Variant report

Variant	rs7985098
Chromosome Location	chr13:111386416-111386417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111365245..111367807-chr13:111384791..111387198,2	MCF-7	breast:
2	chr13:111376558..111379495-chr13:111384909..111386975,2	K562	blood:
3	chr13:111385516..111387873-chr13:111397501..111399093,2	K562	blood:

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1061386	0.83[EUR][1000 genomes]
rs11618891	0.90[EUR][1000 genomes]
rs12875067	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1441042	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1441043	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2077891	0.87[AFR][1000 genomes]
rs2083568	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2119479	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2165418	0.87[EUR][1000 genomes]
rs2289461	0.80[AMR][1000 genomes]
rs2766714	0.82[EUR][1000 genomes]
rs2986322	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs330571	0.94[CHB][hapmap]
rs369676	0.94[CHB][hapmap]
rs3809344	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3818496	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs386109	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs389656	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs410049	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs416552	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs440500	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4771707	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4773240	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4773241	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4773244	0.88[EUR][1000 genomes]
rs61971615	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6492302	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6492303	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6492304	0.89[EUR][1000 genomes]
rs6492305	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6492306	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6492308	0.87[EUR][1000 genomes]
rs6492310	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7318291	0.83[EUR][1000 genomes]
rs7319459	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7330080	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7337126	0.87[EUR][1000 genomes]
rs7338458	0.87[EUR][1000 genomes]
rs754599	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7984468	0.87[EUR][1000 genomes]
rs7986286	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7991766	0.89[EUR][1000 genomes]
rs8000294	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs9301476	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9515273	0.88[EUR][1000 genomes]
rs9515274	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9521905	0.83[EUR][1000 genomes]
rs9521909	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9521910	0.84[EUR][1000 genomes]
rs9521913	0.89[EUR][1000 genomes]
rs9521914	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9521915	0.90[EUR][1000 genomes]
rs9521916	0.81[CEU][hapmap]
rs9521924	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9555724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9555726	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9559863	0.88[EUR][1000 genomes]
rs9588247	0.84[EUR][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	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	esv3440925	chr13:111378000-111406978	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1041716	chr13:111378180-111516489	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv541926	chr13:111378180-111516489	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7985098	CARS2	cis	Esophagus Muscularis	GTEx
rs7985098	CARS2	cis	Nerve Tibial	GTEx
rs7985098	CARS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111378200-111390800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:111386000-111387200	Enhancers	HepG2	liver

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