Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:139694026..139696985-chr6:140124355..140126550,2	K562	blood:
2	chr6:139694287..139696985-chr6:140124308..140125855,2	K562	blood:
3	chr6:140123522..140126295-chr6:140134268..140137009,2	K562	blood:
4	chr6:140101468..140104254-chr6:140123458..140124998,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11963806	1.00[ASN][1000 genomes]
rs12110570	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2144165	1.00[ASN][1000 genomes]
rs2179995	1.00[ASN][1000 genomes]
rs2179996	1.00[ASN][1000 genomes]
rs2207334	1.00[ASN][1000 genomes]
rs3001016	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3918473	1.00[ASN][1000 genomes]
rs3946063	1.00[ASN][1000 genomes]
rs4403279	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570382	1.00[ASN][1000 genomes]
rs6570383	1.00[ASN][1000 genomes]
rs6900161	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900843	1.00[ASN][1000 genomes]
rs6912157	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6917570	1.00[ASN][1000 genomes]
rs6917808	1.00[ASN][1000 genomes]
rs6939887	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72986790	1.00[ASN][1000 genomes]
rs7743495	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7745714	1.00[ASN][1000 genomes]
rs7746560	1.00[ASN][1000 genomes]
rs7750105	1.00[ASN][1000 genomes]
rs7761684	1.00[ASN][1000 genomes]
rs7762012	1.00[ASN][1000 genomes]
rs7768688	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7775904	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs9376470	1.00[ASN][1000 genomes]
rs9399296	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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1022881	chr6:140098646-140172570	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv886692	chr6:140111650-140155090	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3015438	CNTN6	trans	lymphoblastoid	seeQTL
rs3015438	UTS2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140123400-140125400	Weak transcription	Fetal Intestine Small	intestine

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