Variant report

Variant	rs55664322
Chromosome Location	chr18:44562434-44562435
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr18:44562235-44562910	Hela-S3	cervix:	n/a	chr18:44562439-44562450 chr18:44562457-44562468

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44562416-44562466	ProgFib	skin:	n/a
2	chr18:44562416-44562466	HCT-116	colon:	n/a
3	chr18:44562416-44562466	RPTEC	kidney:	n/a
4	chr18:44562416-44562466	AG04449	skin:	fetal
5	chr18:44562416-44562466	AG09319	gingival:	n/a
6	chr18:44562416-44562466	NHBE	bronchial:	n/a
7	chr18:44562416-44562466	IMR90	lung:	fetal
8	chr18:44562416-44562466	HCF	heart:	n/a
9	chr18:44562416-44562466	HPAEpiC	pulmonary alveolar:	n/a
10	chr18:44562416-44562466	NT2-D1	testis:	n/a
11	chr18:44562416-44562466	PANC-1	pancreas:	n/a
12	chr18:44562416-44562466	SKMC	muscle:	n/a
13	chr18:44562416-44562466	HUVEC	blood vessel:	n/a
14	chr18:44562416-44562466	LNCaP	prostate:	n/a
15	chr18:44562416-44562466	GM12878	blood:	n/a
16	chr18:44562416-44562466	Jurkat	blood:	n/a
17	chr18:44562416-44562466	SK-N-MC	brain:	n/a
18	chr18:44562416-44562466	HRE	kidney:	n/a
19	chr18:44562416-44562466	MCF10A-Er-Src	breast:	n/a
20	chr18:44562416-44562466	T-47D	breast:	n/a
21	chr18:44562416-44562466	HCPEpiC	choroid plexus:	n/a
22	chr18:44562416-44562466	ECC-1	luminal epithelium:	n/a
23	chr18:44562416-44562466	HCM	heart:	n/a
24	chr18:44562416-44562466	GM19239	blood:	n/a
25	chr18:44562416-44562466	NB4	blood:	n/a
26	chr18:44562416-44562466	PFSK-1	brain:	n/a
27	chr18:44562416-44562466	HRPEpiC	eye:	n/a
28	chr18:44562416-44562466	GM12892	blood:	n/a
29	chr18:44562416-44562466	BJ	skin:	n/a
30	chr18:44562416-44562466	SAEC	small airway:	n/a
31	chr18:44562416-44562466	U87	brain:	n/a
32	chr18:44562416-44562466	H1-hESC	embryonic stem cell:	embryo
33	chr18:44562416-44562466	SK-N-SH_RA	brain:	n/a
34	chr18:44562416-44562466	BE2_C	brain:	n/a
35	chr18:44562416-44562466	CMK	blood:	n/a
36	chr18:44562416-44562466	NHDF-neo	bronchial:	n/a
37	chr18:44562416-44562466	Hepatocyte	liver:	n/a
38	chr18:44562416-44562466	HRCEpiC	kidney:	n/a
39	chr18:44562416-44562466	GM06990	blood:	n/a
40	chr18:44562416-44562466	Caco-2	colon:	n/a
41	chr18:44562416-44562466	A549	lung:	n/a
42	chr18:44562416-44562466	AG04450	lung:	fetal
43	chr18:44562416-44562466	HL-60	blood:	n/a
44	chr18:44562416-44562466	AoSMC	blood vessel:	n/a
45	chr18:44562416-44562466	PrEC	prostate:	n/a
46	chr18:44562416-44562466	ovcar-3	ovarian:	n/a
47	chr18:44562416-44562466	MCF-7	breast:	n/a
48	chr18:44562416-44562466	Hela-S3	cervix:	n/a
49	chr18:44562416-44562466	HMEC	breast:	n/a
50	chr18:44562416-44562466	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
TCEB3B	TF binding region
TCEB3B	CpG island

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs11872317	0.83[AFR][1000 genomes]
rs11872472	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11873793	0.91[AFR][1000 genomes]
rs11874218	0.91[AFR][1000 genomes]
rs11874267	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11874423	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11874582	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11874634	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11875527	0.91[AFR][1000 genomes]
rs11875703	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11876274	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11877331	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11877373	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11877650	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877721	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11877929	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11878135	0.91[AFR][1000 genomes]
rs17472	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1962181	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35539161	0.81[EUR][1000 genomes]
rs4084161	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4341835	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4341836	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4640275	0.82[EUR][1000 genomes]
rs55693830	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55710513	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55752024	0.91[AFR][1000 genomes]
rs55756567	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55779584	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55781503	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55819334	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877804	0.83[ASN][1000 genomes]
rs55916944	0.83[ASN][1000 genomes]
rs55938990	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56030315	0.91[AFR][1000 genomes]
rs56064494	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56095591	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56109213	0.83[ASN][1000 genomes]
rs56123148	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56164202	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56188847	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56217029	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56250012	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56272937	0.83[ASN][1000 genomes]
rs56279708	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56298133	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56299848	0.83[ASN][1000 genomes]
rs56303451	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56352844	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56400973	0.91[AFR][1000 genomes]
rs56414010	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61738602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743415	0.83[ASN][1000 genomes]
rs61746775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230266	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7234512	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7236403	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7238877	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7240843	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7240909	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241858	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7241877	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7242313	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7242451	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7242768	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7243015	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243309	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72903234	0.83[ASN][1000 genomes]
rs72903239	0.83[ASN][1000 genomes]
rs72905224	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72905246	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72905274	0.91[AFR][1000 genomes]
rs72905276	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72905289	0.91[AFR][1000 genomes]
rs72905292	0.91[AFR][1000 genomes]
rs72907105	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72907112	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72907118	0.91[AFR][1000 genomes]
rs72907128	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72907130	0.91[AFR][1000 genomes]
rs72907132	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72907134	0.91[AFR][1000 genomes]
rs72907142	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72907143	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72907164	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72907177	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72907196	0.91[AFR][1000 genomes]
rs72907199	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72909109	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72909190	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72909191	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72909195	0.91[AFR][1000 genomes]
rs72911104	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72911106	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72911111	0.91[AFR][1000 genomes]
rs72911118	0.91[AFR][1000 genomes]
rs72913060	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72913070	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72913076	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72913080	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72913091	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72913096	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72913098	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72915060	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72915074	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72915084	0.91[AFR][1000 genomes]
rs72915093	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72915096	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917116	0.83[ASN][1000 genomes]
rs72917151	0.83[AFR][1000 genomes]
rs72917159	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917161	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917165	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917167	0.83[ASN][1000 genomes]
rs72917176	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917200	0.83[ASN][1000 genomes]
rs72919213	0.91[AFR][1000 genomes]
rs72919218	0.83[ASN][1000 genomes]
rs72919221	0.83[ASN][1000 genomes]
rs72919226	0.83[ASN][1000 genomes]
rs72919229	0.83[ASN][1000 genomes]
rs72919238	0.83[ASN][1000 genomes]
rs72919241	0.83[ASN][1000 genomes]
rs72919260	0.83[ASN][1000 genomes]
rs72919265	0.83[ASN][1000 genomes]
rs72919278	0.83[ASN][1000 genomes]
rs72919280	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72919285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919289	0.83[ASN][1000 genomes]
rs72919290	0.83[ASN][1000 genomes]
rs72919292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921303	0.83[ASN][1000 genomes]
rs72921305	0.83[ASN][1000 genomes]
rs7506367	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8088346	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8089367	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8092148	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8094449	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
5	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
6	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
7	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
8	nsv917076	chr18:44558149-44568902	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv909611	chr18:44560875-44614090	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44553200-44562600	Weak transcription	Right Ventricle	heart
2	chr18:44555400-44563200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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