Variant report

Variant	rs589566
Chromosome Location	chr2:21269809-21269810
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	MXI1	chr2:21269344-21271468	SK-N-SH	brain:	n/a	chr2:21270708-21270723 chr2:21269624-21269633
2	STAT3	chr2:21269644-21269844	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA2	chr2:21269662-21270666	HepG2	liver:	n/a	n/a
4	FOXA1	chr2:21269802-21270487	HepG2	liver:	n/a	chr2:21270137-21270152
5	MAFK	chr2:21269778-21270362	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
APOB	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1713223	0.93[EUR][1000 genomes]
rs512535	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs547186	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588245	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs661665	0.88[EUR][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs589566	APOB	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21266800-21270200	Weak transcription	Ovary	ovary
2	chr2:21267000-21270000	Weak transcription	Gastric	stomach
3	chr2:21267400-21271200	Enhancers	Fetal Intestine Small	intestine
4	chr2:21267600-21271200	Enhancers	Fetal Intestine Large	intestine
5	chr2:21268200-21270000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:21268200-21270000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:21268200-21270000	Enhancers	HepG2	liver
8	chr2:21268400-21270000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:21268400-21270200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:21268400-21270200	Weak transcription	Spleen	Spleen
11	chr2:21269200-21270400	Enhancers	Lung	lung
12	chr2:21269200-21270800	Enhancers	Fetal Brain Male	brain
13	chr2:21269400-21270600	Bivalent Enhancer	Fetal Lung	lung
14	chr2:21269400-21271000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:21269400-21271000	Enhancers	Fetal Brain Female	brain
16	chr2:21269600-21270000	Flanking Active TSS	Liver	Liver
17	chr2:21269600-21271000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:21269600-21271000	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:21269600-21271200	Enhancers	Brain Germinal Matrix	brain
20	chr2:21269800-21270400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:21269800-21270600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:21269800-21271000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:21269800-21271200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:21269800-21271200	Enhancers	HUES64 Cell Line	embryonic stem cell

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