Variant report

Variant	rs1234251
Chromosome Location	chr19:37671256-37671257
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1047333	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs11084871	0.85[EUR][1000 genomes]
rs11666897	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11667146	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs11670216	0.85[EUR][1000 genomes]
rs11671112	0.82[EUR][1000 genomes]
rs11673192	0.85[EUR][1000 genomes]
rs11673344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12151313	0.88[EUR][1000 genomes]
rs1533736	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs1610560	0.80[EUR][1000 genomes]
rs17707446	0.81[CEU][hapmap]
rs1879497	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs1962889	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011475	0.85[EUR][1000 genomes]
rs2562587	0.85[EUR][1000 genomes]
rs3745768	0.85[CEU][hapmap]
rs3745770	0.85[CEU][hapmap]
rs45626541	0.93[EUR][1000 genomes]
rs55792845	0.84[EUR][1000 genomes]
rs55921822	0.84[EUR][1000 genomes]
rs56208574	0.84[EUR][1000 genomes]
rs56330606	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56343212	0.82[EUR][1000 genomes]
rs703530	0.85[EUR][1000 genomes]
rs703535	0.84[EUR][1000 genomes]
rs703537	0.85[EUR][1000 genomes]
rs7247589	0.85[EUR][1000 genomes]
rs7254616	0.82[EUR][1000 genomes]
rs7256213	0.85[EUR][1000 genomes]
rs7256746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256876	0.89[EUR][1000 genomes]
rs7257135	0.81[CEU][hapmap]
rs7259513	0.89[EUR][1000 genomes]
rs7260386	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73622783	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8104919	0.85[EUR][1000 genomes]
rs8106386	0.85[EUR][1000 genomes]
rs8107192	0.84[EUR][1000 genomes]
rs8108727	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs8110696	0.81[EUR][1000 genomes]
rs826322	0.85[EUR][1000 genomes]
rs826323	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
7	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv3433517	chr19:37643755-37675928	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1234251	AC012309.5	cis	Thyroid	GTEx
rs1234251	AC012309.5	cis	Heart Left Ventricle	GTEx
rs1234251	ZNF585B	cis	Artery Tibial	GTEx
rs1234251	AC012309.5	cis	Artery Tibial	GTEx
rs1234251	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs1234251	AC012309.5	cis	Esophagus Muscularis	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37663600-37673200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:37664000-37673000	Weak transcription	Fetal Brain Female	brain
3	chr19:37664000-37673400	Weak transcription	Fetal Brain Male	brain
4	chr19:37664200-37673200	Weak transcription	Fetal Heart	heart
5	chr19:37664200-37675400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:37668000-37686000	ZNF genes & repeats	Liver	Liver
7	chr19:37670000-37681200	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:37670400-37672800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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