Variant report

Variant	rs7252254
Chromosome Location	chr19:21687561-21687562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr19:21687129-21689681	SK-N-SH	brain:	n/a	chr19:21688315-21688324 chr19:21688312-21688327 chr19:21688373-21688382
2	MXI1	chr19:21687519-21689374	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ZNF429	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 37 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1055753	0.95[JPT][hapmap]
rs11085447	0.85[CHD][hapmap];0.95[JPT][hapmap]
rs11085456	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11666680	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667259	0.81[ASN][1000 genomes]
rs11667770	0.94[JPT][hapmap]
rs11668682	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11669130	0.82[ASN][1000 genomes]
rs11671265	0.81[ASN][1000 genomes]
rs12461802	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12609768	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12609823	0.82[ASN][1000 genomes]
rs12610154	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973084	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12974329	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12975081	0.95[JPT][hapmap]
rs12975424	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12981564	0.95[JPT][hapmap]
rs12981735	0.89[JPT][hapmap]
rs12982282	0.95[JPT][hapmap]
rs12985995	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1401926	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1813234	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs1879237	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1879238	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2012013	0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs2088762	0.87[CHD][hapmap];0.95[JPT][hapmap]
rs2133822	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170024	0.95[JPT][hapmap]
rs2650793	0.82[JPT][hapmap]
rs2650805	0.82[JPT][hapmap]
rs2650845	0.86[CHD][hapmap]
rs28498118	0.83[ASN][1000 genomes]
rs28898308	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2914638	0.88[CHD][hapmap];0.95[JPT][hapmap]
rs34040704	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34497957	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35782355	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35994743	0.81[ASN][1000 genomes]
rs3973190	0.82[ASN][1000 genomes]
rs4315457	0.88[CHD][hapmap];0.95[JPT][hapmap]
rs4462731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4621113	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs56346453	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6511239	0.95[JPT][hapmap]
rs6511253	0.82[JPT][hapmap]
rs6511255	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511259	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7245729	0.81[ASN][1000 genomes]
rs7246883	0.81[ASN][1000 genomes]
rs7247060	0.82[ASN][1000 genomes]
rs7247411	0.88[CHD][hapmap];0.95[JPT][hapmap]
rs7248601	0.89[JPT][hapmap]
rs7249412	0.95[JPT][hapmap]
rs7249636	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs7250360	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7250838	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7251540	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7251620	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7252261	0.88[CHD][hapmap];0.95[JPT][hapmap]
rs7253249	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs7253559	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7256389	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7257186	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257857	0.88[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs7259311	0.95[JPT][hapmap]
rs7259317	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73017722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7508671	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs8099940	0.95[JPT][hapmap]
rs8101089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101900	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103325	0.88[CHD][hapmap];0.95[JPT][hapmap]
rs8103459	0.94[JPT][hapmap]
rs8106840	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8109536	0.87[AMR][1000 genomes]
rs8109940	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8110814	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8110967	0.95[JPT][hapmap]
rs8111885	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs924487	0.94[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs951162	0.81[ASN][1000 genomes]
rs9789284	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
10	nsv543941	chr19:21676223-21693215	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2762028	chr19:21685778-21755476	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv963024	chr19:21686690-21722618	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:37)

SNP	Gene	Cis/trans	Tissue	Source
rs7252254	ZNF208	cis	parietal	SCAN
rs7252254	ZNF486	cis	cerebellum	SCAN
rs7252254	CTD-2561J22.5	cis	Thyroid	GTEx
rs7252254	ZNF93	cis	cerebellum	SCAN
rs7252254	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs7252254	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs7252254	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs7252254	CTD-2561J22.5	cis	lung	GTEx
rs7252254	RP11-678G14.2	cis	Thyroid	GTEx
rs7252254	ZNF493	cis	cerebellum	SCAN
rs7252254	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs7252254	ZNF43	cis	parietal	SCAN
rs7252254	ZNF429	cis	Whole Blood	GTEx
rs7252254	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs7252254	ZNF826P	cis	parietal	SCAN
rs7252254	ZNF429	cis	cerebellum	SCAN
rs7252254	ZNF708	cis	cerebellum	SCAN
rs7252254	RP11-420K14.2	cis	Whole Blood	GTEx
rs7252254	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs7252254	RP11-678G14.3	cis	lung	GTEx
rs7252254	CTD-2561J22.5	cis	Nerve Tibial	GTEx
rs7252254	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs7252254	CTD-2626G11.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7252254	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs7252254	ZNF100	cis	Muscle Skeletal	GTEx
rs7252254	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs7252254	RP11-678G14.3	cis	Whole Blood	GTEx
rs7252254	ZNF429	cis	Muscle Skeletal	GTEx
rs7252254	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7252254	RP11-678G14.2	cis	Whole Blood	GTEx
rs7252254	CTD-2561J22.5	cis	Skin Sun Exposed Lower leg	GTEx
rs7252254	RP11-678G14.2	cis	lung	GTEx
rs7252254	CTD-2561J22.5	cis	Artery Tibial	GTEx
rs7252254	RP11-420K14.1	cis	Muscle Skeletal	GTEx
rs7252254	ZNF429	cis	parietal	SCAN
rs7252254	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs7252254	C19orf50	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21658200-21687800	Weak transcription	Brain Substantia Nigra	brain
2	chr19:21666800-21687600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:21669000-21687600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr19:21673400-21687800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:21674800-21687800	Weak transcription	Brain Hippocampus Middle	brain
6	chr19:21676000-21688000	Weak transcription	Fetal Stomach	stomach
7	chr19:21678000-21688000	Weak transcription	Thymus	Thymus
8	chr19:21679200-21688200	Weak transcription	Brain Angular Gyrus	brain
9	chr19:21680000-21687800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:21680000-21688200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:21680200-21687600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:21680200-21688200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:21681200-21688400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:21681400-21688200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:21681600-21688200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:21681800-21687600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:21681800-21688000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:21681800-21688000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:21681800-21688200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:21681800-21688400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:21683800-21688000	Weak transcription	Fetal Intestine Large	intestine
22	chr19:21687200-21687600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr19:21687200-21687800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr19:21687200-21688200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr19:21687200-21688200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr19:21687200-21688200	Enhancers	Primary T cells from cord blood	blood
27	chr19:21687200-21688200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr19:21687400-21687600	Weak transcription	Liver	Liver
29	chr19:21687400-21688000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr19:21687400-21688000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr19:21687400-21688000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:21687400-21688000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr19:21687400-21688000	Enhancers	Dnd41	blood
34	chr19:21687400-21688200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:21687400-21688200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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