Variant report

Variant	rs11042318
Chromosome Location	chr11:9394830-9394831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9394586..9396776-chr11:9404549..9406653,2	K562	blood:
2	chr11:9384654..9388171-chr11:9393379..9396078,3	MCF-7	breast:
3	chr11:9385802..9387665-chr11:9394005..9395643,2	K562	blood:
4	chr11:9385882..9388883-chr11:9391804..9395643,5	K562	blood:
5	chr11:9394195..9396569-chr11:9481524..9484200,3	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10082685	0.80[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs10840246	0.80[CEU][hapmap]
rs11042308	0.88[CEU][hapmap]
rs11042319	0.98[ASN][1000 genomes]
rs11042323	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11042363	0.86[AMR][1000 genomes]
rs11042401	0.80[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs11602025	0.80[CEU][hapmap]
rs11602056	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11607631	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs12275828	0.98[EUR][1000 genomes]
rs12279202	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs12286949	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293264	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap]
rs12294461	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12574246	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs1546	0.80[CEU][hapmap]
rs16906804	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs34485398	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36048375	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs4910052	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs4910463	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910466	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs4910467	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs4910469	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap]
rs4910471	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][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	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
4	nsv975322	chr11:9363750-9395226	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11042318	ZNF143	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9386800-9406000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:9394200-9395000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:9394200-9395000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:9394600-9395200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:9394800-9400600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:9394800-9400600	Weak transcription	HepG2	liver
7	chr11:9394800-9402000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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