Variant report

Variant	rs7251620
Chromosome Location	chr19:21669681-21669682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11666680	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11667259	0.82[ASN][1000 genomes]
rs11668682	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11669130	0.83[ASN][1000 genomes]
rs11671265	0.81[ASN][1000 genomes]
rs12609768	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12609823	0.83[ASN][1000 genomes]
rs12610154	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12974329	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2133822	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28498118	0.84[ASN][1000 genomes]
rs28898308	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34497957	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35782355	0.80[EUR][1000 genomes]
rs35994743	0.82[ASN][1000 genomes]
rs3973190	0.83[ASN][1000 genomes]
rs4462731	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56346453	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6511255	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6511259	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7245729	0.81[ASN][1000 genomes]
rs7246883	0.81[ASN][1000 genomes]
rs7247060	0.83[ASN][1000 genomes]
rs7250838	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7251082	0.83[AFR][1000 genomes]
rs7252254	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7256389	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7257186	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7259317	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73017722	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8101089	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8101900	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8106840	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8110814	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs924487	0.83[ASN][1000 genomes]
rs951162	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv510759	chr19:21664791-21723191	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs7251620	RP11-678G14.2	cis	Whole Blood	GTEx
rs7251620	CTD-2561J22.5	cis	lung	GTEx
rs7251620	LOC400680	Cis_1M	lymphoblastoid	RTeQTL
rs7251620	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs7251620	ZNF100	cis	Muscle Skeletal	GTEx
rs7251620	CTD-2561J22.5	cis	Thyroid	GTEx
rs7251620	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs7251620	ZNF429	cis	Muscle Skeletal	GTEx
rs7251620	RP11-420K14.1	cis	Muscle Skeletal	GTEx
rs7251620	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs7251620	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs7251620	RP11-678G14.2	cis	lung	GTEx
rs7251620	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs7251620	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs7251620	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7251620	RP11-678G14.3	cis	Whole Blood	GTEx
rs7251620	RP11-678G14.2	cis	Thyroid	GTEx
rs7251620	CTD-2561J22.5	cis	Nerve Tibial	GTEx
rs7251620	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs7251620	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs7251620	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs7251620	RP11-678G14.3	cis	lung	GTEx
rs7251620	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs7251620	CTD-2626G11.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7251620	CTD-2561J22.5	cis	Artery Tibial	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21658200-21687800	Weak transcription	Brain Substantia Nigra	brain
2	chr19:21666800-21670200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:21666800-21687600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:21668400-21671200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:21669000-21670400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:21669000-21670400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:21669000-21677600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:21669000-21687600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr19:21669200-21670400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:21669200-21673400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:21669400-21669800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:21669400-21670000	Weak transcription	H9 Cell Line	embryonic stem cell

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