Variant report

Variant	rs72713199
Chromosome Location	chr15:45937632-45937633
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	FOS	chr15:45937413-45938795	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr15:45937522-45937851	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr15:45937526-45937900	HepG2	liver:	n/a	n/a
4	MYC	chr15:45937436-45938223	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr15:45937212-45938733	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr15:45937261-45938155	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr15:45937525-45937983	A549	lung:	n/a	n/a
8	CEBPB	chr15:45937505-45937794	HepG2	liver:	n/a	n/a
9	CEBPB	chr15:45937532-45937896	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr15:45937508-45937921	MCF-7	breast:	n/a	n/a
11	POLR2A	chr15:45937627-45938233	PANC-1	pancreas:	n/a	n/a
12	NR3C1	chr15:45937530-45938251	A549	lung:	n/a	n/a
13	CEBPB	chr15:45937509-45938117	IMR90	lung:	n/a	n/a
14	STAT3	chr15:45937143-45938256	MCF10A-Er-Src	breast:	n/a	chr15:45937962-45937973 chr15:45937501-45937508
15	CEBPB	chr15:45937370-45938276	A549	lung:	n/a	n/a
16	STAT3	chr15:45937458-45938267	MCF10A-Er-Src	breast:	n/a	chr15:45937962-45937973 chr15:45937501-45937508
17	STAT3	chr15:45937447-45938267	MCF10A-Er-Src	breast:	n/a	chr15:45937962-45937973 chr15:45937501-45937508
18	POLR2A	chr15:45937600-45938047	MCF10A-Er-Src	breast:	n/a	n/a
19	CEBPB	chr15:45937591-45937846	K562	blood:	n/a	n/a
20	CEBPB	chr15:45937523-45937860	K562	blood:	n/a	n/a
21	CEBPB	chr15:45937488-45937887	MCF-7	breast:	n/a	n/a
22	MYC	chr15:45937496-45938209	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr15:45937522-45937881	K562	blood:	n/a	n/a
24	GATA3	chr15:45937628-45938387	A549	lung:	n/a	n/a
25	CEBPB	chr15:45937520-45938135	A549	lung:	n/a	n/a
26	POLR2A	chr15:45937193-45938267	MCF10A-Er-Src	breast:	n/a	n/a
27	NR3C1	chr15:45937592-45938182	A549	lung:	n/a	n/a
28	STAT3	chr15:45937561-45938187	MCF10A-Er-Src	breast:	n/a	chr15:45937962-45937973
29	CEBPB	chr15:45937569-45937878	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45936300..45938060-chr15:45941234..45942847,2	MCF-7	breast:
2	chr15:45931689..45934379-chr15:45936432..45937938,2	MCF-7	breast:

Variant related genes	Relation type
SQRDL	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs16945097	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16946621	0.80[EUR][1000 genomes]
rs17627219	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1966763	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55755923	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55806911	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55913172	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56081351	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56190351	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56259807	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56304405	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56375332	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56395216	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57291883	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59593563	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60351453	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60378269	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61209164	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs68044128	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7164956	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7165827	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7178395	0.91[EUR][1000 genomes]
rs7178879	0.82[ASN][1000 genomes]
rs7179265	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7179903	0.82[ASN][1000 genomes]
rs7181436	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72713106	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72713107	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72713168	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72713169	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72713171	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72713172	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72713175	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72713177	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72713178	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72713182	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713185	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713191	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715003	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715005	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72715008	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72715010	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715014	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715019	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715020	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715077	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715082	0.83[EUR][1000 genomes]
rs8041902	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
4	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv526945	chr15:45935755-45941689	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45929000-45939000	Enhancers	Stomach Mucosa	stomach
2	chr15:45930000-45937800	Weak transcription	Right Ventricle	heart
3	chr15:45930400-45940800	Weak transcription	Fetal Thymus	thymus
4	chr15:45930600-45940800	Weak transcription	Thymus	Thymus
5	chr15:45931000-45938800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:45933800-45951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:45934200-45938600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:45934200-45961600	Weak transcription	Fetal Kidney	kidney
9	chr15:45934400-45938800	Enhancers	NHLF	lung
10	chr15:45934800-45937800	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:45934800-45937800	Weak transcription	Gastric	stomach
12	chr15:45934800-45937800	Weak transcription	Left Ventricle	heart
13	chr15:45934800-45945800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:45935800-45939000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr15:45936400-45938600	Enhancers	Esophagus	oesophagus
16	chr15:45936400-45938600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr15:45936400-45939000	Enhancers	HMEC	breast
18	chr15:45936600-45938000	Enhancers	Primary T cells from cord blood	blood
19	chr15:45936600-45938000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr15:45936600-45938200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:45936600-45938200	Enhancers	Liver	Liver
22	chr15:45936600-45938600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr15:45936600-45938600	Enhancers	Pancreas	Pancrea
24	chr15:45936600-45938600	Enhancers	Spleen	Spleen
25	chr15:45936600-45938600	Enhancers	GM12878-XiMat	blood
26	chr15:45936600-45938800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:45936600-45938800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr15:45936600-45939000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr15:45936600-45939000	Enhancers	Colonic Mucosa	Colon
30	chr15:45936600-45939200	Enhancers	Fetal Intestine Small	intestine
31	chr15:45936600-45939600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:45936600-45942800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr15:45936800-45937800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:45936800-45937800	Enhancers	NHEK	skin
35	chr15:45936800-45938000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr15:45936800-45938000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr15:45936800-45938000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr15:45936800-45938000	Enhancers	Hela-S3	cervix
39	chr15:45936800-45938200	Enhancers	Duodenum Mucosa	Duodenum
40	chr15:45936800-45938400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr15:45936800-45938600	Enhancers	Psoas Muscle	Psoas
42	chr15:45936800-45938600	Enhancers	Right Atrium	heart
43	chr15:45936800-45938800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:45936800-45938800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:45936800-45938800	Enhancers	Fetal Intestine Large	intestine
46	chr15:45936800-45938800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr15:45936800-45938800	Enhancers	Small Intestine	intestine
48	chr15:45936800-45939000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:45936800-45939000	Enhancers	Colon Smooth Muscle	Colon
50	chr15:45936800-45939400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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