Variant report

Variant	rs7251324
Chromosome Location	chr19:22837189-22837190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1125907	0.83[ASN][1000 genomes]
rs12972867	0.81[AFR][1000 genomes]
rs12972909	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12978511	0.82[ASN][1000 genomes]
rs12978964	0.83[ASN][1000 genomes]
rs12979173	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12979848	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12983260	0.80[ASN][1000 genomes]
rs12983761	0.82[ASN][1000 genomes]
rs12984634	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12984903	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1835993	0.83[ASN][1000 genomes]
rs1835994	0.83[ASN][1000 genomes]
rs1984783	0.82[ASN][1000 genomes]
rs2082445	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2099341	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2361245	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2885221	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2885222	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34563787	0.83[ASN][1000 genomes]
rs34682021	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs35007247	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs35023140	0.81[ASN][1000 genomes]
rs35355374	0.84[ASN][1000 genomes]
rs35731237	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs35740274	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3745116	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3951783	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4414616	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4627499	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4933019	0.83[ASN][1000 genomes]
rs4933020	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4933021	0.82[ASN][1000 genomes]
rs56247961	0.82[AFR][1000 genomes]
rs56271774	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs56663398	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs58265266	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs58998018	0.83[ASN][1000 genomes]
rs62118818	0.80[ASN][1000 genomes]
rs62118819	0.81[ASN][1000 genomes]
rs6511367	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs66620859	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7250111	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7250285	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7250343	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7251887	0.81[ASN][1000 genomes]
rs73018802	0.80[ASN][1000 genomes]
rs73020703	0.80[ASN][1000 genomes]
rs73028793	0.82[ASN][1000 genomes]
rs7409004	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7507680	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7507688	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7507785	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9710074	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360126	chr19:22209871-23199213	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3333410	chr19:22213338-23199725	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv525240	chr19:22250912-23216667	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
4	esv3363663	chr19:22320301-23103053	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv911440	chr19:22325391-23216667	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
6	nsv819194	chr19:22336264-23223696	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv911443	chr19:22338142-22899585	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv911444	chr19:22338142-23198437	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv911445	chr19:22346403-22899585	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
10	nsv819205	chr19:22346403-23199700	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	nsv1064071	chr19:22359491-23153773	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
12	nsv543957	chr19:22359491-23153773	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
13	nsv932157	chr19:22359492-23192975	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
14	esv3387241	chr19:22383621-23175441	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
15	nsv1059925	chr19:22408435-23083293	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
16	nsv1056393	chr19:22408435-23106126	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
17	esv3496801	chr19:22635989-23028182	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	esv3496802	chr19:22635989-23028182	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
19	esv3529242	chr19:22650256-22863256	Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	esv3529243	chr19:22650256-22863256	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv1062447	chr19:22818831-22879285	Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv911451	chr19:22826728-23198437	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7251324	ZNF492	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22834200-22839200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr19:22834600-22839200	Weak transcription	Dnd41	blood
3	chr19:22835000-22839200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr19:22835000-22844000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:22836400-22837200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:22836800-22837200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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