Variant report

Variant	rs73409587
Chromosome Location	chr18:11857634-11857635
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	GABPA	chr18:11857349-11857838	A549	lung:	n/a	n/a
2	SP1	chr18:11856884-11857970	A549	lung:	n/a	chr18:11857575-11857589
3	ATF3	chr18:11857204-11857859	A549	lung:	n/a	n/a
4	USF1	chr18:11857175-11857996	HCT-116	colon:	n/a	chr18:11857420-11857441
5	JUND	chr18:11857129-11857906	A549	lung:	n/a	chr18:11857625-11857636
6	NR3C1	chr18:11856977-11857910	A549	lung:	n/a	chr18:11857109-11857125
7	MAX	chr18:11857013-11857985	ECC-1	luminal epithelium:	n/a	chr18:11857779-11857790 chr18:11857779-11857790
8	FOSL1	chr18:11857003-11858057	HCT-116	colon:	n/a	n/a
9	SP1	chr18:11856988-11858038	HCT-116	colon:	n/a	chr18:11857575-11857589
10	TEAD4	chr18:11857052-11857923	ECC-1	luminal epithelium:	n/a	n/a
11	EP300	chr18:11857093-11857661	HepG2	liver:	n/a	chr18:11857095-11857109 chr18:11857370-11857377 chr18:11857291-11857298
12	MAFF	chr18:11857106-11857900	HepG2	liver:	n/a	chr18:11857281-11857299
13	ATF3	chr18:11857061-11857860	A549	lung:	n/a	n/a
14	MAX	chr18:11857239-11857889	H1-hESC	embryonic stem cell:	n/a	chr18:11857779-11857790 chr18:11857779-11857790
15	JUND	chr18:11857195-11857865	K562	blood:	n/a	chr18:11857625-11857636
16	POLR2A	chr18:11857099-11860426	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr18:11857029-11857902	Hela-S3	cervix:	n/a	n/a
18	MYC	chr18:11857609-11857681	Hela-S3	cervix:	n/a	n/a
19	JUND	chr18:11857106-11857933	A549	lung:	n/a	chr18:11857625-11857636
20	MAFF	chr18:11857103-11857813	K562	blood:	n/a	chr18:11857281-11857299
21	POLR2A	chr18:11857619-11857821	A549	lung:	n/a	n/a
22	TCF7L2	chr18:11857140-11857791	HCT-116	colon:	n/a	chr18:11857346-11857353
23	MYC	chr18:11857303-11857848	K562	blood:	n/a	chr18:11857779-11857790 chr18:11857779-11857790
24	MYC	chr18:11857576-11857738	MCF-7	breast:	n/a	n/a
25	TCF7L2	chr18:11857070-11857885	Hela-S3	cervix:	n/a	chr18:11857346-11857353
26	BACH1	chr18:11857025-11857968	H1-hESC	embryonic stem cell:	n/a	chr18:11857896-11857910
27	STAT3	chr18:11857147-11857835	MCF10A-Er-Src	breast:	n/a	n/a
28	MAFK	chr18:11857097-11857876	K562	blood:	n/a	chr18:11857288-11857298
29	HNF4A	chr18:11857111-11857657	HepG2	liver:	n/a	chr18:11857497-11857512 chr18:11857499-11857511 chr18:11857497-11857512 chr18:11857497-11857512 chr18:11857498-11857511 chr18:11857498-11857506 chr18:11857499-11857511 chr18:11857497-11857512
30	MYBL2	chr18:11857065-11857804	HepG2	liver:	n/a	n/a
31	GATA3	chr18:11857050-11857970	A549	lung:	n/a	n/a
32	SIN3AK20	chr18:11857403-11857769	PFSK-1	brain:	n/a	n/a
33	HNF4A	chr18:11857187-11857640	HepG2	liver:	n/a	chr18:11857497-11857512 chr18:11857499-11857511 chr18:11857497-11857512 chr18:11857497-11857512 chr18:11857498-11857511 chr18:11857498-11857506 chr18:11857499-11857511 chr18:11857497-11857512
34	HDAC2	chr18:11857331-11857794	HepG2	liver:	n/a	chr18:11857352-11857366
35	CREB1	chr18:11857168-11857981	ECC-1	luminal epithelium:	n/a	n/a
36	HNF4G	chr18:11857156-11857701	HepG2	liver:	n/a	chr18:11857499-11857511 chr18:11857497-11857512 chr18:11857497-11857512 chr18:11857498-11857511 chr18:11857498-11857506 chr18:11857499-11857511 chr18:11857497-11857512
37	MXI1	chr18:11857015-11858286	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr18:11857141-11857822	H1-hESC	embryonic stem cell:	n/a	n/a
39	SRF	chr18:11857053-11858043	HCT-116	colon:	n/a	n/a
40	TEAD4	chr18:11857049-11857746	K562	blood:	n/a	n/a
41	TCF12	chr18:11857111-11857786	A549	lung:	n/a	chr18:11857167-11857176
42	USF1	chr18:11857233-11857855	HepG2	liver:	n/a	chr18:11857420-11857441
43	JUN	chr18:11857339-11857770	K562	blood:	n/a	n/a
44	MXI1	chr18:11857110-11857884	HepG2	liver:	n/a	n/a
45	POLR2A	chr18:11857145-11857642	HepG2	liver:	n/a	n/a
46	HDAC2	chr18:11857419-11857817	K562	blood:	n/a	n/a
47	POLR2A	chr18:11857204-11857879	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr18:11857419-11857686	Gliobla	brain:	n/a	n/a
49	USF2	chr18:11857261-11857775	HepG2	liver:	n/a	chr18:11857420-11857441
50	SP1	chr18:11856978-11858002	A549	lung:	n/a	chr18:11857575-11857589

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11848600..11852886-chr18:11853629..11859008,5	K562	blood:

Variant related genes	Relation type
ENSG00000267165	TF binding region
ENSG00000272703	TF binding region
ENSG00000267165	Chromatin interaction
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1249628	0.95[ASN][1000 genomes]
rs16976742	0.95[ASN][1000 genomes]
rs16976749	1.00[ASN][1000 genomes]
rs3885902	1.00[ASN][1000 genomes]
rs4371220	0.91[ASN][1000 genomes]
rs5018698	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018699	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018701	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018702	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018703	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018704	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61462499	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62097389	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs715688	1.00[ASN][1000 genomes]
rs7228231	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241172	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241199	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241336	0.91[ASN][1000 genomes]
rs73409590	1.00[ASN][1000 genomes]
rs73944918	0.95[ASN][1000 genomes]
rs73944920	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11852400-11860000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:11852400-11880800	Weak transcription	Aorta	Aorta
3	chr18:11853400-11859200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:11853600-11859200	Weak transcription	Right Ventricle	heart
5	chr18:11853600-11859600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:11853600-11883800	Weak transcription	Ovary	ovary
7	chr18:11853800-11861000	Weak transcription	Fetal Lung	lung
8	chr18:11853800-11884200	Weak transcription	Brain Substantia Nigra	brain
9	chr18:11854000-11861600	Weak transcription	Spleen	Spleen
10	chr18:11854000-11875000	Weak transcription	Brain Hippocampus Middle	brain
11	chr18:11854000-11884200	Weak transcription	Brain Angular Gyrus	brain
12	chr18:11854200-11868200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr18:11854400-11868400	Weak transcription	Primary B cells from cord blood	blood
14	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
15	chr18:11855200-11857800	Strong transcription	Brain Germinal Matrix	brain
16	chr18:11855200-11857800	Weak transcription	Thymus	Thymus
17	chr18:11855400-11858200	Enhancers	Fetal Intestine Large	intestine
18	chr18:11855400-11860200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr18:11855400-11875400	Weak transcription	Fetal Stomach	stomach
20	chr18:11855600-11858600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr18:11855600-11859000	Weak transcription	Primary T cells from cord blood	blood
22	chr18:11855600-11880800	Weak transcription	Fetal Brain Female	brain
23	chr18:11855800-11858200	Enhancers	Stomach Mucosa	stomach
24	chr18:11856000-11857800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:11856200-11857800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:11856200-11857800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:11856200-11857800	Enhancers	Colonic Mucosa	Colon
28	chr18:11856200-11857800	Enhancers	Fetal Intestine Small	intestine
29	chr18:11856200-11857800	Enhancers	Lung	lung
30	chr18:11856200-11858400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr18:11856400-11857800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:11856400-11858800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr18:11856600-11859200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr18:11856600-11859200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr18:11856600-11861600	Weak transcription	Gastric	stomach
36	chr18:11856600-11865000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr18:11856800-11857800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:11856800-11857800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:11856800-11858600	Active TSS	A549	lung
40	chr18:11857000-11857800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr18:11857000-11857800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr18:11857000-11857800	Flanking Active TSS	NHDF-Ad	bronchial
43	chr18:11857000-11858000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:11857000-11858000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:11857000-11858000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:11857000-11858000	Flanking Active TSS	HepG2	liver
47	chr18:11857000-11858400	Flanking Active TSS	NHEK	skin
48	chr18:11857000-11859400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr18:11857000-11860800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr18:11857200-11857800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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