Variant report

Variant	rs13123677
Chromosome Location	chr4:152854780-152854781
allele	C/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	CTCF	chr4:152854747-152854803	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr4:152854640-152854790	GM06990	blood:	n/a	n/a
3	CTCF	chr4:152854780-152854930	BE2_C	brain:	n/a	n/a
4	CTCF	chr4:152854732-152854832	GM13977	blood:	n/a	n/a
5	CTCF	chr4:152854761-152854897	GM19239	blood:	n/a	n/a
6	CTCF	chr4:152854640-152854790	HMF	breast:	n/a	n/a
7	CTCF	chr4:152854660-152854810	NB4	blood:	n/a	n/a
8	CTCF	chr4:152854640-152854790	HEK293	kidney:	n/a	n/a
9	CTCF	chr4:152854640-152854790	WERI-Rb-1	eye:	n/a	n/a
10	RAD21	chr4:152854332-152854935	H1-hESC	embryonic stem cell:	n/a	chr4:152854555-152854565
11	CTCF	chr4:152854683-152854907	GM19238	blood:	n/a	n/a
12	CTCF	chr4:152854740-152854890	GM12873	blood:	n/a	n/a
13	RAD21	chr4:152854460-152854840	HepG2	liver:	n/a	chr4:152854555-152854565
14	CTCF	chr4:152854739-152854858	GM12878	blood:	n/a	n/a
15	CTCF	chr4:152854640-152854790	GM12873	blood:	n/a	n/a
16	CTCF	chr4:152854700-152854850	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr4:152854700-152854891	GM12892	blood:	n/a	n/a
18	CTCF	chr4:152854685-152854907	GM19240	blood:	n/a	n/a
19	CTCF	chr4:152854746-152854849	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr4:152854780-152854930	RPTEC	kidney:	n/a	n/a
21	CTCF	chr4:152854476-152854843	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr4:152854509-152854903	K562	blood:	n/a	n/a
23	RAD21	chr4:152854434-152854982	H1-hESC	embryonic stem cell:	n/a	chr4:152854555-152854565
24	CTCF	chr4:152854680-152854830	BE2_C	brain:	n/a	n/a
25	CTCF	chr4:152854749-152854863	A549	lung:	n/a	n/a
26	CTCF	chr4:152854746-152854890	NHEK	skin:	n/a	n/a
27	CTCF	chr4:152854689-152854877	K562	blood:	n/a	n/a
28	CTCF	chr4:152854746-152854865	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr4:152854647-152854834	HepG2	liver:	n/a	n/a
30	RAD21	chr4:152854412-152854929	H1-hESC	embryonic stem cell:	n/a	chr4:152854555-152854565
31	CTCF	chr4:152854754-152854831	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000249818	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11099834	0.84[AFR][1000 genomes]
rs11731150	0.87[AFR][1000 genomes]
rs12645594	0.92[AFR][1000 genomes]
rs13105209	0.83[AFR][1000 genomes]
rs34321268	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360940	0.87[ASN][1000 genomes]
rs55807675	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1030328	chr4:152791533-152875666	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1028836	chr4:152791680-152879097	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152853800-152855000	Enhancers	Fetal Heart	heart
2	chr4:152854200-152855000	Enhancers	Fetal Thymus	thymus
3	chr4:152854400-152855200	Enhancers	Left Ventricle	heart
4	chr4:152854400-152859000	Weak transcription	Thymus	Thymus

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