
rs72711259	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972405	0.96[ASN][1000 genomes]
rs9972498	0.96[ASN][1000 genomes]
rs9972528	0.96[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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45706600-45722800	Weak transcription	Fetal Heart	heart
2	chr15:45712800-45722800	Weak transcription	Primary T cells from cord blood	blood
3	chr15:45722000-45722800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr15:45722200-45722800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr15:45722200-45722800	Enhancers	Primary B cells from cord blood	blood
6	chr15:45722200-45722800	Enhancers	Primary B cells from peripheral blood	blood
7	chr15:45722200-45722800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr15:45722200-45722800	Enhancers	Placenta	Placenta
9	chr15:45722200-45722800	Enhancers	Stomach Mucosa	stomach
10	chr15:45722200-45723400	Active TSS	A549	lung
11	chr15:45722400-45722800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:45722400-45722800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr15:45722400-45722800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:45722400-45722800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:45722400-45722800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:45722400-45722800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr15:45722400-45722800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr15:45722400-45722800	Enhancers	Fetal Thymus	thymus
19	chr15:45722400-45723000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr15:45722400-45723000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr15:45722400-45723000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:45722400-45723000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr15:45722400-45723000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:45722400-45723000	Active TSS	Brain Angular Gyrus	brain
25	chr15:45722400-45723000	Active TSS	Brain Anterior Caudate	brain
26	chr15:45722400-45723000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:45722400-45723000	Enhancers	Lung	lung
28	chr15:45722400-45723000	Active TSS	HSMM	muscle
29	chr15:45722400-45723200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr15:45722400-45723200	Active TSS	Colon Smooth Muscle	Colon
31	chr15:45722600-45722800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:45722600-45722800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:45722600-45722800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:45722600-45722800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr15:45722600-45722800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:45722600-45722800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:45722600-45722800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:45722600-45722800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr15:45722600-45722800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:45722600-45722800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr15:45722600-45722800	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr15:45722600-45722800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:45722600-45722800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
44	chr15:45722600-45722800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
45	chr15:45722600-45722800	Flanking Active TSS	Ovary	ovary
46	chr15:45722600-45722800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr15:45722600-45722800	Active TSS	Right Atrium	heart
48	chr15:45722600-45722800	Active TSS	Right Ventricle	heart
49	chr15:45722600-45722800	Enhancers	Spleen	Spleen
50	chr15:45722600-45722800	Active TSS	HepG2	liver

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