Variant report

Variant	rs9881861
Chromosome Location	chr3:138609585-138609586
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	TEAD4	chr3:138609488-138610407	K562	blood:	n/a	n/a
2	BCL11A	chr3:138609559-138609930	GM12878	blood:	n/a	n/a
3	BATF	chr3:138609568-138609853	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:138609545-138610136	HL-60	blood:	n/a	n/a
5	SPI1	chr3:138609574-138610076	HL-60	blood:	n/a	chr3:138609807-138609820 chr3:138609808-138609821 chr3:138609810-138609819
6	MAX	chr3:138609556-138610459	NB4	blood:	n/a	n/a
7	MAX	chr3:138609536-138609998	K562	blood:	n/a	n/a
8	RUNX3	chr3:138609572-138610020	GM12878	blood:	n/a	n/a
9	NFATC1	chr3:138609503-138610011	GM12878	blood:	n/a	n/a
10	NFATC1	chr3:138609491-138610073	GM12878	blood:	n/a	n/a
11	RUNX3	chr3:138609528-138610080	GM12878	blood:	n/a	n/a
12	NFIC	chr3:138609537-138610003	GM12878	blood:	n/a	n/a
13	MYC	chr3:138609549-138610349	NB4	blood:	n/a	n/a
14	POU2F2	chr3:138609489-138609909	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138553429..138554961-chr3:138609413..138611787,2	K562	blood:

Variant related genes	Relation type
ATP5G1P3	TF binding region
ENSG00000051382	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11706016	0.86[ASN][1000 genomes]
rs11706291	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716946	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12633714	0.86[ASN][1000 genomes]
rs13061496	0.86[ASN][1000 genomes]
rs13072146	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13100110	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28826701	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35514824	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282204	0.86[ASN][1000 genomes]
rs62282207	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439828	0.80[EUR][1000 genomes]
rs6776833	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634571	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812318	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9817734	0.86[EUR][1000 genomes]
rs9818521	0.93[ASN][1000 genomes]
rs9832447	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9850990	0.81[EUR][1000 genomes]
rs9851887	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9870355	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9871842	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882957	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1000927	chr3:138423543-138632596	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9881861	PIK3CB	Cis_1M	lymphoblastoid	RTeQTL
rs9881861	CEP70	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138607000-138611200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:138607200-138609800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:138607400-138610400	Enhancers	K562	blood
4	chr3:138607400-138611000	Enhancers	Primary hematopoietic stem cells	blood
5	chr3:138607400-138611000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:138607400-138611000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:138607600-138611000	Enhancers	Primary B cells from cord blood	blood
8	chr3:138607600-138611000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:138608200-138609600	Weak transcription	GM12878-XiMat	blood
10	chr3:138608400-138609600	Weak transcription	HepG2	liver
11	chr3:138608600-138609800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr3:138608800-138622200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:138609400-138610400	Enhancers	Primary B cells from peripheral blood	blood

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