Variant report

Variant	rs555537247
Chromosome Location	chr18:44564450-44564451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44564432-44564482	HCPEpiC	choroid plexus:	n/a
2	chr18:44564432-44564482	ECC-1	luminal epithelium:	n/a
3	chr18:44564432-44564482	MCF10A-Er-Src	breast:	n/a
4	chr18:44564432-44564482	GM19239	blood:	n/a
5	chr18:44564432-44564482	NHDF-neo	bronchial:	n/a
6	chr18:44564432-44564482	H1-hESC	embryonic stem cell:	embryo
7	chr18:44564432-44564482	AG04449	skin:	fetal
8	chr18:44564432-44564482	HNPCEpiC	eye:	n/a
9	chr18:44564432-44564482	CMK	blood:	n/a
10	chr18:44564432-44564482	NH-A	brain:	n/a
11	chr18:44564432-44564482	PrEC	prostate:	n/a
12	chr18:44564432-44564482	AG04450	lung:	fetal
13	chr18:44564432-44564482	HAEpiC	amniotic membrane:	n/a
14	chr18:44564432-44564482	HIPEpiC	eye:	n/a
15	chr18:44564432-44564482	T-47D	breast:	n/a
16	chr18:44564432-44564482	Hepatocyte	liver:	n/a
17	chr18:44564432-44564482	A549	lung:	n/a
18	chr18:44564432-44564482	HepG2	liver:	n/a
19	chr18:44564432-44564482	SK-N-SH_RA	brain:	n/a
20	chr18:44564432-44564482	ovcar-3	ovarian:	n/a
21	chr18:44564432-44564482	BJ	skin:	n/a
22	chr18:44564432-44564482	Caco-2	colon:	n/a
23	chr18:44564432-44564482	SKMC	muscle:	n/a
24	chr18:44564432-44564482	HL-60	blood:	n/a
25	chr18:44564432-44564482	HMEC	breast:	n/a
26	chr18:44564432-44564482	NB4	blood:	n/a
27	chr18:44564432-44564482	PFSK-1	brain:	n/a
28	chr18:44564432-44564482	GM12892	blood:	n/a
29	chr18:44564432-44564482	PANC-1	pancreas:	n/a
30	chr18:44564432-44564482	HPAEpiC	pulmonary alveolar:	n/a
31	chr18:44564432-44564482	BE2_C	brain:	n/a
32	chr18:44564432-44564482	MCF-7	breast:	n/a
33	chr18:44564432-44564482	HUVEC	blood vessel:	n/a
34	chr18:44564432-44564482	LNCaP	prostate:	n/a
35	chr18:44564432-44564482	ProgFib	skin:	n/a
36	chr18:44564432-44564482	K562	blood:	n/a
37	chr18:44564432-44564482	AG10803	skin:	n/a
38	chr18:44564432-44564482	HRCEpiC	kidney:	n/a
39	chr18:44564432-44564482	IMR90	lung:	fetal
40	chr18:44564432-44564482	HCT-116	colon:	n/a
41	chr18:44564432-44564482	RPTEC	kidney:	n/a
42	chr18:44564432-44564482	AoSMC	blood vessel:	n/a
43	chr18:44564432-44564482	NHBE	bronchial:	n/a
44	chr18:44564432-44564482	HEEpiC	esophagus:	n/a
45	chr18:44564432-44564482	HRPEpiC	eye:	n/a
46	chr18:44564432-44564482	Hela-S3	cervix:	n/a
47	chr18:44564432-44564482	HCF	heart:	n/a
48	chr18:44564432-44564482	HEK293	kidney:	embryo
49	chr18:44564432-44564482	NT2-D1	testis:	n/a
50	chr18:44564432-44564482	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
TCEB3B	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	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
11	nsv1057235	chr18:44564162-44595809	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1067278	chr18:44564162-44629283	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44564000-44564600	Enhancers	GM12878-XiMat	blood

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