Variant report

Variant	rs73425119
Chromosome Location	chr18:43753831-43753832
allele	C/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	CTCF	chr18:43753741-43754110	K562	blood:	n/a	chr18:43753886-43753902 chr18:43753888-43753901
2	CTCF	chr18:43753820-43753970	RPTEC	kidney:	n/a	chr18:43753886-43753902 chr18:43753888-43753901
3	ELF1	chr18:43753763-43754488	K562	blood:	n/a	chr18:43754141-43754150
4	POLR2A	chr18:43753672-43754310	K562	blood:	n/a	n/a
5	TBP	chr18:43753243-43754310	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr18:43753315-43754317	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr18:43753723-43754032	GM12878	blood:	n/a	chr18:43753891-43753903
8	POLR2A	chr18:43753350-43754413	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr18:43753392-43754081	H1-hESC	embryonic stem cell:	n/a	chr18:43753799-43753806
10	STAT3	chr18:43753719-43753915	MCF10A-Er-Src	breast:	n/a	chr18:43753764-43753787
11	USF2	chr18:43753824-43754023	H1-hESC	embryonic stem cell:	n/a	chr18:43753852-43753868
12	E2F6	chr18:43753293-43754070	H1-hESC	embryonic stem cell:	n/a	chr18:43753816-43753823 chr18:43754044-43754053 chr18:43753812-43753824 chr18:43753816-43753823 chr18:43753816-43753823 chr18:43753813-43753824
13	REST	chr18:43753811-43754075	SK-N-SH	brain:	n/a	chr18:43753859-43753877 chr18:43753850-43753863 chr18:43753862-43753875
14	FOXA2	chr18:43753805-43754186	A549	lung:	n/a	n/a
15	CTCF	chr18:43753800-43753950	HUVEC	blood vessel:	n/a	chr18:43753886-43753902 chr18:43753888-43753901
16	POLR2A	chr18:43753364-43754272	HEK293	kidney:	n/a	n/a
17	CTCF	chr18:43753800-43753950	HA-sp	spinal cord:	n/a	chr18:43753886-43753902 chr18:43753888-43753901
18	MAZ	chr18:43753352-43754305	HepG2	liver:	n/a	chr18:43753368-43753378
19	MAX	chr18:43753207-43754453	HepG2	liver:	n/a	chr18:43753368-43753378
20	EP300	chr18:43753138-43754326	ECC-1	luminal epithelium:	n/a	chr18:43754041-43754050 chr18:43753853-43753869
21	MYBL2	chr18:43753259-43754225	HepG2	liver:	n/a	n/a
22	TAL1	chr18:43753317-43754174	K562	blood:	n/a	n/a
23	ZNF143	chr18:43753296-43754159	K562	blood:	n/a	n/a
24	SPI1	chr18:43753797-43754133	GM12878	blood:	n/a	n/a
25	CTCF	chr18:43753770-43754054	SK-N-SH_RA	brain:	n/a	chr18:43753886-43753902 chr18:43753888-43753901
26	CTCF	chr18:43753820-43753970	AG04450	lung:	n/a	chr18:43753886-43753902 chr18:43753888-43753901
27	CTCF	chr18:43753780-43753930	HEK293	kidney:	n/a	chr18:43753886-43753902 chr18:43753888-43753901
28	CTCF	chr18:43753296-43754064	GM19238	blood:	n/a	chr18:43753462-43753475 chr18:43753308-43753321 chr18:43753886-43753902 chr18:43753460-43753476 chr18:43753459-43753477 chr18:43753461-43753482 chr18:43753459-43753472 chr18:43753462-43753470 chr18:43753888-43753901
29	THAP1	chr18:43753749-43754381	K562	blood:	n/a	n/a
30	CTCF	chr18:43753760-43753910	WI-38	lung:	n/a	chr18:43753886-43753902 chr18:43753888-43753901
31	CTCF	chr18:43753296-43754053	GM12892	blood:	n/a	chr18:43753462-43753475 chr18:43753308-43753321 chr18:43753886-43753902 chr18:43753460-43753476 chr18:43753459-43753477 chr18:43753461-43753482 chr18:43753459-43753472 chr18:43753462-43753470 chr18:43753888-43753901
32	POLR2A	chr18:43753335-43754977	GM10847	blood:	n/a	n/a
33	MAX	chr18:43753187-43754338	H1-hESC	embryonic stem cell:	n/a	chr18:43753368-43753378
34	CTCF	chr18:43753760-43753910	K562	blood:	n/a	chr18:43753886-43753902 chr18:43753888-43753901
35	RUNX3	chr18:43753290-43754912	GM12878	blood:	n/a	n/a
36	POLR2A	chr18:43753765-43754211	A549	lung:	n/a	n/a
37	CTCF	chr18:43753800-43753950	GM12865	blood:	n/a	chr18:43753886-43753902 chr18:43753888-43753901
38	SIN3AK20	chr18:43753536-43754382	MCF-7	breast:	n/a	n/a
39	BACH1	chr18:43753477-43754204	H1-hESC	embryonic stem cell:	n/a	n/a
40	SP4	chr18:43753162-43754056	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr18:43753195-43755042	K562	blood:	n/a	n/a
42	POLR2A	chr18:43753704-43754275	PANC-1	pancreas:	n/a	n/a
43	TEAD4	chr18:43753796-43754107	K562	blood:	n/a	n/a
44	POLR2A	chr18:43753719-43754186	SK-N-SH	brain:	n/a	n/a
45	GABPA	chr18:43753701-43754748	H1-hESC	embryonic stem cell:	n/a	n/a
46	MEF2C	chr18:43753329-43754251	GM12878	blood:	n/a	n/a
47	SP1	chr18:43753642-43754209	A549	lung:	n/a	n/a
48	CTCF	chr18:43753270-43754107	H1-hESC	embryonic stem cell:	n/a	chr18:43753462-43753475 chr18:43753308-43753321 chr18:43753886-43753902 chr18:43753460-43753476 chr18:43753459-43753477 chr18:43753461-43753482 chr18:43753459-43753472 chr18:43753462-43753470 chr18:43753888-43753901
49	MAFK	chr18:43753327-43754156	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr18:43753288-43754037	GM12891	blood:	n/a	chr18:43753462-43753475 chr18:43753308-43753321 chr18:43753886-43753902 chr18:43753460-43753476 chr18:43753459-43753477 chr18:43753461-43753482 chr18:43753459-43753472 chr18:43753462-43753470 chr18:43753888-43753901

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43751486..43754394-chr18:43913234..43915228,2	MCF-7	breast:
2	chr18:43705752..43708889-chr18:43751231..43755049,3	K562	blood:

Variant related genes	Relation type
C18orf25	TF binding region
ENSG00000141622	Chromatin interaction
ENSG00000152240	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs11082512	0.84[EUR][1000 genomes]
rs11082514	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11082518	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12457740	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12605945	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12607898	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12608232	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12709736	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12962307	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12962951	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12963787	0.85[EUR][1000 genomes]
rs12963943	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12967694	0.84[EUR][1000 genomes]
rs12969147	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13381496	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13381515	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13381523	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13381525	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13381529	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1808946	0.86[EUR][1000 genomes]
rs36191490	0.86[EUR][1000 genomes]
rs3744858	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4335852	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4453594	0.87[EUR][1000 genomes]
rs4453596	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4542747	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4574015	0.86[EUR][1000 genomes]
rs4627465	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4890317	0.92[EUR][1000 genomes]
rs4890319	0.87[EUR][1000 genomes]
rs4890320	0.86[EUR][1000 genomes]
rs4890321	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4890628	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4890629	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4890631	0.86[EUR][1000 genomes]
rs4890632	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4890633	0.86[EUR][1000 genomes]
rs4890634	0.84[EUR][1000 genomes]
rs55747741	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62096523	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62096524	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62096525	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62096526	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62098160	0.82[EUR][1000 genomes]
rs6507670	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6507675	0.80[ASN][1000 genomes]
rs6507676	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6507677	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6507680	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6507681	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6507682	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6507690	0.88[EUR][1000 genomes]
rs6507691	0.86[EUR][1000 genomes]
rs6507692	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6507693	0.87[EUR][1000 genomes]
rs718513	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs718514	0.83[EUR][1000 genomes]
rs7227847	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7228024	0.84[ASN][1000 genomes]
rs7228365	0.88[EUR][1000 genomes]
rs7230154	0.88[EUR][1000 genomes]
rs7230995	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7231430	0.86[EUR][1000 genomes]
rs7231820	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7234695	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7236687	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7239351	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7240354	0.92[ASN][1000 genomes]
rs7241527	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7241829	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7241983	0.80[ASN][1000 genomes]
rs7242375	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7245091	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8084309	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8084827	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8084829	0.85[EUR][1000 genomes]
rs8085138	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8086610	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8086956	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8090542	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8093407	0.86[EUR][1000 genomes]
rs8094070	0.86[EUR][1000 genomes]
rs8094706	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8095142	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8095729	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8095799	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8098751	0.84[EUR][1000 genomes]
rs8099202	0.86[EUR][1000 genomes]
rs9675387	0.86[EUR][1000 genomes]
rs9807157	0.88[EUR][1000 genomes]
rs9944715	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9944767	0.84[EUR][1000 genomes]
rs9944836	0.88[EUR][1000 genomes]
rs9945783	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9947206	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9948282	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9949494	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9951624	0.86[EUR][1000 genomes]
rs9952469	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9952654	0.85[EUR][1000 genomes]
rs9956574	0.88[EUR][1000 genomes]
rs9959813	0.86[EUR][1000 genomes]
rs9959905	0.88[EUR][1000 genomes]
rs9960378	0.88[EUR][1000 genomes]
rs9963153	0.86[EUR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43753000-43754800	Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr18:43753000-43754800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:43753000-43755000	Active TSS	Esophagus	oesophagus
4	chr18:43753000-43755200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:43753000-43755200	Active TSS	Fetal Brain Female	brain
6	chr18:43753000-43755200	Active TSS	Rectal Smooth Muscle	rectum
7	chr18:43753000-43755200	Active TSS	NH-A	brain
8	chr18:43753000-43755400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr18:43753000-43755400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:43753000-43755400	Active TSS	Fetal Intestine Large	intestine
11	chr18:43753000-43755400	Active TSS	HSMM	muscle
12	chr18:43753000-43755600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:43753000-43755600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr18:43753000-43755600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr18:43753000-43755600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr18:43753000-43755600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr18:43753000-43755600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:43753000-43755800	Active TSS	A549	lung
19	chr18:43753200-43754000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:43753200-43754400	Active TSS	HepG2	liver
21	chr18:43753200-43754800	Active TSS	Primary hematopoietic stem cells	blood
22	chr18:43753200-43754800	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr18:43753200-43755000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:43753200-43755000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:43753200-43755000	Active TSS	Pancreas	Pancrea
26	chr18:43753200-43755200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:43753200-43755200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:43753200-43755200	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr18:43753200-43755200	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr18:43753200-43755200	Active TSS	Aorta	Aorta
31	chr18:43753200-43755200	Active TSS	Brain Angular Gyrus	brain
32	chr18:43753200-43755200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr18:43753200-43755200	Active TSS	Colon Smooth Muscle	Colon
34	chr18:43753200-43755200	Active TSS	Fetal Lung	lung
35	chr18:43753200-43755200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr18:43753200-43755400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr18:43753200-43755400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:43753200-43755400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:43753200-43755400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr18:43753200-43755400	Active TSS	Fetal Kidney	kidney
41	chr18:43753200-43755600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr18:43753200-43755600	Active TSS	H1 Cell Line	embryonic stem cell
43	chr18:43753200-43755600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr18:43753200-43755600	Active TSS	Fetal Intestine Small	intestine
45	chr18:43753200-43755600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr18:43753200-43755600	Active TSS	Left Ventricle	heart
47	chr18:43753200-43755600	Active TSS	Ovary	ovary
48	chr18:43753200-43755600	Active TSS	Psoas Muscle	Psoas
49	chr18:43753200-43755600	Active TSS	Right Ventricle	heart
50	chr18:43753200-43755800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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