Variant report

Variant	rs512535
Chromosome Location	chr2:21267782-21267783
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	GATA2	chr2:21267517-21268047	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:21267670-21268195	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:21267627-21268023	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:21267610-21267957	HUVEC	blood vessel:	n/a	n/a
5	MYBL2	chr2:21255028-21268201	HepG2	liver:	n/a	n/a
6	FOS	chr2:21267464-21268019	HUVEC	blood vessel:	n/a	chr2:21267487-21267495
7	MAX	chr2:21264733-21268238	HepG2	liver:	n/a	chr2:21266697-21266707
8	HEY1	chr2:21267515-21268381	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:21224065-21268658	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	0.86[ASW][hapmap];0.89[CEU][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs547186	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588245	0.93[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs589566	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661665	0.81[AMR][1000 genomes];0.91[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
rs512535	ATAD2B	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21265200-21268400	Enhancers	Spleen	Spleen
2	chr2:21266000-21268400	Enhancers	Lung	lung
3	chr2:21266400-21267800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
4	chr2:21266800-21270200	Weak transcription	Ovary	ovary
5	chr2:21267000-21267800	Weak transcription	Left Ventricle	heart
6	chr2:21267000-21268000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:21267000-21268400	Enhancers	Adipose Nuclei	Adipose
8	chr2:21267000-21270000	Weak transcription	Gastric	stomach
9	chr2:21267200-21268200	Flanking Active TSS	HepG2	liver
10	chr2:21267200-21268400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr2:21267200-21268400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:21267200-21268600	Flanking Active TSS	Liver	Liver
13	chr2:21267400-21267800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr2:21267400-21268000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
15	chr2:21267400-21268000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr2:21267400-21268000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr2:21267400-21268200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr2:21267400-21268200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:21267400-21268200	Enhancers	HUVEC	blood vessel
20	chr2:21267400-21268400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr2:21267400-21268400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:21267400-21271200	Enhancers	Fetal Intestine Small	intestine
23	chr2:21267600-21268000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr2:21267600-21268000	Enhancers	Placenta	Placenta
25	chr2:21267600-21271200	Enhancers	Fetal Intestine Large	intestine

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