Variant report

Variant	rs17851892
Chromosome Location	chr18:30349691-30349692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr18:30349564-30350580	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr18:30349161-30350570	HepG2	liver:	n/a	n/a
3	CHD2	chr18:30349596-30351039	HepG2	liver:	n/a	n/a
4	MAX	chr18:30349450-30350212	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr18:30349543-30349869	HepG2	liver:	n/a	n/a
6	FOXP2	chr18:30349540-30350301	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr18:30349560-30349964	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOXA2	chr18:30349218-30349756	HepG2	liver:	n/a	n/a
9	YY1	chr18:30349546-30349914	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr18:30349620-30350206	MCF-7	breast:	n/a	n/a
11	HEY1	chr18:30349545-30351734	HepG2	liver:	n/a	n/a
12	POLR2A	chr18:30349547-30350600	ECC-1	luminal epithelium:	n/a	n/a
13	SIN3A	chr18:30349130-30351725	H1-hESC	embryonic stem cell:	n/a	chr18:30350832-30350843
14	FOXA1	chr18:30349078-30349707	HepG2	liver:	n/a	n/a
15	MAX	chr18:30349155-30350010	HepG2	liver:	n/a	n/a
16	ZNF263	chr18:30349625-30350523	HEK293-T-REx	kidney:	n/a	n/a
17	NFIC	chr18:30349546-30350183	HepG2	liver:	n/a	n/a
18	JUND	chr18:30349621-30349805	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr18:30349526-30350245	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr18:30349164-30351097	HepG2	liver:	n/a	n/a
21	POLR2A	chr18:30349543-30350661	HepG2	liver:	n/a	n/a
22	POLR2A	chr18:30348684-30352312	HepG2	liver:	n/a	n/a
23	NFIC	chr18:30349577-30350238	ECC-1	luminal epithelium:	n/a	n/a
24	BHLHE40	chr18:30349484-30350573	HepG2	liver:	n/a	n/a
25	MXI1	chr18:30349162-30351185	HepG2	liver:	n/a	n/a
26	POLR2A	chr18:30349691-30350105	MCF-7	breast:	n/a	n/a
27	TCF12	chr18:30349528-30350459	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr18:30349564-30349998	HepG2	liver:	n/a	n/a
29	POLR2A	chr18:30349543-30350596	HepG2	liver:	n/a	n/a
30	MAX	chr18:30349515-30350254	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr18:30349513-30350626	HepG2	liver:	n/a	n/a
32	MAX	chr18:30349544-30350691	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr18:30349518-30349735	HepG2	liver:	n/a	n/a
34	TBP	chr18:30349313-30350781	HepG2	liver:	n/a	n/a
35	TAF1	chr18:30349554-30351085	HepG2	liver:	n/a	n/a
36	TAF1	chr18:30349571-30350607	HepG2	liver:	n/a	n/a
37	CEBPD	chr18:30349372-30349771	HepG2	liver:	n/a	n/a
38	ARID3A	chr18:30349683-30349881	HepG2	liver:	n/a	n/a
39	MYBL2	chr18:30349471-30350037	HepG2	liver:	n/a	n/a
40	MYBL2	chr18:30349117-30349942	HepG2	liver:	n/a	n/a
41	MAX	chr18:30349575-30350084	MCF-7	breast:	n/a	n/a
42	RCOR1	chr18:30349305-30350520	HepG2	liver:	n/a	n/a
43	YY1	chr18:30349428-30350046	HepG2	liver:	n/a	n/a
44	CHD2	chr18:30349614-30349909	H1-hESC	embryonic stem cell:	n/a	n/a
45	HNF4A	chr18:30349321-30351064	HepG2	liver:	n/a	chr18:30349419-30349431
46	RAD21	chr18:30349685-30349883	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr18:30349606-30350177	MCF-7	breast:	n/a	n/a
48	NFIC	chr18:30349515-30350206	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr18:30349572-30349739	H1-hESC	embryonic stem cell:	n/a	n/a
50	SIN3AK20	chr18:30349520-30349696	HepG2	liver:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:30348555..30351173-chr18:30358732..30360847,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228835	TF binding region
ENSG00000243355	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12232690	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1523576	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17738786	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62092151	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7232060	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234849	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7241727	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8084642	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8086995	0.83[AMR][1000 genomes]
rs8097599	0.80[AMR][1000 genomes]
rs9946321	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9954239	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9959560	0.80[AMR][1000 genomes]

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30348000-30350000	Flanking Active TSS	Primary B cells from peripheral blood	blood
2	chr18:30348800-30349800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:30348800-30350200	Bivalent/Poised TSS	HepG2	liver
4	chr18:30348800-30351000	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:30348800-30353600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr18:30349000-30350000	Active TSS	Spleen	Spleen
7	chr18:30349000-30350200	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr18:30349200-30350000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
9	chr18:30349200-30350600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:30349200-30351200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr18:30349200-30351600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:30349200-30352600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:30349200-30353600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr18:30349400-30349800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr18:30349400-30349800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:30349400-30349800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr18:30349400-30349800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:30349400-30350800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:30349400-30351600	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr18:30349400-30352400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr18:30349400-30352600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr18:30349400-30352600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr18:30349400-30352600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr18:30349600-30349800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:30349600-30349800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:30349600-30349800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
27	chr18:30349600-30349800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr18:30349600-30349800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
29	chr18:30349600-30349800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr18:30349600-30349800	Bivalent/Poised TSS	Colonic Mucosa	Colon
31	chr18:30349600-30349800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
32	chr18:30349600-30349800	Bivalent Enhancer	Fetal Stomach	stomach
33	chr18:30349600-30349800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
34	chr18:30349600-30349800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr18:30349600-30349800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr18:30349600-30350000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr18:30349600-30350000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:30349600-30350000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr18:30349600-30350000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr18:30349600-30350000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr18:30349600-30350000	Flanking Bivalent TSS/Enh	Placenta	Placenta
42	chr18:30349600-30350000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
43	chr18:30349600-30350000	Flanking Active TSS	Pancreas	Pancrea
44	chr18:30349600-30350200	Flanking Active TSS	Ovary	ovary
45	chr18:30349600-30350200	Enhancers	Right Atrium	heart
46	chr18:30349600-30350400	Enhancers	Lung	lung
47	chr18:30349600-30350600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
48	chr18:30349600-30350600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
49	chr18:30349600-30350600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
50	chr18:30349600-30350600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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