Variant report

Variant	rs9788266
Chromosome Location	chr12:21572359-21572360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:21572122-21572618	K562	blood:	n/a	n/a
2	POLR2A	chr12:21572051-21572679	K562	blood:	n/a	n/a
3	POLR2A	chr12:21572082-21572725	K562	blood:	n/a	n/a
4	YY1	chr12:21571974-21572594	K562	blood:	n/a	n/a
5	YY1	chr12:21572016-21572729	K562	blood:	n/a	n/a
6	YY1	chr12:21572079-21572662	NT2-D1	testis:	n/a	n/a
7	POLR2A	chr12:21572253-21572697	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr12:21572330-21572629	K562	blood:	n/a	n/a
9	YY1	chr12:21571948-21572659	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr12:21572115-21572529	K562	blood:	n/a	n/a
11	POLR2A	chr12:21572335-21572606	K562	blood:	n/a	n/a
12	HEY1	chr12:21572253-21572640	K562	blood:	n/a	n/a
13	POLR2A	chr12:21572013-21572617	K562	blood:	n/a	n/a
14	TAF1	chr12:21572343-21572615	K562	blood:	n/a	n/a
15	TBP	chr12:21571961-21572654	K562	blood:	n/a	n/a
16	HEY1	chr12:21572336-21572685	K562	blood:	n/a	n/a
17	TAF1	chr12:21572251-21572645	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr12:21572024-21572733	K562	blood:	n/a	n/a
19	FOXA2	chr12:21572291-21572840	A549	lung:	n/a	n/a
20	TAF1	chr12:21572320-21572630	K562	blood:	n/a	n/a
21	FOXA1	chr12:21572353-21572721	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21572311-21572361	NB4	blood:	n/a
2	chr12:21572311-21572361	Jurkat	blood:	n/a
3	chr12:21572311-21572361	AG09319	gingival:	n/a
4	chr12:21572311-21572361	A549	lung:	n/a
5	chr12:21572311-21572361	PANC-1	pancreas:	n/a
6	chr12:21572311-21572361	SAEC	small airway:	n/a
7	chr12:21572311-21572361	HCM	heart:	n/a
8	chr12:21572311-21572361	ECC-1	luminal epithelium:	n/a
9	chr12:21572311-21572361	PFSK-1	brain:	n/a
10	chr12:21572311-21572361	SKMC	muscle:	n/a
11	chr12:21572311-21572361	HRE	kidney:	n/a
12	chr12:21572311-21572361	PrEC	prostate:	n/a
13	chr12:21572311-21572361	SK-N-SH	brain:	n/a
14	chr12:21572311-21572361	AG10803	skin:	n/a
15	chr12:21572311-21572361	HEK293	kidney:	embryo
16	chr12:21572311-21572361	Hepatocyte	liver:	n/a
17	chr12:21572311-21572361	NT2-D1	testis:	n/a
18	chr12:21572311-21572361	HEEpiC	esophagus:	n/a
19	chr12:21572311-21572361	HUVEC	blood vessel:	n/a
20	chr12:21572311-21572361	GM12892	blood:	n/a
21	chr12:21572311-21572361	NHDF-neo	bronchial:	n/a
22	chr12:21572311-21572361	MCF10A-Er-Src	breast:	n/a
23	chr12:21572311-21572361	HRCEpiC	kidney:	n/a
24	chr12:21572311-21572361	T-47D	breast:	n/a
25	chr12:21572311-21572361	GM12878	blood:	n/a
26	chr12:21572311-21572361	NH-A	brain:	n/a
27	chr12:21572311-21572361	NHBE	bronchial:	n/a
28	chr12:21572311-21572361	U87	brain:	n/a
29	chr12:21572311-21572361	K562	blood:	n/a
30	chr12:21572311-21572361	AG09309	skin:	n/a
31	chr12:21572311-21572361	ovcar-3	ovarian:	n/a
32	chr12:21572311-21572361	HRPEpiC	eye:	n/a
33	chr12:21572311-21572361	HCF	heart:	n/a
34	chr12:21572311-21572361	MCF-7	breast:	n/a
35	chr12:21572311-21572361	ProgFib	skin:	n/a
36	chr12:21572311-21572361	CMK	blood:	n/a
37	chr12:21572311-21572361	HL-60	blood:	n/a
38	chr12:21572311-21572361	AoSMC	blood vessel:	n/a
39	chr12:21572311-21572361	HMEC	breast:	n/a
40	chr12:21572311-21572361	HNPCEpiC	eye:	n/a
41	chr12:21572311-21572361	AG04450	lung:	fetal
42	chr12:21572311-21572361	RPTEC	kidney:	n/a
43	chr12:21572311-21572361	SK-N-SH_RA	brain:	n/a
44	chr12:21572311-21572361	AG04449	skin:	fetal
45	chr12:21572311-21572361	GM19239	blood:	n/a
46	chr12:21572311-21572361	H1-hESC	embryonic stem cell:	embryo
47	chr12:21572311-21572361	GM06990	blood:	n/a
48	chr12:21572311-21572361	LNCaP	prostate:	n/a
49	chr12:21572311-21572361	HIPEpiC	eye:	n/a
50	chr12:21572311-21572361	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
SLCO1A2	TF binding region
SLCO1A2	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11046040	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12423173	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12423536	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12424852	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12426100	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12426103	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12817513	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2110164	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36142627	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9788265	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519603	chr12:21526472-21584709	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv898894	chr12:21545532-21583242	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv526789	chr12:21555691-21590788	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9788266	PYROXD1	Cis_1M	lymphoblastoid	RTeQTL
rs9788266	RECQL	Cis_1M	lymphoblastoid	RTeQTL
rs9788266	LOC642732///PYROXD1	Cis_1M	lymphoblastoid	RTeQTL
rs9788266	LOC642732	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21570800-21572600	Active TSS	K562	blood
2	chr12:21571600-21572600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:21572000-21572400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:21572000-21572600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr12:21572000-21572600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr12:21572000-21572600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr12:21572000-21572600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:21572200-21572600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:21572200-21572600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:21572200-21572600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr12:21572200-21572600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr12:21572200-21572600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:21572200-21572600	Active TSS	Placenta	Placenta

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