Variant report

Variant	rs72715746
Chromosome Location	chr14:55741370-55741371
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	GATA1	chr14:55740821-55741914	PBDE	blood:	n/a	chr14:55741749-55741770 chr14:55740885-55740895 chr14:55741521-55741530 chr14:55741756-55741763 chr14:55740885-55740894 chr14:55741755-55741765 chr14:55741756-55741765 chr14:55741756-55741763 chr14:55740882-55740898 chr14:55741753-55741763 chr14:55741756-55741763 chr14:55740884-55740896 chr14:55741752-55741768 chr14:55741546-55741555
2	GATA3	chr14:55741258-55742156	SK-N-SH	brain:	n/a	chr14:55741749-55741770 chr14:55741521-55741530 chr14:55741756-55741763 chr14:55741755-55741765 chr14:55741756-55741765 chr14:55741756-55741763 chr14:55741753-55741763 chr14:55741756-55741763 chr14:55741752-55741768 chr14:55741546-55741555
3	TCF7L2	chr14:55741354-55741890	HEK293	kidney:	n/a	n/a
4	EP300	chr14:55740736-55742328	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr14:55741300-55742041	SK-N-SH	brain:	n/a	n/a
6	NFIC	chr14:55741298-55741927	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr14:55741228-55742039	SK-N-SH	brain:	n/a	chr14:55741749-55741770 chr14:55741521-55741530 chr14:55741756-55741763 chr14:55741755-55741765 chr14:55741756-55741765 chr14:55741756-55741763 chr14:55741753-55741763 chr14:55741756-55741763 chr14:55741752-55741768 chr14:55741546-55741555

No.	Distal block	Cell Line	Cell type
1	chr14:55738930..55742893-chr14:55754578..55758061,4	K562	blood:
2	chr14:55738930..55742893-chr14:55754578..55757898,4	K562	blood:
3	chr14:55741219..55743724-chr14:55842987..55845044,2	K562	blood:

Variant related genes	Relation type
ENSG00000258413	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17672298	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57571649	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68153899	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72715709	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72715786	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55737600-55741400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:55739000-55751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55739000-55755600	Weak transcription	Gastric	stomach
4	chr14:55739200-55743200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr14:55739200-55745600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:55739400-55742800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:55739600-55741600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:55739600-55741800	Enhancers	HMEC	breast
10	chr14:55739600-55742000	Enhancers	Liver	Liver
11	chr14:55739600-55742200	Enhancers	Colon Smooth Muscle	Colon
12	chr14:55739600-55742200	Enhancers	Stomach Mucosa	stomach
13	chr14:55739600-55744400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:55739600-55744800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:55739600-55744800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:55739600-55745400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:55739600-55745400	Weak transcription	Fetal Stomach	stomach
18	chr14:55739800-55741400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:55739800-55741800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:55739800-55742200	Enhancers	NHLF	lung
21	chr14:55739800-55742200	Enhancers	Osteobl	bone
22	chr14:55739800-55742400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:55739800-55744200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:55740000-55741400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:55740000-55741600	Weak transcription	Fetal Kidney	kidney
26	chr14:55740000-55741800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:55740000-55742000	Enhancers	Rectal Smooth Muscle	rectum
28	chr14:55740000-55742000	Enhancers	HUVEC	blood vessel
29	chr14:55740000-55742200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:55740000-55742200	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:55740000-55742200	Enhancers	NHDF-Ad	bronchial
32	chr14:55740000-55742400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:55740000-55742800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr14:55740000-55743600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:55740000-55745600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:55740000-55746400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:55740000-55751400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:55740000-55751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
40	chr14:55740200-55741600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:55740200-55741600	Enhancers	Fetal Heart	heart
42	chr14:55740200-55741800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:55740200-55741800	Enhancers	NHEK	skin
44	chr14:55740200-55742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:55740200-55742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:55740200-55742000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:55740200-55742000	Enhancers	Fetal Lung	lung
48	chr14:55740200-55742200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr14:55740200-55742600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:55740200-55744800	Enhancers	HepG2	liver

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