Variant report

Variant	rs546548263
Chromosome Location	chr4:147557777-147557778
allele	G/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	REST	chr4:147557676-147558699	ECC-1	luminal epithelium:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
2	REST	chr4:147557351-147559218	HL-60	blood:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
3	REST	chr4:147557770-147558778	MCF-7	breast:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
4	REST	chr4:147557740-147558809	ECC-1	luminal epithelium:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
5	MXI1	chr4:147557761-147558576	IMR90	lung:	n/a	n/a
6	REST	chr4:147557742-147558687	H1-neurons	neurons:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:147557774-147557824	A549	lung:	n/a
2	chr4:147557774-147557824	CMK	blood:	n/a
3	chr4:147557774-147557824	SK-N-MC	brain:	n/a
4	chr4:147557774-147557824	NT2-D1	testis:	n/a
5	chr4:147557774-147557824	ovcar-3	ovarian:	n/a
6	chr4:147557774-147557824	SK-N-SH_RA	brain:	n/a
7	chr4:147557774-147557824	AoSMC	blood vessel:	n/a
8	chr4:147557774-147557824	H1-hESC	embryonic stem cell:	embryo
9	chr4:147557774-147557824	HL-60	blood:	n/a
10	chr4:147557774-147557824	ProgFib	skin:	n/a
11	chr4:147557774-147557824	HUVEC	blood vessel:	n/a
12	chr4:147557774-147557824	HepG2	liver:	n/a
13	chr4:147557774-147557824	T-47D	breast:	n/a
14	chr4:147557774-147557824	Hela-S3	cervix:	n/a
15	chr4:147557774-147557824	K562	blood:	n/a
16	chr4:147557774-147557824	SK-N-SH	brain:	n/a
17	chr4:147557774-147557824	NHDF-neo	bronchial:	n/a
18	chr4:147557774-147557824	PANC-1	pancreas:	n/a
19	chr4:147557774-147557824	NH-A	brain:	n/a
20	chr4:147557774-147557824	BE2_C	brain:	n/a
21	chr4:147557774-147557824	IMR90	lung:	fetal
22	chr4:147557774-147557824	AG09309	skin:	n/a
23	chr4:147557774-147557824	HIPEpiC	eye:	n/a
24	chr4:147557774-147557824	HEEpiC	esophagus:	n/a
25	chr4:147557774-147557824	HCM	heart:	n/a
26	chr4:147557774-147557824	GM12878	blood:	n/a
27	chr4:147557774-147557824	SKMC	muscle:	n/a
28	chr4:147557774-147557824	PFSK-1	brain:	n/a
29	chr4:147557774-147557824	U87	brain:	n/a
30	chr4:147557774-147557824	NHBE	bronchial:	n/a
31	chr4:147557774-147557824	AG10803	skin:	n/a
32	chr4:147557774-147557824	HNPCEpiC	eye:	n/a
33	chr4:147557774-147557824	AG04449	skin:	fetal
34	chr4:147557774-147557824	PrEC	prostate:	n/a
35	chr4:147557774-147557824	Caco-2	colon:	n/a
36	chr4:147557774-147557824	BJ	skin:	n/a
37	chr4:147557774-147557824	HPAEpiC	pulmonary alveolar:	n/a
38	chr4:147557774-147557824	HCF	heart:	n/a
39	chr4:147557774-147557824	GM12892	blood:	n/a
40	chr4:147557774-147557824	RPTEC	kidney:	n/a
41	chr4:147557774-147557824	SAEC	small airway:	n/a
42	chr4:147557774-147557824	AG04450	lung:	fetal
43	chr4:147557774-147557824	MCF-7	breast:	n/a
44	chr4:147557774-147557824	MCF10A-Er-Src	breast:	n/a
45	chr4:147557774-147557824	GM12891	blood:	n/a
46	chr4:147557774-147557824	Jurkat	blood:	n/a
47	chr4:147557774-147557824	HCT-116	colon:	n/a
48	chr4:147557774-147557824	LNCaP	prostate:	n/a
49	chr4:147557774-147557824	HEK293	kidney:	embryo
50	chr4:147557774-147557824	GM19239	blood:	n/a

Variant related genes	Relation type
ENSG00000264323	TF binding region
POU4F2	TF binding region
POU4F2	CpG island
ENSG00000264323	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv830107	chr4:147452434-147635720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv880238	chr4:147469559-147617963	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2753640	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv2754145	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv822768	chr4:147556986-147562654	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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