Variant report

Variant	rs13144019
Chromosome Location	chr4:149294286-149294287
allele	A/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	CEBPB	chr4:149294252-149294625	HepG2	liver:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
2	CEBPB	chr4:149294276-149294596	Hela-S3	cervix:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
3	CEBPB	chr4:149294210-149294669	ECC-1	luminal epithelium:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
4	CEBPB	chr4:149294227-149294626	ECC-1	luminal epithelium:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
5	CEBPB	chr4:149294276-149294604	IMR90	lung:	n/a	chr4:149294437-149294448 chr4:149294439-149294450
6	CEBPB	chr4:149294271-149294598	H1-hESC	embryonic stem cell:	n/a	chr4:149294437-149294448 chr4:149294439-149294450

Variant related genes	Relation type
NR3C2	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11724226	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12711260	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13109808	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13109933	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13112423	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13127625	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13137655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1512325	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1512327	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1512341	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2137331	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6831212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7696770	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs992556	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv880246	chr4:149287807-149311728	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149277000-149296800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:149277000-149306800	Weak transcription	Pancreas	Pancrea
3	chr4:149281200-149300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:149282800-149296800	Weak transcription	Psoas Muscle	Psoas
5	chr4:149283000-149299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:149288400-149297000	Weak transcription	Fetal Heart	heart
7	chr4:149289600-149297000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:149290200-149297200	Weak transcription	Aorta	Aorta
9	chr4:149290400-149296800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:149291200-149296800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:149291400-149297000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:149291400-149297200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:149291600-149296800	Weak transcription	HepG2	liver
14	chr4:149292000-149296600	Weak transcription	HUVEC	blood vessel
15	chr4:149292200-149298600	Weak transcription	Left Ventricle	heart
16	chr4:149292200-149315000	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:149293400-149295400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:149294000-149294800	Enhancers	Right Atrium	heart
19	chr4:149294200-149294600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:149294200-149294800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr4:149294200-149294800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr4:149294200-149295600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr4:149294200-149296800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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