Variant report

Variant	rs28733392
Chromosome Location	chr14:105993258-105993259
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	ZBTB7A	chr14:105993187-105993376	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:105992833-105994940	HepG2	liver:	n/a	n/a
3	ZBTB7A	chr14:105993021-105993727	ECC-1	luminal epithelium:	n/a	n/a
4	ZNF263	chr14:105993203-105993345	HEK293-T-REx	kidney:	n/a	chr14:105993261-105993270
5	MAZ	chr14:105992012-105993939	IMR90	lung:	n/a	chr14:105993815-105993825 chr14:105992759-105992768 chr14:105993368-105993377 chr14:105993648-105993657 chr14:105992779-105992789
6	CTCF	chr14:105993200-105993490	AG04449	skin:	n/a	chr14:105993246-105993259
7	ZBTB7A	chr14:105992962-105993966	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105938840..105941585-chr14:105992777..105995676,2	MCF-7	breast:
2	chr14:105955528..105958204-chr14:105991803..105994725,5	K562	blood:
3	chr14:105830942..105834686-chr14:105992333..105996584,4	K562	blood:
4	chr14:105950525..105959761-chr14:105989345..105997494,25	MCF-7	breast:
5	chr14:105955528..105957871-chr14:105992039..105994502,3	K562	blood:
6	chr14:105914511..105916451-chr14:105992688..105994743,2	MCF-7	breast:
7	chr14:105940935..105943956-chr14:105992893..105994957,3	MCF-7	breast:
8	chr14:105944424..105949494-chr14:105991782..105997266,9	MCF-7	breast:
9	chr14:105950410..105961012-chr14:105989009..105997120,20	MCF-7	breast:
10	chr14:105963314..105965830-chr14:105992203..105995001,5	MCF-7	breast:

Variant related genes	Relation type
TMEM121	TF binding region
ENSG00000213145	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000257341	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10133083	0.84[EUR][1000 genomes]
rs10136015	0.84[EUR][1000 genomes]
rs10139300	0.84[EUR][1000 genomes]
rs10139744	0.84[EUR][1000 genomes]
rs10147392	0.85[EUR][1000 genomes]
rs10151805	0.84[EUR][1000 genomes]
rs10152050	0.88[EUR][1000 genomes]
rs11624007	0.97[EUR][1000 genomes]
rs11628497	0.84[EUR][1000 genomes]
rs12717698	0.84[EUR][1000 genomes]
rs12893999	0.84[EUR][1000 genomes]
rs13379293	0.85[EUR][1000 genomes]
rs28402171	0.84[EUR][1000 genomes]
rs28431397	0.84[EUR][1000 genomes]
rs28662250	0.98[EUR][1000 genomes]
rs35511437	0.81[EUR][1000 genomes]
rs35590487	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35592422	0.99[EUR][1000 genomes]
rs4074453	0.98[EUR][1000 genomes]
rs4074937	0.99[EUR][1000 genomes]
rs4075104	0.99[EUR][1000 genomes]
rs4075105	0.99[EUR][1000 genomes]
rs55958808	0.84[EUR][1000 genomes]
rs58087925	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7141834	0.84[EUR][1000 genomes]
rs7160747	0.88[EUR][1000 genomes]
rs8003942	0.83[EUR][1000 genomes]
rs8004007	0.84[EUR][1000 genomes]
rs8005568	0.83[EUR][1000 genomes]
rs8013055	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8014713	0.85[EUR][1000 genomes]
rs8014913	0.85[EUR][1000 genomes]
rs8021330	0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105991800-105993400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:105992000-105994000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:105992000-105994400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:105992000-105994400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:105992200-105993400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr14:105992200-105993400	Active TSS	Brain Hippocampus Middle	brain
7	chr14:105992200-105993400	Active TSS	Colon Smooth Muscle	Colon
8	chr14:105992200-105993400	Active TSS	Gastric	stomach
9	chr14:105992200-105993600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr14:105992200-105994000	Active TSS	Brain Anterior Caudate	brain
11	chr14:105992200-105994000	Active TSS	Brain Substantia Nigra	brain
12	chr14:105992200-105994000	Bivalent/Poised TSS	Thymus	Thymus
13	chr14:105992200-105995200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:105992400-105993400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr14:105992400-105993400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:105992400-105993400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr14:105992400-105993400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:105992400-105993400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr14:105992400-105993400	Active TSS	Left Ventricle	heart
20	chr14:105992400-105993400	Active TSS	Pancreas	Pancrea
21	chr14:105992400-105993600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr14:105992400-105993600	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr14:105992400-105993600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr14:105992400-105993600	Active TSS	Osteobl	bone
25	chr14:105992400-105994000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:105992400-105994000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:105992400-105994000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:105992400-105994000	Active TSS	Brain Cingulate Gyrus	brain
29	chr14:105992400-105994000	Active TSS	Rectal Smooth Muscle	rectum
30	chr14:105992400-105994000	Active TSS	HepG2	liver
31	chr14:105992400-105994400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr14:105992400-105994800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr14:105992400-105995200	Active TSS	Aorta	Aorta
34	chr14:105992400-105995200	Active TSS	Brain Angular Gyrus	brain
35	chr14:105992400-105995200	Active TSS	Right Atrium	heart
36	chr14:105992400-105995200	Active TSS	HSMM	muscle
37	chr14:105992400-105995400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:105992400-105996800	Enhancers	Fetal Brain Male	brain
39	chr14:105992600-105993400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:105992600-105993400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:105992600-105993400	Active TSS	Ovary	ovary
42	chr14:105992600-105993400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
43	chr14:105992600-105993400	Active TSS	HUVEC	blood vessel
44	chr14:105992600-105993600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:105992600-105993600	Active TSS	NH-A	brain
46	chr14:105992600-105993800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr14:105992600-105994000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr14:105992600-105994200	Active TSS	A549	lung
49	chr14:105992600-105994800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:105992800-105993400	Active TSS	Psoas Muscle	Psoas

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