Variant report

Variant	rs73390358
Chromosome Location	chr15:49461956-49461957
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	MAX	chr15:49461830-49462919	K562	blood:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
2	CREB1	chr15:49461869-49462554	K562	blood:	n/a	n/a
3	IRF1	chr15:49461776-49463264	K562	blood:	n/a	chr15:49462129-49462143
4	SETDB1	chr15:49461887-49462571	U2OS	brain:	n/a	n/a
5	BHLHE40	chr15:49461793-49463107	K562	blood:	n/a	n/a
6	POLR2A	chr15:49461948-49462970	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:49461944-49463814	K562	blood:	n/a	n/a
8	TAL1	chr15:49461767-49463069	K562	blood:	n/a	n/a
9	POLR2A	chr15:49461152-49463164	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr15:49461929-49462796	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr15:49461882-49463022	HCT-116	colon:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
12	ZMIZ1	chr15:49461941-49462902	K562	blood:	n/a	n/a
13	IRF1	chr15:49461901-49462741	K562	blood:	n/a	chr15:49462129-49462143
14	POLR2A	chr15:49461893-49463296	HL-60	blood:	n/a	n/a
15	MAX	chr15:49461899-49462964	ECC-1	luminal epithelium:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
16	POLR2A	chr15:49461860-49462969	HepG2	liver:	n/a	n/a
17	POLR2A	chr15:49461738-49463162	MCF10A-Er-Src	breast:	n/a	n/a
18	MTA3	chr15:49461897-49462788	GM12878	blood:	n/a	n/a
19	MAX	chr15:49461949-49462912	HepG2	liver:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
20	POLR2A	chr15:49461944-49462745	GM12892	blood:	n/a	n/a
21	CREB1	chr15:49461932-49462690	HepG2	liver:	n/a	n/a
22	TBL1XR1	chr15:49461907-49463077	K562	blood:	n/a	n/a
23	JUN	chr15:49461134-49462981	K562	blood:	n/a	n/a
24	CEBPB	chr15:49461826-49462600	K562	blood:	n/a	n/a
25	POLR2A	chr15:49461868-49463258	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr15:49461872-49462376	K562	blood:	n/a	n/a
27	GTF2F1	chr15:49461849-49462881	K562	blood:	n/a	n/a
28	MAX	chr15:49461913-49462985	A549	lung:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
29	POLR2A	chr15:49461933-49462801	K562	blood:	n/a	n/a
30	CREB1	chr15:49461731-49462765	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr15:49461747-49462896	K562	blood:	n/a	n/a
32	PML	chr15:49461911-49463270	K562	blood:	n/a	n/a
33	E2F6	chr15:49461917-49462515	H1-hESC	embryonic stem cell:	n/a	n/a
34	MXI1	chr15:49461387-49463278	IMR90	lung:	n/a	chr15:49462708-49462717 chr15:49462710-49462719
35	REST	chr15:49461938-49463344	HL-60	blood:	n/a	chr15:49462403-49462413
36	CREB1	chr15:49461835-49462786	GM12878	blood:	n/a	n/a
37	EP300	chr15:49461836-49462569	K562	blood:	n/a	chr15:49462373-49462389
38	MAX	chr15:49461847-49463033	ECC-1	luminal epithelium:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
39	MAX	chr15:49461908-49462957	HCT-116	colon:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
40	ZNF384	chr15:49461858-49464317	K562	blood:	n/a	n/a
41	ZC3H11A	chr15:49461824-49462622	K562	blood:	n/a	n/a
42	TEAD4	chr15:49461929-49463123	K562	blood:	n/a	n/a
43	MAX	chr15:49461842-49463051	A549	lung:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
44	KAP1	chr15:49461778-49462687	HEK293	kidney:	n/a	n/a
45	PML	chr15:49461897-49462872	K562	blood:	n/a	n/a
46	HCFC1	chr15:49461769-49462834	K562	blood:	n/a	n/a
47	MYC	chr15:49461885-49463013	A549	lung:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
48	MXI1	chr15:49461500-49463318	SK-N-SH	brain:	n/a	chr15:49462708-49462717 chr15:49462710-49462719
49	MAX	chr15:49461953-49462884	K562	blood:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
50	POLR2A	chr15:49461887-49462852	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:49461881..49462807-chr16:8961792..8962755,2	Hela-S3	cervix:
2	chr1:230202583..230203126-chr15:49461919..49462494,2	HCT-116	colon:
3	chr15:49287770..49290025-chr15:49461376..49464212,2	K562	blood:
4	chr15:49446083..49452367-chr15:49460693..49464702,19	K562	blood:
5	chr15:49103040..49104751-chr15:49461062..49462834,2	K562	blood:
6	chr15:49461247..49464422-chr15:49530030..49534036,3	K562	blood:
7	chr11:67168670..67169414-chr15:49461835..49462824,2	Hela-S3	cervix:
8	chr15:49446471..49449731-chr15:49460521..49465602,13	MCF-7	breast:
9	chr15:49337641..49340367-chr15:49461061..49463741,3	MCF-7	breast:
10	chr15:49443824..49452367-chr15:49460648..49465189,20	K562	blood:

Variant related genes	Relation type
MIR4716	TF binding region
GALK2	TF binding region
ENSG00000153048	Chromatin interaction
ENSG00000143641	Chromatin interaction
ENSG00000138593	Chromatin interaction
ENSG00000166200	Chromatin interaction
ENSG00000156958	Chromatin interaction
ENSG00000103995	Chromatin interaction
ENSG00000259467	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000207105	Chromatin interaction

rs_ID	r²[population]
rs73390372	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392215	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392279	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394308	0.82[AFR][1000 genomes]

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49448800-49462000	Weak transcription	Placenta	Placenta
2	chr15:49448800-49462000	Weak transcription	Left Ventricle	heart
3	chr15:49448800-49462000	Weak transcription	Lung	lung
4	chr15:49448800-49462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:49448800-49462200	Weak transcription	Ovary	ovary
6	chr15:49448800-49462200	Weak transcription	Pancreas	Pancrea
7	chr15:49448800-49462200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:49448800-49462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:49448800-49462400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:49448800-49462400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:49448800-49462400	Weak transcription	Spleen	Spleen
12	chr15:49449000-49462000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:49449000-49462000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:49449000-49462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:49449000-49462000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:49449000-49462000	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:49449000-49462000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:49449000-49462200	Weak transcription	Thymus	Thymus
19	chr15:49449200-49462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:49449200-49462000	Weak transcription	Fetal Stomach	stomach
21	chr15:49449200-49462000	Weak transcription	Fetal Thymus	thymus
22	chr15:49449200-49462000	Weak transcription	NH-A	brain
23	chr15:49449400-49462000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:49449400-49462000	Weak transcription	Fetal Brain Female	brain
25	chr15:49449400-49462000	Weak transcription	Fetal Lung	lung
26	chr15:49449400-49462000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:49449600-49462000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:49449600-49462200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:49449800-49462000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr15:49450000-49462000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:49450400-49462000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:49455000-49462000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr15:49455000-49462200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:49455200-49462000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:49455200-49462000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:49455200-49462000	Weak transcription	HSMM	muscle
37	chr15:49455200-49462000	Weak transcription	NHLF	lung
38	chr15:49455400-49462000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:49455400-49462000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:49455400-49462000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:49455400-49462000	Weak transcription	Liver	Liver
42	chr15:49455400-49462000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr15:49455400-49462000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr15:49458200-49462200	Weak transcription	HSMMtube	muscle
45	chr15:49461200-49462000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:49461400-49462000	Enhancers	Small Intestine	intestine
47	chr15:49461600-49462000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr15:49461600-49462000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr15:49461600-49462000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:49461600-49462000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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