Variant report

Variant	rs72919280
Chromosome Location	chr18:44557661-44557662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr18:44556837-44557680	HepG2	liver:	n/a	n/a
2	RXRA	chr18:44557167-44557778	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44557647-44557697	GM12892	blood:	n/a
2	chr18:44557647-44557697	K562	blood:	n/a
3	chr18:44557647-44557697	HPAEpiC	pulmonary alveolar:	n/a
4	chr18:44557635-44557685	HUVEC	blood vessel:	n/a
5	chr18:44557635-44557685	HMEC	breast:	n/a
6	chr18:44557647-44557697	HCM	heart:	n/a
7	chr18:44557635-44557685	Caco-2	colon:	n/a
8	chr18:44557635-44557685	SAEC	small airway:	n/a
9	chr18:44557647-44557697	Hepatocyte	liver:	n/a
10	chr18:44557635-44557685	PrEC	prostate:	n/a
11	chr18:44557647-44557697	T-47D	breast:	n/a
12	chr18:44557647-44557697	HMEC	breast:	n/a
13	chr18:44557647-44557697	Caco-2	colon:	n/a
14	chr18:44557647-44557697	AG04450	lung:	fetal
15	chr18:44557647-44557697	IMR90	lung:	fetal
16	chr18:44557635-44557685	AG09309	skin:	n/a
17	chr18:44557635-44557685	MCF-7	breast:	n/a
18	chr18:44557635-44557685	NT2-D1	testis:	n/a
19	chr18:44557635-44557685	HEEpiC	esophagus:	n/a
20	chr18:44557647-44557697	GM12878	blood:	n/a
21	chr18:44557647-44557697	HepG2	liver:	n/a
22	chr18:44557635-44557685	AG10803	skin:	n/a
23	chr18:44557647-44557697	H1-hESC	embryonic stem cell:	embryo
24	chr18:44557635-44557685	HRE	kidney:	n/a
25	chr18:44557647-44557697	NHDF-neo	bronchial:	n/a
26	chr18:44557635-44557685	HEK293	kidney:	embryo
27	chr18:44557647-44557697	ECC-1	luminal epithelium:	n/a
28	chr18:44557635-44557685	U87	brain:	n/a
29	chr18:44557635-44557685	Hepatocyte	liver:	n/a
30	chr18:44557635-44557685	AoSMC	blood vessel:	n/a
31	chr18:44557635-44557685	Jurkat	blood:	n/a
32	chr18:44557647-44557697	HEEpiC	esophagus:	n/a
33	chr18:44557647-44557697	AoSMC	blood vessel:	n/a
34	chr18:44557647-44557697	HIPEpiC	eye:	n/a
35	chr18:44557647-44557697	Hela-S3	cervix:	n/a
36	chr18:44557647-44557697	HRPEpiC	eye:	n/a
37	chr18:44557647-44557697	MCF10A-Er-Src	breast:	n/a
38	chr18:44557635-44557685	GM12878	blood:	n/a
39	chr18:44557647-44557697	AG10803	skin:	n/a
40	chr18:44557647-44557697	NH-A	brain:	n/a
41	chr18:44557635-44557685	HepG2	liver:	n/a
42	chr18:44557635-44557685	AG04450	lung:	fetal
43	chr18:44557647-44557697	SKMC	muscle:	n/a
44	chr18:44557647-44557697	HCPEpiC	choroid plexus:	n/a
45	chr18:44557647-44557697	HCT-116	colon:	n/a
46	chr18:44557647-44557697	SK-N-MC	brain:	n/a
47	chr18:44557647-44557697	HCF	heart:	n/a
48	chr18:44557635-44557685	SK-N-SH	brain:	n/a
49	chr18:44557635-44557685	HCM	heart:	n/a
50	chr18:44557635-44557685	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
TCEB3C	TF binding region
TCEB3C	CpG island

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs11872472	0.83[AMR][1000 genomes]
rs11874267	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11874423	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11874582	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11874634	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11875703	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11876274	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11877331	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11877373	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11877650	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11877721	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11877929	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17472	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1962181	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4084161	0.83[AMR][1000 genomes]
rs4341835	0.83[AMR][1000 genomes]
rs4341836	0.83[AMR][1000 genomes]
rs4640275	0.81[EUR][1000 genomes]
rs55664322	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55693830	0.83[AMR][1000 genomes]
rs55710513	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55756567	0.83[AMR][1000 genomes]
rs55779584	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55781503	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55819334	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55938990	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56064494	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56095591	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56123148	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56164202	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56188847	0.89[EUR][1000 genomes]
rs56217029	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56250012	0.83[AMR][1000 genomes]
rs56279708	0.88[AMR][1000 genomes]
rs56298133	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56303451	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56352844	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56414010	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61738602	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61746775	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7230266	0.83[AMR][1000 genomes]
rs7234512	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7236403	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7238877	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7240843	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7240909	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7241858	0.89[EUR][1000 genomes]
rs7241877	0.83[AMR][1000 genomes]
rs7242313	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7242451	0.83[AMR][1000 genomes]
rs7242768	0.83[AMR][1000 genomes]
rs7243015	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7243309	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72905224	0.83[AMR][1000 genomes]
rs72905246	0.83[AMR][1000 genomes]
rs72905276	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72907105	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72907112	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72907128	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72907132	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72907142	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72907143	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72907164	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72907177	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72907199	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72909109	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72909190	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72909191	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72911104	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72911106	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72913060	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72913070	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72913076	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72913080	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72913091	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72913096	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72913098	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72915060	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72915074	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72915093	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72915096	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72917159	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72917161	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72917165	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72917176	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72919285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72919292	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7506367	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8088346	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8089367	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8092148	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8094449	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1056744	chr18:44509052-44581752	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv960276	chr18:44540582-44558292	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
5	esv3330558	chr18:44540954-44558652	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
6	esv3330771	chr18:44540954-44558652	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
7	esv3400776	chr18:44540954-44558652	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
8	esv3335518	chr18:44541054-44558652	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
9	esv3358350	chr18:44541054-44558652	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
10	esv3444563	chr18:44541054-44558652	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
11	esv14271	chr18:44541908-44557900	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
12	esv1813539	chr18:44542384-44558702	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
13	esv1805582	chr18:44542384-44577288	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv1830773	chr18:44542584-44558502	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	nsv514871	chr18:44546006-44562254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
16	nsv2282	chr18:44547638-44590333	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	nsv909610	chr18:44549455-44602249	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44553200-44562600	Weak transcription	Right Ventricle	heart
2	chr18:44555400-44560000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:44555400-44560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:44555400-44561400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:44555400-44563200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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