Variant report

Variant	rs72878776
Chromosome Location	chr18:24443052-24443053
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	REST	chr18:24442980-24443293	H1-hESC	embryonic stem cell:	n/a	chr18:24443071-24443081 chr18:24443238-24443251 chr18:24443069-24443083 chr18:24443172-24443181
2	YY1	chr18:24443032-24443476	ECC-1	luminal epithelium:	n/a	chr18:24443382-24443391
3	SIN3A	chr18:24443049-24443348	H1-hESC	embryonic stem cell:	n/a	chr18:24443235-24443244
4	REST	chr18:24443013-24443286	H1-hESC	embryonic stem cell:	n/a	chr18:24443071-24443081 chr18:24443238-24443251 chr18:24443069-24443083 chr18:24443172-24443181
5	ZNF143	chr18:24443039-24443662	H1-hESC	embryonic stem cell:	n/a	chr18:24443447-24443465 chr18:24443305-24443323 chr18:24443379-24443389
6	RAD21	chr18:24442933-24443429	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr18:24443041-24443454	MCF-7	breast:	n/a	n/a
8	REST	chr18:24443003-24443400	MCF-7	breast:	n/a	chr18:24443071-24443081 chr18:24443238-24443251 chr18:24443069-24443083 chr18:24443172-24443181
9	REST	chr18:24442977-24443392	ECC-1	luminal epithelium:	n/a	chr18:24443071-24443081 chr18:24443238-24443251 chr18:24443069-24443083 chr18:24443172-24443181
10	ZNF263	chr18:24442266-24444045	HEK293-T-REx	kidney:	n/a	chr18:24443497-24443506
11	TCF12	chr18:24442963-24443584	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr18:24443026-24443477	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr18:24442982-24443511	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr18:24443017-24443748	H1-hESC	embryonic stem cell:	n/a	n/a
15	NFIC	chr18:24443045-24443519	ECC-1	luminal epithelium:	n/a	n/a
16	MXI1	chr18:24442938-24443824	SK-N-SH	brain:	n/a	n/a
17	KAP1	chr18:24443023-24443683	HEK293	kidney:	n/a	n/a
18	TCF12	chr18:24442963-24443615	ECC-1	luminal epithelium:	n/a	n/a
19	E2F6	chr18:24443017-24443796	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
AQP4	TF binding region
AQP4-AS1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1058427	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661147	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11662880	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11665087	1.00[ASN][1000 genomes]
rs12963250	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12968026	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12970160	1.00[ASN][1000 genomes]
rs1595254	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942763	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16942806	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16942835	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16958776	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17614110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839319	1.00[ASN][1000 genomes]
rs34775621	1.00[ASN][1000 genomes]
rs35248760	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35531875	1.00[ASN][1000 genomes]
rs548220	1.00[ASN][1000 genomes]
rs55875625	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66950491	1.00[ASN][1000 genomes]
rs66985226	1.00[ASN][1000 genomes]
rs67207056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67384004	1.00[ASN][1000 genomes]
rs67461489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68036122	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71353404	1.00[ASN][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	esv2761995	chr18:24214286-24502570	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24423600-24443200	Weak transcription	Psoas Muscle	Psoas
2	chr18:24441200-24443800	Weak transcription	Brain Substantia Nigra	brain
3	chr18:24442000-24446600	Active TSS	Brain Anterior Caudate	brain
4	chr18:24442200-24443200	Enhancers	Lung	lung
5	chr18:24442200-24443400	Active TSS	Brain Hippocampus Middle	brain
6	chr18:24442800-24443400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:24442800-24443600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr18:24442800-24443600	Enhancers	Fetal Brain Male	brain
9	chr18:24442800-24444000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr18:24443000-24443200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr18:24443000-24443200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr18:24443000-24443200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:24443000-24443200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:24443000-24443200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:24443000-24443200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:24443000-24443200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:24443000-24443200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr18:24443000-24443200	Enhancers	Esophagus	oesophagus
19	chr18:24443000-24443200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
20	chr18:24443000-24443200	Bivalent/Poised TSS	Fetal Lung	lung
21	chr18:24443000-24443200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
22	chr18:24443000-24443200	Enhancers	Gastric	stomach
23	chr18:24443000-24443200	Flanking Active TSS	Ovary	ovary
24	chr18:24443000-24443200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr18:24443000-24443400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:24443000-24443400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:24443000-24443400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:24443000-24443400	Enhancers	Liver	Liver
29	chr18:24443000-24443400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr18:24443000-24443400	Bivalent/Poised TSS	Colonic Mucosa	Colon
31	chr18:24443000-24443400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr18:24443000-24443400	Active TSS	Fetal Brain Female	brain
33	chr18:24443000-24443400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr18:24443000-24443400	Flanking Active TSS	Right Ventricle	heart
35	chr18:24443000-24443400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr18:24443000-24443400	Bivalent Enhancer	Spleen	Spleen
37	chr18:24443000-24443600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:24443000-24443600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:24443000-24443600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr18:24443000-24443600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr18:24443000-24443600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr18:24443000-24443600	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr18:24443000-24443600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:24443000-24443600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr18:24443000-24443600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
46	chr18:24443000-24443600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr18:24443000-24443600	Flanking Active TSS	Pancreas	Pancrea
48	chr18:24443000-24443600	Active TSS	Right Atrium	heart
49	chr18:24443000-24443800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr18:24443000-24443800	Active TSS	H9 Cell Line	embryonic stem cell

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