Variant report

Variant	rs61743594
Chromosome Location	chr18:44561177-44561178
allele	A/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	ELF1	chr18:44560905-44561196	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44561130-44561180	HUVEC	blood vessel:	n/a
2	chr18:44561130-44561180	Caco-2	colon:	n/a
3	chr18:44561130-44561180	HL-60	blood:	n/a
4	chr18:44561130-44561180	HRCEpiC	kidney:	n/a
5	chr18:44561130-44561180	Hela-S3	cervix:	n/a
6	chr18:44561130-44561180	HIPEpiC	eye:	n/a
7	chr18:44561130-44561180	HNPCEpiC	eye:	n/a
8	chr18:44561130-44561180	Hepatocyte	liver:	n/a
9	chr18:44561130-44561180	ECC-1	luminal epithelium:	n/a
10	chr18:44561130-44561180	NHDF-neo	bronchial:	n/a
11	chr18:44561130-44561180	HAEpiC	amniotic membrane:	n/a
12	chr18:44561130-44561180	HMEC	breast:	n/a
13	chr18:44561130-44561180	HepG2	liver:	n/a
14	chr18:44561130-44561180	NH-A	brain:	n/a
15	chr18:44561130-44561180	RPTEC	kidney:	n/a
16	chr18:44561130-44561180	NT2-D1	testis:	n/a
17	chr18:44561130-44561180	HEK293	kidney:	embryo
18	chr18:44561130-44561180	MCF10A-Er-Src	breast:	n/a
19	chr18:44561130-44561180	GM06990	blood:	n/a
20	chr18:44561130-44561180	ProgFib	skin:	n/a
21	chr18:44561130-44561180	GM12891	blood:	n/a
22	chr18:44561130-44561180	AG04449	skin:	fetal
23	chr18:44561130-44561180	GM12878	blood:	n/a
24	chr18:44561130-44561180	GM12892	blood:	n/a
25	chr18:44561130-44561180	U87	brain:	n/a
26	chr18:44561130-44561180	AG10803	skin:	n/a
27	chr18:44561130-44561180	PFSK-1	brain:	n/a
28	chr18:44561130-44561180	HCF	heart:	n/a
29	chr18:44561130-44561180	CMK	blood:	n/a
30	chr18:44561130-44561180	A549	lung:	n/a
31	chr18:44561130-44561180	HCT-116	colon:	n/a
32	chr18:44561130-44561180	AG09309	skin:	n/a
33	chr18:44561130-44561180	NB4	blood:	n/a
34	chr18:44561130-44561180	BJ	skin:	n/a
35	chr18:44561130-44561180	HCM	heart:	n/a
36	chr18:44561130-44561180	H1-hESC	embryonic stem cell:	embryo
37	chr18:44561130-44561180	AG09319	gingival:	n/a
38	chr18:44561130-44561180	BE2_C	brain:	n/a
39	chr18:44561130-44561180	PANC-1	pancreas:	n/a
40	chr18:44561130-44561180	PrEC	prostate:	n/a
41	chr18:44561130-44561180	IMR90	lung:	fetal
42	chr18:44561130-44561180	SK-N-SH	brain:	n/a
43	chr18:44561130-44561180	HEEpiC	esophagus:	n/a
44	chr18:44561130-44561180	NHBE	bronchial:	n/a
45	chr18:44561130-44561180	MCF-7	breast:	n/a
46	chr18:44561130-44561180	AoSMC	blood vessel:	n/a
47	chr18:44561130-44561180	HCPEpiC	choroid plexus:	n/a
48	chr18:44561130-44561180	AG04450	lung:	fetal
49	chr18:44561130-44561180	SKMC	muscle:	n/a
50	chr18:44561130-44561180	SK-N-MC	brain:	n/a

No data

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

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs55633240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55650860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55682632	1.00[AFR][1000 genomes]
rs55754830	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55840418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55877804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55916944	1.00[AFR][1000 genomes]
rs55929919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56003577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56009869	1.00[AFR][1000 genomes]
rs56010507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56050035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56101223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56109213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56119924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56132373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56138442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56142565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56148866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56163470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56169983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56236054	1.00[AFR][1000 genomes]
rs56272937	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56297904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56299848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61743415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903234	0.94[EUR][1000 genomes]
rs72903239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903245	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903247	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903352	1.00[AFR][1000 genomes]
rs72903388	1.00[AFR][1000 genomes]
rs72903391	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72905218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905296	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72905301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72905460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907111	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907120	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907125	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907137	1.00[AFR][1000 genomes]
rs72907140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72909200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72913049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913075	1.00[EUR][1000 genomes]
rs72913087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913164	1.00[AFR][1000 genomes]
rs72913166	1.00[AFR][1000 genomes]
rs72913186	1.00[AFR][1000 genomes]
rs72913187	1.00[AFR][1000 genomes]
rs72914811	1.00[AFR][1000 genomes]
rs72915064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919221	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919241	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72921303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72921305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72921319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
6	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
7	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
8	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
9	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
10	nsv533570	chr18:44560400-44561897	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
11	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
12	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44553200-44562600	Weak transcription	Right Ventricle	heart
2	chr18:44555400-44561400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:44555400-44563200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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