Variant report

Variant	rs12989087
Chromosome Location	chr2:148598219-148598220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:148598195-148598337	SH-SY5Y	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:148592266..148594426-chr2:148597102..148599777,3	K562	blood:
2	chr2:148493331..148496160-chr2:148597744..148600087,2	MCF-7	breast:
3	chr2:148567023..148572962-chr2:148595870..148600342,5	MCF-7	breast:
4	chr2:148594776..148598351-chr2:148600056..148602491,3	K562	blood:
5	chr2:148594776..148599311-chr2:148600451..148604588,8	K562	blood:
6	chr2:148589254..148592247-chr2:148597949..148601498,4	K562	blood:

No data

Variant related genes	Relation type
ACVR2A	TF binding region
ENSG00000121989	Chromatin interaction
ENSG00000229143	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10180655	0.93[ASN][1000 genomes]
rs10803523	0.81[AFR][1000 genomes]
rs11686483	0.94[ASN][1000 genomes]
rs11889608	0.81[AFR][1000 genomes]
rs12105745	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1227304	0.86[ASN][1000 genomes]
rs12464617	0.81[AFR][1000 genomes]
rs12622150	0.91[ASN][1000 genomes]
rs13000597	0.81[AFR][1000 genomes]
rs13004451	0.82[AFR][1000 genomes]
rs13016893	0.85[ASN][1000 genomes]
rs13021972	0.90[AFR][1000 genomes]
rs13025219	0.81[AFR][1000 genomes]
rs13028411	0.81[AFR][1000 genomes]
rs13430086	0.90[ASN][1000 genomes]
rs1424944	0.81[AFR][1000 genomes]
rs1424954	0.81[AFR][1000 genomes]
rs1895693	0.81[AFR][1000 genomes]
rs1895694	0.96[ASN][1000 genomes]
rs2113792	0.91[ASN][1000 genomes]
rs2113794	0.97[ASN][1000 genomes]
rs2194695	0.97[ASN][1000 genomes]
rs2603597	0.85[ASN][1000 genomes]
rs2603600	0.86[ASN][1000 genomes]
rs2627019	0.85[ASN][1000 genomes]
rs2627025	0.84[ASN][1000 genomes]
rs3768684	0.86[ASN][1000 genomes]
rs3768686	0.91[ASN][1000 genomes]
rs3768688	0.94[ASN][1000 genomes]
rs3820716	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4419186	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55816333	1.00[ASN][1000 genomes]
rs56073268	1.00[ASN][1000 genomes]
rs6713811	0.96[ASN][1000 genomes]
rs6731371	0.86[ASN][1000 genomes]
rs755365	0.85[EUR][1000 genomes]
rs7566230	1.00[ASN][1000 genomes]
rs7582403	0.97[ASN][1000 genomes]
rs7593570	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9287411	0.97[ASN][1000 genomes]
rs929939	0.81[AFR][1000 genomes]

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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12989087	ORC4L	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148595800-148600600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:148597000-148599800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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