Variant report

Variant	rs543345467
Chromosome Location	chr3:138739813-138739814
allele	C/G
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	CTCF	chr3:138739740-138739890	HCT-116	colon:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
2	CTCF	chr3:138739801-138739967	Fibrobl	skin:	n/a	chr3:138739945-138739958 chr3:138739943-138739959 chr3:138739844-138739862 chr3:138739944-138739965 chr3:138739942-138739960 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
3	CTCF	chr3:138739800-138739950	WERI-Rb-1	eye:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
4	POLR2A	chr3:138739759-138739839	MCF-7	breast:	n/a	n/a
5	CBX3	chr3:138739694-138739983	K562	blood:	n/a	n/a
6	CBX3	chr3:138739722-138739997	K562	blood:	n/a	n/a
7	CTCF	chr3:138739807-138739946	MCF-7	breast:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
8	RAD21	chr3:138739736-138740038	H1-hESC	embryonic stem cell:	n/a	chr3:138739844-138739856 chr3:138739842-138739861 chr3:138739943-138739962 chr3:138739846-138739856
9	CTCF	chr3:138739797-138739955	GM12891	blood:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
10	CTCF	chr3:138739747-138740111	HepG2	liver:	n/a	chr3:138739945-138739958 chr3:138739943-138739959 chr3:138739844-138739862 chr3:138739944-138739965 chr3:138739942-138739960 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
11	CTCFL	chr3:138739786-138739877	K562	blood:	n/a	chr3:138739846-138739855
12	RAD21	chr3:138739779-138740087	HepG2	liver:	n/a	chr3:138739844-138739856 chr3:138739842-138739861 chr3:138739943-138739962 chr3:138739846-138739856
13	CTCF	chr3:138739803-138739988	Gliobla	brain:	n/a	chr3:138739945-138739958 chr3:138739943-138739959 chr3:138739844-138739862 chr3:138739944-138739965 chr3:138739942-138739960 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
14	CTCF	chr3:138739740-138739890	GM12870	blood:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
15	CTCF	chr3:138739780-138739930	GM12865	blood:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
16	CTCF	chr3:138739780-138739930	GM12875	blood:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
17	CTCF	chr3:138739800-138739950	HEK293	kidney:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
18	CTCF	chr3:138739800-138739950	WI-38	lung:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
19	CTCF	chr3:138739805-138739950	GM19238	blood:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
20	CTCF	chr3:138739804-138740087	K562	blood:	n/a	chr3:138739945-138739958 chr3:138739943-138739959 chr3:138739844-138739862 chr3:138739944-138739965 chr3:138739942-138739960 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
21	CTCF	chr3:138739800-138739950	AoAF	blood vessel:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
22	CTCF	chr3:138739760-138740117	H1-hESC	embryonic stem cell:	n/a	chr3:138739945-138739958 chr3:138739943-138739959 chr3:138739844-138739862 chr3:138739944-138739965 chr3:138739942-138739960 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
23	CTCF	chr3:138739804-138740038	K562	blood:	n/a	chr3:138739945-138739958 chr3:138739943-138739959 chr3:138739844-138739862 chr3:138739944-138739965 chr3:138739942-138739960 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
24	CTCF	chr3:138739745-138740021	K562	blood:	n/a	chr3:138739945-138739958 chr3:138739943-138739959 chr3:138739844-138739862 chr3:138739944-138739965 chr3:138739942-138739960 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
25	CTCF	chr3:138739808-138740059	H1-hESC	embryonic stem cell:	n/a	chr3:138739945-138739958 chr3:138739943-138739959 chr3:138739844-138739862 chr3:138739944-138739965 chr3:138739942-138739960 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
26	CTCF	chr3:138739768-138739942	MCF-7	breast:	n/a	chr3:138739844-138739862 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
27	CTCF	chr3:138739803-138739973	H1-hESC	embryonic stem cell:	n/a	chr3:138739945-138739958 chr3:138739943-138739959 chr3:138739844-138739862 chr3:138739944-138739965 chr3:138739942-138739960 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859
28	POLR2A	chr3:138739798-138739837	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:138739748-138739965	MCF-7	breast:	n/a	chr3:138739945-138739958 chr3:138739943-138739959 chr3:138739844-138739862 chr3:138739944-138739965 chr3:138739942-138739960 chr3:138739850-138739859 chr3:138739847-138739857 chr3:138739845-138739861 chr3:138739846-138739859

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138739807-138739857	HRCEpiC	kidney:	n/a
2	chr3:138739807-138739857	PANC-1	pancreas:	n/a
3	chr3:138739807-138739857	HPAEpiC	pulmonary alveolar:	n/a
4	chr3:138739807-138739857	NB4	blood:	n/a
5	chr3:138739807-138739857	Jurkat	blood:	n/a
6	chr3:138739807-138739857	PrEC	prostate:	n/a
7	chr3:138739807-138739857	SK-N-MC	brain:	n/a
8	chr3:138739807-138739857	HIPEpiC	eye:	n/a
9	chr3:138739807-138739857	K562	blood:	n/a
10	chr3:138739807-138739857	SKMC	muscle:	n/a
11	chr3:138739807-138739857	SK-N-SH_RA	brain:	n/a
12	chr3:138739807-138739857	Hela-S3	cervix:	n/a
13	chr3:138739807-138739857	U87	brain:	n/a
14	chr3:138739807-138739857	HUVEC	blood vessel:	n/a
15	chr3:138739807-138739857	IMR90	lung:	fetal
16	chr3:138739807-138739857	GM06990	blood:	n/a
17	chr3:138739807-138739857	BE2_C	brain:	n/a
18	chr3:138739807-138739857	Caco-2	colon:	n/a
19	chr3:138739807-138739857	SK-N-SH	brain:	n/a
20	chr3:138739807-138739857	GM19239	blood:	n/a
21	chr3:138739807-138739857	HRE	kidney:	n/a
22	chr3:138739807-138739857	NHDF-neo	bronchial:	n/a
23	chr3:138739807-138739857	MCF-7	breast:	n/a
24	chr3:138739807-138739857	BJ	skin:	n/a
25	chr3:138739807-138739857	GM12892	blood:	n/a
26	chr3:138739807-138739857	HL-60	blood:	n/a
27	chr3:138739807-138739857	GM12878	blood:	n/a
28	chr3:138739807-138739857	AG10803	skin:	n/a
29	chr3:138739807-138739857	AG09309	skin:	n/a
30	chr3:138739807-138739857	SAEC	small airway:	n/a
31	chr3:138739807-138739857	HAEpiC	amniotic membrane:	n/a
32	chr3:138739807-138739857	H1-hESC	embryonic stem cell:	embryo
33	chr3:138739807-138739857	HEEpiC	esophagus:	n/a
34	chr3:138739807-138739857	Hepatocyte	liver:	n/a
35	chr3:138739807-138739857	PFSK-1	brain:	n/a
36	chr3:138739807-138739857	HCPEpiC	choroid plexus:	n/a
37	chr3:138739807-138739857	LNCaP	prostate:	n/a
38	chr3:138739807-138739857	NT2-D1	testis:	n/a
39	chr3:138739807-138739857	A549	lung:	n/a
40	chr3:138739807-138739857	HNPCEpiC	eye:	n/a
41	chr3:138739807-138739857	MCF10A-Er-Src	breast:	n/a
42	chr3:138739807-138739857	HCT-116	colon:	n/a
43	chr3:138739807-138739857	HCM	heart:	n/a
44	chr3:138739807-138739857	AG09319	gingival:	n/a
45	chr3:138739807-138739857	AG04450	lung:	fetal
46	chr3:138739807-138739857	AG04449	skin:	fetal
47	chr3:138739807-138739857	HRPEpiC	eye:	n/a
48	chr3:138739807-138739857	NHBE	bronchial:	n/a
49	chr3:138739807-138739857	ProgFib	skin:	n/a
50	chr3:138739807-138739857	ECC-1	luminal epithelium:	n/a

Variant related genes	Relation type
PRR23B	TF binding region
PRR23B	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv591855	chr3:138720204-138742147	ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3349122	chr3:138739730-138763779	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

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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