Variant report

Variant	rs7233044
Chromosome Location	chr18:9474760-9474761
allele	C/T
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	TEAD4	chr18:9474446-9475881	K562	blood:	n/a	n/a
2	POLR2A	chr18:9474722-9476003	H1-neurons	neurons:	n/a	n/a
3	TEAD4	chr18:9474476-9475882	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr18:9474467-9476144	ECC-1	luminal epithelium:	n/a	n/a
5	TEAD4	chr18:9474700-9475279	K562	blood:	n/a	n/a
6	MXI1	chr18:9474420-9476815	IMR90	lung:	n/a	n/a
7	POLR2A	chr18:9474715-9475363	A549	lung:	n/a	n/a
8	POLR2A	chr18:9474622-9475751	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr18:9474404-9476654	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr18:9474405-9476216	HUVEC	blood vessel:	n/a	n/a
11	TAF1	chr18:9474703-9475938	Hela-S3	cervix:	n/a	n/a
12	MAX	chr18:9474552-9476055	ECC-1	luminal epithelium:	n/a	n/a
13	CHD2	chr18:9474318-9476133	GM12878	blood:	n/a	chr18:9475475-9475485
14	POLR2A	chr18:9474554-9475867	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr18:9474211-9476167	K562	blood:	n/a	n/a
16	E2F6	chr18:9474504-9476041	H1-hESC	embryonic stem cell:	n/a	chr18:9474970-9474980 chr18:9474832-9474841 chr18:9475753-9475764 chr18:9475759-9475768 chr18:9475295-9475304 chr18:9475214-9475223 chr18:9475754-9475766 chr18:9475491-9475500 chr18:9476023-9476033
17	EP300	chr18:9474507-9475898	ECC-1	luminal epithelium:	n/a	chr18:9475759-9475768
18	RFX5	chr18:9474749-9475829	Hela-S3	cervix:	n/a	chr18:9474820-9474828
19	TAL1	chr18:9474718-9475727	K562	blood:	n/a	n/a
20	POLR2A	chr18:9474526-9476143	HepG2	liver:	n/a	n/a
21	POLR2A	chr18:9474710-9475997	A549	lung:	n/a	n/a
22	POLR2A	chr18:9474705-9476452	GM12878	blood:	n/a	n/a
23	MAX	chr18:9474737-9476038	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr18:9474696-9475377	SK-N-SH_RA	brain:	n/a	n/a
25	ZBTB7A	chr18:9474673-9476226	K562	blood:	n/a	chr18:9475294-9475303
26	MYC	chr18:9474755-9476487	K562	blood:	n/a	n/a
27	HEY1	chr18:9474500-9476094	K562	blood:	n/a	chr18:9475763-9475778 chr18:9474965-9474980
28	STAT1	chr18:9474721-9475803	GM12878	blood:	n/a	n/a
29	POLR2A	chr18:9474693-9475915	IMR90	lung:	n/a	n/a
30	CTBP2	chr18:9474236-9476037	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr18:9474657-9476109	U87	brain:	n/a	n/a
32	POLR2A	chr18:9474233-9476139	K562	blood:	n/a	n/a
33	POLR2A	chr18:9474685-9475900	HUVEC	blood vessel:	n/a	n/a
34	CHD2	chr18:9474589-9475975	K562	blood:	n/a	chr18:9475475-9475485
35	MXI1	chr18:9473591-9476846	SK-N-SH	brain:	n/a	n/a
36	PML	chr18:9474535-9475360	K562	blood:	n/a	n/a
37	NFIC	chr18:9474729-9475326	HepG2	liver:	n/a	n/a
38	SRF	chr18:9474679-9475692	ECC-1	luminal epithelium:	n/a	n/a
39	MTA3	chr18:9474706-9475335	GM12878	blood:	n/a	n/a
40	CEBPB	chr18:9474730-9475210	H1-hESC	embryonic stem cell:	n/a	n/a
41	ELF1	chr18:9474736-9476261	GM12878	blood:	n/a	chr18:9475470-9475482 chr18:9474824-9474836
42	GTF2F1	chr18:9474679-9475697	K562	blood:	n/a	n/a
43	CTCF	chr18:9474680-9474830	GM12873	blood:	n/a	n/a
44	POLR2A	chr18:9474629-9476106	A549	lung:	n/a	n/a
45	HCFC1	chr18:9474333-9476749	Hela-S3	cervix:	n/a	n/a
46	MAX	chr18:9474717-9475279	A549	lung:	n/a	n/a
47	TCF7L2	chr18:9474746-9476052	Hela-S3	cervix:	n/a	n/a
48	UBTF	chr18:9474687-9476122	K562	blood:	n/a	n/a
49	SMARCB1	chr18:9474108-9476347	Hela-S3	cervix:	n/a	n/a
50	REST	chr18:9474743-9475511	SK-N-SH	brain:	n/a	chr18:9474824-9474837

No.	Distal block	Cell Line	Cell type
1	chr18:9333428..9336571-chr18:9474335..9476989,6	MCF-7	breast:
2	chr18:9474439..9475367-chr5:180672929..180673983,3	Hela-S3	cervix:
3	chr1:149857548..149858376-chr18:9474738..9475411,2	Hela-S3	cervix:
4	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:
5	chr18:9334546..9336965-chr18:9474025..9476757,3	K562	blood:

Variant related genes	Relation type
RALBP1	TF binding region
ENSG00000273335	TF binding region
ENSG00000264964	Chromatin interaction
ENSG00000233937	Chromatin interaction
ENSG00000128791	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1049553	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11081480	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs167897	0.83[EUR][1000 genomes]
rs2120318	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs329016	0.85[EUR][1000 genomes]
rs384178	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs389066	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs426897	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs449932	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57315808	0.94[EUR][1000 genomes]
rs59365153	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60376740	0.94[EUR][1000 genomes]
rs6506672	0.95[EUR][1000 genomes]
rs6506673	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7232950	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7235898	0.87[ASN][1000 genomes]
rs7242756	0.91[EUR][1000 genomes]
rs72936444	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9474000-9474800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr18:9474000-9474800	ZNF genes & repeats	Lung	lung
3	chr18:9474000-9475000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr18:9474000-9476400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr18:9474000-9476400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr18:9474000-9477000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr18:9474000-9477000	Active TSS	Right Ventricle	heart
8	chr18:9474200-9474800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:9474200-9474800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:9474200-9474800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:9474200-9474800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr18:9474200-9474800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:9474200-9474800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:9474200-9474800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:9474200-9474800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr18:9474200-9474800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr18:9474200-9474800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr18:9474200-9474800	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr18:9474200-9474800	Flanking Active TSS	Fetal Brain Female	brain
20	chr18:9474200-9474800	Flanking Active TSS	Fetal Heart	heart
21	chr18:9474200-9474800	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr18:9474200-9474800	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr18:9474200-9474800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr18:9474200-9474800	Flanking Active TSS	Fetal Stomach	stomach
25	chr18:9474200-9474800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr18:9474200-9474800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr18:9474200-9474800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr18:9474200-9474800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr18:9474200-9474800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr18:9474200-9474800	Flanking Active TSS	Hela-S3	cervix
31	chr18:9474200-9474800	Flanking Active TSS	HMEC	breast
32	chr18:9474200-9474800	Flanking Active TSS	HSMM	muscle
33	chr18:9474200-9474800	Flanking Active TSS	HSMMtube	muscle
34	chr18:9474200-9474800	Flanking Active TSS	K562	blood
35	chr18:9474200-9474800	Flanking Active TSS	NH-A	brain
36	chr18:9474200-9474800	Flanking Active TSS	NHEK	skin
37	chr18:9474200-9474800	Flanking Active TSS	NHLF	lung
38	chr18:9474200-9474800	Flanking Active TSS	Osteobl	bone
39	chr18:9474200-9475000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr18:9474200-9475000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:9474200-9475000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr18:9474200-9475000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:9474200-9475000	Flanking Active TSS	Liver	Liver
44	chr18:9474200-9475000	Flanking Active TSS	Dnd41	blood
45	chr18:9474200-9476400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr18:9474200-9476400	Active TSS	Brain Anterior Caudate	brain
47	chr18:9474200-9476600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr18:9474200-9476600	Active TSS	Rectal Smooth Muscle	rectum
49	chr18:9474200-9476800	Active TSS	H9 Cell Line	embryonic stem cell
50	chr18:9474200-9476800	Active TSS	HUES48 Cell Line	embryonic stem cell

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