Variant report

Variant	rs2937158
Chromosome Location	chr19:21616033-21616034
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	chr19:21614539..21617498-chr19:21618431..21621735,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11085450	0.81[EUR][1000 genomes]
rs11671265	0.82[EUR][1000 genomes]
rs11671832	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12150996	0.84[AFR][1000 genomes]
rs12151222	0.84[AFR][1000 genomes]
rs12609823	0.81[EUR][1000 genomes]
rs17680671	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1827225	0.81[AMR][1000 genomes]
rs2133819	0.84[EUR][1000 genomes]
rs2650774	0.97[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2914647	0.83[AFR][1000 genomes]
rs2914648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2914649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2937159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35994743	0.81[EUR][1000 genomes]
rs3973190	0.80[EUR][1000 genomes]
rs56152627	0.84[AFR][1000 genomes]
rs62110417	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62110418	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62111469	0.84[AFR][1000 genomes]
rs62111470	0.84[AFR][1000 genomes]
rs7245729	0.82[EUR][1000 genomes]
rs7247060	0.80[EUR][1000 genomes]
rs7254762	0.81[AMR][1000 genomes]
rs7258211	0.84[AFR][1000 genomes]
rs7259178	0.85[AFR][1000 genomes]
rs8101077	0.80[AFR][1000 genomes]
rs8102655	0.80[AFR][1000 genomes]
rs8103151	0.80[AFR][1000 genomes]
rs8107999	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs924487	0.81[EUR][1000 genomes]
rs951162	0.81[EUR][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	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong 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	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers 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	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs2937158	RP11-678G14.2	cis	Whole Blood	GTEx
rs2937158	RP11-678G14.2	cis	Nerve Tibial	GTEx
rs2937158	RP11-678G14.2	cis	Thyroid	GTEx
rs2937158	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs2937158	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs2937158	CTD-2561J22.5	cis	Nerve Tibial	GTEx
rs2937158	CTD-2561J22.5	cis	Thyroid	GTEx
rs2937158	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs2937158	CTD-2561J22.5	cis	Skin Sun Exposed Lower leg	GTEx
rs2937158	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs2937158	CTD-2561J22.5	cis	lung	GTEx
rs2937158	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs2937158	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs2937158	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs2937158	RP11-678G14.3	cis	lung	GTEx
rs2937158	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2937158	ZNF493	cis	Heart Left Ventricle	GTEx
rs2937158	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs2937158	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs2937158	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs2937158	RP11-678G14.2	cis	lung	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21607600-21630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:21613400-21618600	ZNF genes & repeats	Liver	Liver
3	chr19:21614800-21616200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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