Variant report

Variant	rs11032661
Chromosome Location	chr11:34430577-34430578
allele	A/C
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	MAFK	chr11:34430336-34430708	Hela-S3	cervix:	n/a	chr11:34430594-34430611 chr11:34430511-34430527 chr11:34430509-34430529 chr11:34430508-34430524 chr11:34430508-34430523 chr11:34430512-34430526
2	MAFK	chr11:34430325-34430728	HepG2	liver:	n/a	chr11:34430594-34430611 chr11:34430511-34430527 chr11:34430509-34430529 chr11:34430508-34430524 chr11:34430508-34430523 chr11:34430512-34430526
3	CEBPB	chr11:34430488-34430895	H1-hESC	embryonic stem cell:	n/a	chr11:34430759-34430770 chr11:34430758-34430769 chr11:34430757-34430774
4	MAFF	chr11:34430255-34430710	K562	blood:	n/a	chr11:34430506-34430524 chr11:34430512-34430526
5	MAFK	chr11:34430258-34430795	GM12878	blood:	n/a	chr11:34430594-34430611 chr11:34430511-34430527 chr11:34430509-34430529 chr11:34430508-34430524 chr11:34430508-34430523 chr11:34430512-34430526
6	MAFK	chr11:34430314-34430707	K562	blood:	n/a	chr11:34430594-34430611 chr11:34430511-34430527 chr11:34430509-34430529 chr11:34430508-34430524 chr11:34430508-34430523 chr11:34430512-34430526
7	MAFK	chr11:34430115-34430707	H1-hESC	embryonic stem cell:	n/a	chr11:34430594-34430611 chr11:34430511-34430527 chr11:34430509-34430529 chr11:34430508-34430524 chr11:34430508-34430523 chr11:34430512-34430526
8	MAFK	chr11:34430250-34430728	HepG2	liver:	n/a	chr11:34430594-34430611 chr11:34430511-34430527 chr11:34430509-34430529 chr11:34430508-34430524 chr11:34430508-34430523 chr11:34430512-34430526
9	MAFF	chr11:34430190-34430758	HepG2	liver:	n/a	chr11:34430506-34430524 chr11:34430512-34430526
10	MAFK	chr11:34430331-34430707	IMR90	lung:	n/a	chr11:34430594-34430611 chr11:34430511-34430527 chr11:34430509-34430529 chr11:34430508-34430524 chr11:34430508-34430523 chr11:34430512-34430526

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34424466..34427281-chr11:34430269..34433199,2	K562	blood:

Variant related genes	Relation type
ENSG00000220204	TF binding region
ENSG00000220204	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1008491	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10836215	0.92[EUR][1000 genomes]
rs10836223	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836229	0.83[ASN][1000 genomes]
rs10836230	0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836234	1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11032654	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11032667	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032669	1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032670	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032671	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032682	0.92[ASN][1000 genomes]
rs11032695	1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11032726	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11604331	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12361866	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790004	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790378	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793666	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12804506	1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804689	1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806377	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807961	1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12808450	1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1408041	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17269903	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17352313	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146962	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2420386	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs34329347	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34533645	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35725681	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55892947	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59090359	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66679411	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737254	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs873466	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910089	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv983151	chr11:34401342-34444667	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11032661	CAT	cis	Whole Blood	GTEx
rs11032661	ABTB2	cis	Whole Blood	GTEx
rs11032661	CAT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34424800-34431000	Enhancers	Liver	Liver
2	chr11:34425600-34435400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:34427400-34432400	Weak transcription	Hela-S3	cervix
4	chr11:34427600-34434400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:34429000-34434800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:34429400-34432400	Weak transcription	Stomach Mucosa	stomach
7	chr11:34430200-34430600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:34430200-34430600	Flanking Active TSS	HepG2	liver
9	chr11:34430200-34430800	Enhancers	Primary neutrophils fromperipheralblood	blood

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