Variant report

Variant	rs6650372
Chromosome Location	chr13:48077592-48077593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10161665	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219892	1.00[ASN][1000 genomes]
rs10219965	1.00[ASN][1000 genomes]
rs10220186	1.00[ASN][1000 genomes]
rs10220209	1.00[ASN][1000 genomes]
rs10220222	1.00[ASN][1000 genomes]
rs11841086	1.00[ASN][1000 genomes]
rs11841823	1.00[ASN][1000 genomes]
rs12184925	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12385894	1.00[ASN][1000 genomes]
rs13378192	1.00[ASN][1000 genomes]
rs13378386	1.00[ASN][1000 genomes]
rs13378508	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378925	1.00[ASN][1000 genomes]
rs13378973	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379023	1.00[ASN][1000 genomes]
rs1340345	1.00[ASN][1000 genomes]
rs1340346	1.00[ASN][1000 genomes]
rs1361457	1.00[ASN][1000 genomes]
rs1417197	1.00[ASN][1000 genomes]
rs1538798	1.00[ASN][1000 genomes]
rs1538800	1.00[ASN][1000 genomes]
rs1819681	1.00[ASN][1000 genomes]
rs2153448	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2486999	1.00[ASN][1000 genomes]
rs2487000	1.00[ASN][1000 genomes]
rs2487007	1.00[ASN][1000 genomes]
rs4296164	1.00[ASN][1000 genomes]
rs4366617	1.00[ASN][1000 genomes]
rs4411407	1.00[ASN][1000 genomes]
rs4429188	1.00[ASN][1000 genomes]
rs4525393	1.00[ASN][1000 genomes]
rs4525394	1.00[ASN][1000 genomes]
rs4570735	1.00[ASN][1000 genomes]
rs4575434	1.00[ASN][1000 genomes]
rs58200007	1.00[ASN][1000 genomes]
rs59266213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561381	1.00[ASN][1000 genomes]
rs73180354	1.00[ASN][1000 genomes]
rs73180356	1.00[ASN][1000 genomes]
rs73180359	1.00[ASN][1000 genomes]
rs73180360	1.00[ASN][1000 genomes]
rs73180361	1.00[ASN][1000 genomes]
rs73180362	1.00[ASN][1000 genomes]
rs73180363	1.00[ASN][1000 genomes]
rs73180365	1.00[ASN][1000 genomes]
rs73180367	1.00[ASN][1000 genomes]
rs73180372	1.00[ASN][1000 genomes]
rs73180373	1.00[ASN][1000 genomes]
rs73180374	1.00[ASN][1000 genomes]
rs73180375	1.00[ASN][1000 genomes]
rs73180376	1.00[ASN][1000 genomes]
rs73180378	1.00[ASN][1000 genomes]
rs73180379	1.00[ASN][1000 genomes]
rs73180380	1.00[ASN][1000 genomes]
rs73180382	1.00[ASN][1000 genomes]
rs73180383	1.00[ASN][1000 genomes]
rs73180384	1.00[ASN][1000 genomes]
rs73180385	1.00[ASN][1000 genomes]
rs73180386	1.00[ASN][1000 genomes]
rs73180387	1.00[ASN][1000 genomes]
rs73180388	1.00[ASN][1000 genomes]
rs73180391	1.00[ASN][1000 genomes]
rs73180392	1.00[ASN][1000 genomes]
rs73180393	1.00[ASN][1000 genomes]
rs73180394	1.00[ASN][1000 genomes]
rs73180395	1.00[ASN][1000 genomes]
rs73180397	1.00[ASN][1000 genomes]
rs73180398	1.00[ASN][1000 genomes]
rs73180399	1.00[ASN][1000 genomes]
rs73180400	1.00[ASN][1000 genomes]
rs73182203	1.00[ASN][1000 genomes]
rs73182204	1.00[ASN][1000 genomes]
rs73182205	1.00[ASN][1000 genomes]
rs73182207	1.00[ASN][1000 genomes]
rs73182236	1.00[ASN][1000 genomes]
rs73182238	1.00[ASN][1000 genomes]
rs73182239	1.00[ASN][1000 genomes]
rs73182274	1.00[ASN][1000 genomes]
rs73182276	1.00[ASN][1000 genomes]
rs73182277	1.00[ASN][1000 genomes]
rs73182278	1.00[ASN][1000 genomes]
rs7319491	1.00[ASN][1000 genomes]
rs7324575	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329677	1.00[ASN][1000 genomes]
rs7987645	1.00[ASN][1000 genomes]
rs9316297	1.00[ASN][1000 genomes]
rs9316300	1.00[ASN][1000 genomes]
rs9316301	1.00[ASN][1000 genomes]
rs9316303	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316304	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316305	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316306	1.00[ASN][1000 genomes]
rs9316313	1.00[ASN][1000 genomes]
rs9534646	1.00[ASN][1000 genomes]
rs9534647	1.00[ASN][1000 genomes]
rs9534648	1.00[ASN][1000 genomes]
rs9534649	1.00[ASN][1000 genomes]
rs9567866	1.00[ASN][1000 genomes]
rs9591050	1.00[ASN][1000 genomes]
rs9591051	1.00[ASN][1000 genomes]
rs9591056	1.00[ASN][1000 genomes]
rs9591057	1.00[ASN][1000 genomes]
rs9591063	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591065	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591066	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591068	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591071	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591075	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591076	1.00[ASN][1000 genomes]
rs9595662	1.00[ASN][1000 genomes]
rs9595666	1.00[ASN][1000 genomes]
rs9595667	1.00[ASN][1000 genomes]
rs9595668	1.00[ASN][1000 genomes]
rs9595671	1.00[ASN][1000 genomes]
rs9595672	1.00[ASN][1000 genomes]
rs9595673	1.00[ASN][1000 genomes]
rs9595674	1.00[ASN][1000 genomes]
rs9595675	1.00[ASN][1000 genomes]
rs9595686	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595687	1.00[ASN][1000 genomes]
rs9595688	1.00[ASN][1000 genomes]
rs9595691	1.00[ASN][1000 genomes]
rs9595709	1.00[ASN][1000 genomes]
rs9595711	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595712	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9595713	1.00[ASN][1000 genomes]
rs9595714	1.00[ASN][1000 genomes]
rs9595716	1.00[ASN][1000 genomes]
rs9595720	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595732	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595733	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595738	1.00[ASN][1000 genomes]
rs9652163	1.00[ASN][1000 genomes]
rs9943957	1.00[ASN][1000 genomes]
rs997708	1.00[ASN][1000 genomes]

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	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3450125	chr13:47919050-48236684	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455879	chr13:47919611-48190106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561588	chr13:47943829-48190106	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6650372	RB1	cis	lymphoblastoid	seeQTL
rs6650372	ITM2B	cis	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48072800-48082600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:48073800-48078200	Enhancers	Hela-S3	cervix
3	chr13:48074400-48082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:48074800-48082600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:48074800-48082600	Weak transcription	HMEC	breast
6	chr13:48076600-48077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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