Variant report

Variant	rs4764327
Chromosome Location	chr12:10364362-10364363
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	GTF3C2	chr12:10364355-10365330	Hela-S3	cervix:	n/a	n/a
2	BHLHE40	chr12:10364219-10365690	HepG2	liver:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364398-10364419
3	USF1	chr12:10364226-10364562	A549	lung:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
4	ATF3	chr12:10364045-10365247	A549	lung:	n/a	chr12:10364404-10364413 chr12:10364393-10364413 chr12:10365025-10365036
5	USF1	chr12:10364202-10364572	K562	blood:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
6	USF1	chr12:10364265-10364514	HepG2	liver:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
7	ZNF263	chr12:10364101-10366834	HEK293-T-REx	kidney:	n/a	chr12:10365038-10365047
8	FOSL2	chr12:10364356-10365658	A549	lung:	n/a	chr12:10364966-10364974 chr12:10365426-10365435 chr12:10364965-10364976 chr12:10365445-10365454 chr12:10365421-10365430
9	BHLHE40	chr12:10364247-10365532	A549	lung:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364398-10364419
10	MAX	chr12:10364300-10364486	HepG2	liver:	n/a	chr12:10364404-10364413
11	BHLHE40	chr12:10364256-10366843	K562	blood:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364398-10364419
12	USF1	chr12:10364183-10364606	A549	lung:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
13	RCOR1	chr12:10364345-10366923	Hela-S3	cervix:	n/a	n/a
14	RPC155	chr12:10364280-10365044	K562	blood:	n/a	n/a
15	USF1	chr12:10364342-10364490	HepG2	liver:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
16	USF1	chr12:10364300-10364447	SK-N-SH_RA	brain:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
17	GATA3	chr12:10364349-10365759	A549	lung:	n/a	chr12:10365168-10365178
18	USF1	chr12:10364233-10364501	H1-hESC	embryonic stem cell:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
19	RPC155	chr12:10364146-10365058	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr12:10363939-10368549	IMR90	lung:	n/a	chr12:10365036-10365046 chr12:10365423-10365433
21	MAX	chr12:10364357-10366799	A549	lung:	n/a	chr12:10366638-10366648 chr12:10365656-10365666 chr12:10364404-10364413
22	USF1	chr12:10364318-10364497	A549	lung:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
23	ATF3	chr12:10364219-10365497	A549	lung:	n/a	chr12:10365445-10365465 chr12:10365446-10365453 chr12:10365440-10365454 chr12:10365442-10365453 chr12:10365446-10365454 chr12:10364404-10364413 chr12:10364393-10364413 chr12:10365443-10365456 chr12:10365025-10365036 chr12:10365446-10365456 chr12:10365444-10365455 chr12:10365442-10365457 chr12:10365443-10365456 chr12:10365434-10365454 chr12:10365422-10365431 chr12:10365444-10365457 chr12:10365445-10365456 chr12:10365445-10365453 chr12:10365446-10365456 chr12:10365427-10365436 chr12:10365443-10365454
24	SP1	chr12:10364353-10365764	HCT-116	colon:	n/a	chr12:10365423-10365437 chr12:10365422-10365432 chr12:10365421-10365433 chr12:10365421-10365433 chr12:10365428-10365437 chr12:10365561-10365570 chr12:10365428-10365437 chr12:10365426-10365438 chr12:10365423-10365432 chr12:10365427-10365436 chr12:10365422-10365431 chr12:10365560-10365569 chr12:10365422-10365432 chr12:10365423-10365432 chr12:10365426-10365438 chr12:10365418-10365432 chr12:10365560-10365569
25	USF2	chr12:10364314-10364514	HepG2	liver:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364398-10364419

No.	Distal block	Cell Line	Cell type
1	chr12:10363710..10369534-chr12:10376619..10381190,6	K562	blood:
2	chr12:10364094..10366158-chr12:10825514..10827785,2	K562	blood:
3	chr12:9913257..9914775-chr12:10363988..10366451,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLR1-5	chr12:10364207-10364719	NONHSAT026871

Variant related genes	Relation type
GABARAPL1	TF binding region
ENSG00000060140	Chromatin interaction
ENSG00000134539	Chromatin interaction
ENSG00000110848	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10845074	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10845075	0.82[ASN][1000 genomes]
rs11053685	0.82[CHB][hapmap]
rs11053686	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12821011	0.82[CHB][hapmap]
rs4764326	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv520713	chr12:10362224-10364362	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv527123	chr12:10364170-10364362	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4764327	ENO2	cis	parietal	SCAN
rs4764327	NOP2	cis	cerebellum	SCAN
rs4764327	LAG3	cis	cerebellum	SCAN
rs4764327	TAS2R46	cis	cerebellum	SCAN
rs4764327	LPCAT3	cis	cerebellum	SCAN
rs4764327	GABARAPL1	cis	multi-tissue	Pritchard
rs4764327	APOLD1	cis	parietal	SCAN
rs4764327	GRIN2B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10358200-10364600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:10358200-10364600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:10358600-10364600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:10358800-10365000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:10358800-10365000	Weak transcription	Hela-S3	cervix
6	chr12:10360200-10364600	Weak transcription	HUVEC	blood vessel
7	chr12:10360600-10364600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:10360800-10364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:10362600-10364800	Enhancers	Placenta	Placenta
10	chr12:10363400-10364600	Enhancers	Fetal Muscle Trunk	muscle
11	chr12:10363800-10364600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:10363800-10364600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:10364000-10367400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:10364200-10364400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:10364200-10364400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:10364200-10364400	Enhancers	A549	lung
17	chr12:10364200-10364600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:10364200-10364600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:10364200-10364600	Enhancers	K562	blood
20	chr12:10364200-10365000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:10364200-10367600	Active TSS	HSMMtube	muscle

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