Variant report

Variant	rs957304
Chromosome Location	chr19:45057443-45057444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr19:45056911-45057455	K562	blood:	n/a	n/a
2	TAL1	chr19:45056856-45057476	K562	blood:	n/a	n/a
3	STAT3	chr19:45056655-45057443	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFF	chr19:45057101-45057454	K562	blood:	n/a	n/a
5	NR2F2	chr19:45056645-45057506	K562	blood:	n/a	n/a
6	CEBPD	chr19:45056683-45057478	K562	blood:	n/a	n/a
7	CEBPB	chr19:45057000-45057707	K562	blood:	n/a	n/a
8	FOS	chr19:45056640-45057444	MCF10A-Er-Src	breast:	n/a	n/a
9	HDAC2	chr19:45057034-45057451	K562	blood:	n/a	n/a
10	EP300	chr19:45056741-45057451	K562	blood:	n/a	n/a
11	CEBPD	chr19:45056900-45057486	K562	blood:	n/a	n/a
12	TEAD4	chr19:45056694-45057452	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45002962..45004781-chr19:45055516..45058194,2	K562	blood:
2	chr19:45055613..45057790-chr19:45168454..45170638,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1348182	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1727753	0.99[ASN][1000 genomes]
rs1727755	0.95[ASN][1000 genomes]
rs1727756	0.97[ASN][1000 genomes]
rs1727757	0.98[ASN][1000 genomes]
rs1727759	0.99[ASN][1000 genomes]
rs1727760	0.82[EUR][1000 genomes]
rs6509165	0.99[ASN][1000 genomes]
rs7254730	0.89[ASN][1000 genomes]
rs7258420	0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45055600-45058200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:45056400-45057600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:45056600-45057600	Flanking Active TSS	K562	blood
4	chr19:45056600-45057600	Flanking Active TSS	NHEK	skin
5	chr19:45056800-45057800	Enhancers	A549	lung
6	chr19:45056800-45058200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:45057000-45057600	Enhancers	Fetal Thymus	thymus
8	chr19:45057200-45058400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:45057400-45058200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:45057400-45058400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:45057400-45058400	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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