Variant report

Variant	rs693074
Chromosome Location	chr12:121077728-121077729
allele	G/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	CTCF	chr12:121077432-121078631	A549	lung:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
2	TEAD4	chr12:121077650-121078209	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr12:121077586-121078574	H1-hESC	embryonic stem cell:	n/a	chr12:121078305-121078318
4	CTCF	chr12:121077660-121077810	A549	lung:	n/a	n/a
5	RAD21	chr12:121077604-121077804	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr12:121077666-121079638	H1-hESC	embryonic stem cell:	n/a	chr12:121078405-121078418 chr12:121079275-121079288
7	ZNF263	chr12:121077610-121079764	HEK293-T-REx	kidney:	n/a	chr12:121079219-121079228 chr12:121079301-121079310
8	CTBP2	chr12:121077632-121078448	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
2	chr12:121019025..121020943-chr12:121076838..121078875,3	K562	blood:
3	chr12:121071082..121074482-chr12:121074766..121077938,3	K562	blood:

Variant related genes	Relation type
CABP1	TF binding region
ENSG00000167272	Chromatin interaction
ENSG00000157782	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1151874	0.90[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs11831355	0.82[ASN][1000 genomes]
rs1616213	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686556	0.84[TSI][hapmap]
rs2859264	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2859265	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2859267	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs503667	0.80[CEU][hapmap];0.84[TSI][hapmap]
rs508699	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553328	0.81[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56182086	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7299238	0.83[CHB][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap]
rs73405665	0.82[EUR][1000 genomes]
rs7955217	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3346909	chr12:121077394-121079942	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3334570	chr12:121077719-121079967	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs693074	TAOK3	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121076600-121078000	Weak transcription	Pancreas	Pancrea
2	chr12:121077400-121077800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:121077400-121078200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121077600-121077800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
5	chr12:121077600-121077800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:121077600-121077800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
7	chr12:121077600-121077800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr12:121077600-121077800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
9	chr12:121077600-121077800	Enhancers	Primary B cells from cord blood	blood
10	chr12:121077600-121077800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:121077600-121077800	Bivalent Enhancer	Fetal Brain Female	brain
12	chr12:121077600-121077800	Bivalent Enhancer	K562	blood
13	chr12:121077600-121078000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr12:121077600-121078000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:121077600-121078000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:121077600-121078000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr12:121077600-121078000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr12:121077600-121078000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:121077600-121078000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
20	chr12:121077600-121078000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:121077600-121078000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
22	chr12:121077600-121078200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:121077600-121078200	Bivalent Enhancer	Fetal Lung	lung
24	chr12:121077600-121078400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr12:121077600-121079600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr12:121077600-121079600	Active TSS	Brain Angular Gyrus	brain

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