Variant report

Variant	rs328185
Chromosome Location	chr18:44238227-44238228
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	MAZ	chr18:44238224-44238529	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr18:44238070-44238592	HepG2	liver:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
3	CTCF	chr18:44238220-44238370	GM12875	blood:	n/a	chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238277-44238293
4	CTCF	chr18:44238220-44238370	HEK293	kidney:	n/a	chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238277-44238293
5	CTCF	chr18:44238194-44238547	NHEK	skin:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
6	CTCF	chr18:44238188-44238546	MCF-7	breast:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
7	RAD21	chr18:44238071-44238611	ECC-1	luminal epithelium:	n/a	chr18:44238421-44238440 chr18:44238425-44238439 chr18:44238277-44238296 chr18:44238223-44238237
8	CTCF	chr18:44238220-44238370	GM12872	blood:	n/a	chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238277-44238293
9	SP4	chr18:44238177-44238570	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr18:44238220-44238489	K562	blood:	n/a	chr18:44238421-44238440 chr18:44238425-44238439 chr18:44238277-44238296 chr18:44238223-44238237
11	SMC3	chr18:44238118-44238618	Hela-S3	cervix:	n/a	chr18:44238278-44238292 chr18:44238425-44238439
12	RAD21	chr18:44238140-44238613	GM12878	blood:	n/a	chr18:44238421-44238440 chr18:44238425-44238439 chr18:44238277-44238296 chr18:44238223-44238237
13	ZNF143	chr18:44238129-44238556	K562	blood:	n/a	n/a
14	CTCF	chr18:44238210-44238500	SK-N-SH_RA	brain:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
15	CTCF	chr18:44238213-44238530	ECC-1	luminal epithelium:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
16	CTCF	chr18:44238179-44238504	MCF-7	breast:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
17	SP4	chr18:44238130-44238532	H1-hESC	embryonic stem cell:	n/a	n/a
18	HNF4A	chr18:44238110-44238519	HepG2	liver:	n/a	chr18:44238375-44238387 chr18:44238374-44238389 chr18:44238374-44238389 chr18:44238374-44238389 chr18:44238373-44238388
19	RAD21	chr18:44238072-44238637	HepG2	liver:	n/a	chr18:44238421-44238440 chr18:44238425-44238439 chr18:44238277-44238296 chr18:44238223-44238237
20	RAD21	chr18:44238114-44238546	H1-hESC	embryonic stem cell:	n/a	chr18:44238421-44238440 chr18:44238425-44238439 chr18:44238277-44238296 chr18:44238223-44238237
21	SMC3	chr18:44238186-44238604	GM12878	blood:	n/a	chr18:44238278-44238292 chr18:44238425-44238439
22	CTCF	chr18:44238165-44238713	K562	blood:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
23	YY1	chr18:44238130-44238482	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr18:44238058-44238485	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr18:44238200-44238350	MCF-7	breast:	n/a	chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238277-44238293
26	RAD21	chr18:44238162-44238583	A549	lung:	n/a	chr18:44238421-44238440 chr18:44238425-44238439 chr18:44238277-44238296 chr18:44238223-44238237
27	CTCF	chr18:44238171-44238539	A549	lung:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
28	MYC	chr18:44238144-44238457	NB4	blood:	n/a	n/a
29	MAZ	chr18:44238142-44238450	HepG2	liver:	n/a	n/a
30	SMC3	chr18:44238117-44238583	HepG2	liver:	n/a	chr18:44238278-44238292 chr18:44238425-44238439
31	ZNF143	chr18:44238106-44238554	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr18:44237951-44238609	HCT-116	colon:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
33	HNF4A	chr18:44238087-44238583	HepG2	liver:	n/a	chr18:44238375-44238387 chr18:44238374-44238389 chr18:44238374-44238389 chr18:44238374-44238389 chr18:44238373-44238388
34	CTCF	chr18:44238183-44238525	MCF-7	breast:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
35	ZNF143	chr18:44238196-44238610	GM12878	blood:	n/a	n/a
36	CTCF	chr18:44238218-44238574	A549	lung:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
37	YY1	chr18:44238208-44238487	GM12878	blood:	n/a	n/a
38	CTCF	chr18:44238121-44238590	H1-hESC	embryonic stem cell:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
39	CTCF	chr18:44238220-44238370	HFF-Myc	foreskin:	n/a	chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238277-44238293
40	RUNX3	chr18:44238177-44238620	GM12878	blood:	n/a	n/a
41	SMC3	chr18:44238198-44238585	K562	blood:	n/a	chr18:44238278-44238292 chr18:44238425-44238439
42	TAF1	chr18:44238042-44238418	H1-hESC	embryonic stem cell:	n/a	n/a
43	SPI1	chr18:44238174-44238475	HL-60	blood:	n/a	n/a
44	RFX5	chr18:44238175-44238441	HepG2	liver:	n/a	n/a
45	RAD21	chr18:44237989-44238630	IMR90	lung:	n/a	chr18:44238421-44238440 chr18:44238425-44238439 chr18:44238277-44238296 chr18:44238223-44238237
46	CTCF	chr18:44238192-44238571	GM12878	blood:	n/a	chr18:44238425-44238438 chr18:44238279-44238288 chr18:44238276-44238294 chr18:44238423-44238441 chr18:44238278-44238299 chr18:44238279-44238292 chr18:44238424-44238440 chr18:44238425-44238438 chr18:44238277-44238293
47	MAX	chr18:44238007-44238512	NB4	blood:	n/a	chr18:44238105-44238112 chr18:44238100-44238119
48	ARID3A	chr18:44238219-44238551	HepG2	liver:	n/a	n/a
49	RAD21	chr18:44238068-44238624	Hela-S3	cervix:	n/a	chr18:44238421-44238440 chr18:44238425-44238439 chr18:44238277-44238296 chr18:44238223-44238237
50	RCOR1	chr18:44238211-44238501	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:43861250..43861755-chr18:44237903..44238816,2	K562	blood:
2	chr18:44202977..44203585-chr18:44237863..44238863,2	MCF-7	breast:
3	chr18:44233210..44235377-chr18:44237809..44240707,2	K562	blood:
4	chr18:43861183..43862185-chr18:44237910..44238891,3	MCF-7	breast:
5	chr18:44135472..44136540-chr18:44237677..44238574,5	MCF-7	breast:
6	chr18:44135421..44136286-chr18:44237959..44238787,2	K562	blood:

Variant related genes	Relation type
LOXHD1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs328184	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs435202	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv15009	chr18:44222960-44263857	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv515609	chr18:44223365-44263237	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1056493	chr18:44224972-44259409	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1064019	chr18:44224972-44263237	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1065369	chr18:44224972-44263913	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1058904	chr18:44224972-44264578	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1060496	chr18:44229485-44263237	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44237600-44238400	Enhancers	Fetal Muscle Trunk	muscle
2	chr18:44237800-44238400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr18:44238000-44238400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr18:44238000-44238400	Enhancers	Dnd41	blood
5	chr18:44238000-44238400	Enhancers	HepG2	liver
6	chr18:44238000-44240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:44238200-44238400	Enhancers	Fetal Brain Male	brain
8	chr18:44238200-44238400	Bivalent Enhancer	Placenta	Placenta
9	chr18:44238200-44238400	Bivalent Enhancer	Fetal Stomach	stomach
10	chr18:44238200-44241000	Weak transcription	H1 Cell Line	embryonic stem cell

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