Variant report

Variant	rs952194
Chromosome Location	chr8:55040026-55040027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:55039661..55044382-chr8:55045790..55048984,5	K562	blood:
2	chr8:55037044..55042140-chr8:55046805..55049564,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10101097	0.80[ASN][1000 genomes]
rs10216491	0.80[ASN][1000 genomes]
rs1039926	0.87[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs10504161	0.87[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap]
rs1050523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs10958396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10958397	0.87[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs11783652	0.82[CHB][hapmap]
rs11986577	1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs11991952	0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap]
rs11993367	0.83[ASN][1000 genomes]
rs11993959	0.87[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.80[ASN][1000 genomes]
rs11994629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11996128	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12114043	0.81[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.80[ASN][1000 genomes]
rs12114739	0.80[ASN][1000 genomes]
rs12674895	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12679103	0.89[EUR][1000 genomes]
rs12679542	0.87[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.83[ASN][1000 genomes]
rs12681024	0.82[ASN][1000 genomes]
rs16919699	0.80[CHB][hapmap]
rs16919782	0.87[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.80[ASN][1000 genomes]
rs16919784	0.87[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.80[ASN][1000 genomes]
rs1828835	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2008122	0.80[ASN][1000 genomes]
rs2037068	0.83[ASN][1000 genomes]
rs2271567	0.91[CEU][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2292589	0.83[ASN][1000 genomes]
rs2292590	0.91[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2375696	0.89[EUR][1000 genomes]
rs28573859	0.82[EUR][1000 genomes]
rs34168614	0.81[ASN][1000 genomes]
rs34997387	0.84[EUR][1000 genomes]
rs4440612	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs4506187	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4737457	0.83[ASN][1000 genomes]
rs4737479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737485	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737486	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737487	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737503	0.90[MEX][hapmap]
rs4738519	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs57872947	0.81[ASN][1000 genomes]
rs58387069	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58419852	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58948369	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60183530	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61213253	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61271559	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61477279	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6473909	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6473911	0.87[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6473913	0.83[ASN][1000 genomes]
rs6473914	0.87[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap]
rs6473915	0.87[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.80[ASN][1000 genomes]
rs6983694	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7011379	0.84[ASN][1000 genomes]
rs7011430	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7012031	0.87[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.80[ASN][1000 genomes]
rs72614666	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72614667	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72614668	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72614670	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72614671	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7463083	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs7464767	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs7830051	0.83[ASN][1000 genomes]
rs7842911	0.93[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9298497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap]
rs981638	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs952194	MRPL15	Cis_1M	lymphoblastoid	RTeQTL
rs952194	TCEA1	cis	lymphoblastoid	seeQTL
rs952194	MRPL15	cis	lymphoblastoid	seeQTL

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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