Variant report

Variant	rs1211304
Chromosome Location	chr13:50381016-50381017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50365533..50367919-chr13:50378840..50381173,2	K562	blood:
2	chr13:50379870..50382030-chr13:50384102..50385752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1009333	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10492591	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1198315	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1198319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1198320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1198322	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1198324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1198327	0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1198328	0.85[EUR][1000 genomes]
rs1201716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1407440	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs1407441	1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs1547623	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1570353	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1581745	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2146143	0.87[GIH][hapmap];0.80[TSI][hapmap]
rs2181185	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2897770	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3851162	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3851164	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3851166	0.84[EUR][1000 genomes]
rs4942863	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4942866	0.91[EUR][1000 genomes]
rs55732704	0.84[EUR][1000 genomes]
rs59641461	0.84[EUR][1000 genomes]
rs61961491	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61961500	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61961501	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61961502	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6561552	0.87[GIH][hapmap]
rs6561560	1.00[GIH][hapmap]
rs73194445	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7330392	0.86[AMR][1000 genomes]
rs7983303	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7984061	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7996307	0.84[EUR][1000 genomes]
rs9316474	1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9316476	0.84[EUR][1000 genomes]
rs9535310	1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs9535316	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9535340	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9535341	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9562927	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9596197	0.87[EUR][1000 genomes]
rs9596200	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1211304	STK32C	trans	cerebellum	SCAN
rs1211304	TRIM13	cis	cerebellum	SCAN
rs1211304	SIAH3	cis	cerebellum	SCAN
rs1211304	HTR2A	cis	parietal	SCAN
rs1211304	KCNRG	cis	cerebellum	SCAN
rs1211304	EBPL	cis	cerebellum	SCAN
rs1211304	SNORA31	cis	cerebellum	SCAN
rs1211304	TRIM13	Cis_1M	lymphoblastoid	RTeQTL
rs1211304	RCBTB1	cis	cerebellum	SCAN
rs1211304	RB1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50379600-50385200	Enhancers	HepG2	liver
2	chr13:50380000-50381200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:50380600-50384600	Weak transcription	Pancreas	Pancrea
4	chr13:50381000-50384200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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