Variant report

Variant	rs2102922
Chromosome Location	chr19:21794642-21794643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21788851..21790670-chr19:21793445..21795166,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 33 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10854054	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11085469	0.89[ASN][1000 genomes]
rs11667151	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11673280	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11879044	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11881160	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11881176	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11881813	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12150968	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12327638	0.82[CHB][hapmap]
rs12459011	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12459715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463354	0.90[ASN][1000 genomes]
rs12463384	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12608625	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs12610221	0.83[ASN][1000 genomes]
rs12972148	0.91[ASN][1000 genomes]
rs12973203	0.89[ASN][1000 genomes]
rs12973209	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974817	0.91[ASN][1000 genomes]
rs12979255	0.86[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs12981277	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1520068	0.83[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs1520069	0.89[ASN][1000 genomes]
rs1520070	0.89[ASN][1000 genomes]
rs1533674	0.83[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs1850937	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102920	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2139530	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34015922	0.91[ASN][1000 genomes]
rs34692125	0.89[ASN][1000 genomes]
rs34835488	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35092215	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35229762	0.89[ASN][1000 genomes]
rs35465051	0.87[ASN][1000 genomes]
rs35998933	0.83[ASN][1000 genomes]
rs3817397	0.87[ASN][1000 genomes]
rs4435389	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4809146	0.85[ASN][1000 genomes]
rs4809147	0.85[ASN][1000 genomes]
rs4809148	0.85[ASN][1000 genomes]
rs4809151	0.89[ASN][1000 genomes]
rs4809152	0.83[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs4809153	0.85[ASN][1000 genomes]
rs4809154	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4809156	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55778393	0.85[ASN][1000 genomes]
rs55851748	0.81[ASN][1000 genomes]
rs57229007	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57235280	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58083971	0.87[AMR][1000 genomes]
rs59054166	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59803919	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61137407	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61461318	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62108370	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62108372	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62110244	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62110249	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6511268	0.82[CHB][hapmap]
rs6511273	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6511275	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67854708	0.89[ASN][1000 genomes]
rs71333832	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7246154	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248367	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249639	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7249775	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7250457	0.89[ASN][1000 genomes]
rs7250470	0.83[CHB][hapmap];0.89[ASN][1000 genomes]
rs7250663	0.89[ASN][1000 genomes]
rs7250960	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7251076	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7251111	0.82[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs7252080	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7252081	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7252104	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7252205	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7252706	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7254018	0.83[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs7254378	0.83[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs7255081	0.83[CHB][hapmap];0.89[ASN][1000 genomes]
rs7255395	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7255521	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7256982	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7257246	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259763	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7259888	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7260016	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7260175	0.87[ASN][1000 genomes]
rs7260391	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7260514	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100536	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8101255	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8101857	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109757	0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs8110320	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111076	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111313	0.83[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs8112158	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112960	0.87[ASN][1000 genomes]
rs9749033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9749043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9749067	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9749163	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9749167	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
2	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
3	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
4	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv911423	chr19:21783995-21858994	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:33)

SNP	Gene	Cis/trans	Tissue	Source
rs2102922	ZNF429	cis	Esophagus Mucosa	GTEx
rs2102922	ZNF493	cis	cerebellum	SCAN
rs2102922	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs2102922	CTD-2626G11.2	cis	Skin Sun Exposed Lower leg	GTEx
rs2102922	ZNF493	cis	multi-tissue	Pritchard
rs2102922	ZNF826P	cis	cerebellum	SCAN
rs2102922	ZNF93	cis	cerebellum	SCAN
rs2102922	ZNF486	cis	cerebellum	SCAN
rs2102922	NCAN	cis	parietal	SCAN
rs2102922	ZNF708	cis	Whole Blood	GTEx
rs2102922	ZNF254	cis	cerebellum	SCAN
rs2102922	UPF1	cis	parietal	SCAN
rs2102922	ZNF257	cis	cerebellum	SCAN
rs2102922	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs2102922	RP11-420K14.2	cis	lung	GTEx
rs2102922	ZNF493	cis	parietal	SCAN
rs2102922	RP11-678G14.3	cis	Whole Blood	GTEx
rs2102922	ZNF826P	cis	parietal	SCAN
rs2102922	RP11-678G14.3	cis	Esophagus Mucosa	GTEx
rs2102922	ZNF43	cis	cerebellum	SCAN
rs2102922	RP11-420K14.2	cis	Whole Blood	GTEx
rs2102922	RP11-678G14.3	cis	lung	GTEx
rs2102922	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs2102922	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs2102922	ZNF708	cis	cerebellum	SCAN
rs2102922	ZNF93	cis	parietal	SCAN
rs2102922	CTD-2561J22.5	cis	Esophagus Mucosa	GTEx
rs2102922	ZNF429	cis	multi-tissue	Pritchard
rs2102922	ZNF429	cis	cerebellum	SCAN
rs2102922	ZNF429	cis	Whole Blood	GTEx
rs2102922	ZNF208	cis	parietal	SCAN
rs2102922	ZNF43	cis	parietal	SCAN
rs2102922	ZNF429	cis	lung	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21789000-21797000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:21790400-21796000	Enhancers	Primary hematopoietic stem cells	blood
3	chr19:21790600-21796000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:21792400-21795800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:21794000-21795800	Enhancers	Fetal Intestine Small	intestine
6	chr19:21794400-21795200	Enhancers	Ovary	ovary
7	chr19:21794400-21795600	Flanking Active TSS	Dnd41	blood
8	chr19:21794400-21795800	Enhancers	Fetal Intestine Large	intestine
9	chr19:21794400-21795800	Enhancers	Fetal Kidney	kidney
10	chr19:21794600-21795000	Flanking Active TSS	K562	blood
11	chr19:21794600-21795600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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