Variant report

Variant	rs12299758
Chromosome Location	chr12:50756266-50756267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50753415..50756323-chr12:50757953..50759576,2	K562	blood:

Variant related genes	Relation type
ENSG00000244266	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10467106	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10506292	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783344	0.86[ASN][1000 genomes]
rs10783352	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783353	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876013	0.84[ASN][1000 genomes]
rs10876014	0.87[ASN][1000 genomes]
rs10876015	0.87[ASN][1000 genomes]
rs10876016	0.87[ASN][1000 genomes]
rs10876017	0.87[ASN][1000 genomes]
rs10876023	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876024	0.81[EUR][1000 genomes]
rs10876027	0.91[EUR][1000 genomes]
rs10876028	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169314	0.82[ASN][1000 genomes]
rs11169315	0.82[ASN][1000 genomes]
rs11169317	0.83[ASN][1000 genomes]
rs11169319	0.82[ASN][1000 genomes]
rs11169335	0.82[ASN][1000 genomes]
rs11169339	0.86[ASN][1000 genomes]
rs11169345	0.87[ASN][1000 genomes]
rs11169347	0.87[ASN][1000 genomes]
rs11169348	0.87[ASN][1000 genomes]
rs11169349	0.87[ASN][1000 genomes]
rs11169350	0.87[ASN][1000 genomes]
rs11169351	0.86[ASN][1000 genomes]
rs11169357	0.87[ASN][1000 genomes]
rs11169359	0.87[ASN][1000 genomes]
rs11169360	0.87[ASN][1000 genomes]
rs11169367	0.91[ASN][1000 genomes]
rs11169369	0.91[ASN][1000 genomes]
rs11169370	0.91[ASN][1000 genomes]
rs11169373	0.91[ASN][1000 genomes]
rs11169374	0.91[ASN][1000 genomes]
rs11169375	0.90[ASN][1000 genomes]
rs11169376	0.85[ASN][1000 genomes]
rs11169377	0.86[ASN][1000 genomes]
rs11169390	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169391	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169395	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11836169	0.91[ASN][1000 genomes]
rs11838347	0.87[ASN][1000 genomes]
rs12299669	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12303082	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312177	0.81[ASN][1000 genomes]
rs12422417	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12424876	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12425229	0.84[ASN][1000 genomes]
rs12426444	0.86[ASN][1000 genomes]
rs12582180	0.90[EUR][1000 genomes]
rs12811291	0.84[ASN][1000 genomes]
rs12814094	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12821454	0.86[ASN][1000 genomes]
rs12823506	0.86[ASN][1000 genomes]
rs12828340	0.82[ASN][1000 genomes]
rs12832940	0.87[ASN][1000 genomes]
rs1362983	0.83[ASN][1000 genomes]
rs17124562	0.82[ASN][1000 genomes]
rs1972611	0.86[ASN][1000 genomes]
rs2111988	0.87[ASN][1000 genomes]
rs28628775	0.87[ASN][1000 genomes]
rs34039674	0.90[ASN][1000 genomes]
rs34614542	0.90[ASN][1000 genomes]
rs34825838	0.83[ASN][1000 genomes]
rs34849043	0.91[ASN][1000 genomes]
rs34858415	0.91[ASN][1000 genomes]
rs34894919	0.81[ASN][1000 genomes]
rs35209607	0.91[ASN][1000 genomes]
rs35535298	0.87[ASN][1000 genomes]
rs35768991	0.86[ASN][1000 genomes]
rs35878271	0.91[ASN][1000 genomes]
rs35933908	0.87[ASN][1000 genomes]
rs36017775	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812825	0.84[ASN][1000 genomes]
rs3861100	0.84[ASN][1000 genomes]
rs4348979	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4421818	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4445717	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768855	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768872	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768891	0.91[EUR][1000 genomes]
rs4768949	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6580735	0.86[ASN][1000 genomes]
rs6580737	0.87[ASN][1000 genomes]
rs6580739	0.89[ASN][1000 genomes]
rs6580741	0.91[ASN][1000 genomes]
rs6580743	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7132551	0.86[ASN][1000 genomes]
rs7135777	0.86[ASN][1000 genomes]
rs7295847	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7296291	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7302363	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7304445	0.87[ASN][1000 genomes]
rs7305995	0.87[ASN][1000 genomes]
rs7308095	0.82[ASN][1000 genomes]
rs7310541	0.91[ASN][1000 genomes]
rs7311378	0.87[ASN][1000 genomes]
rs7311491	0.87[ASN][1000 genomes]
rs7311973	0.87[ASN][1000 genomes]
rs7312252	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7315955	0.86[ASN][1000 genomes]
rs7486747	0.86[ASN][1000 genomes]
rs7488682	0.87[ASN][1000 genomes]
rs7953953	0.86[ASN][1000 genomes]
rs7956468	0.87[ASN][1000 genomes]
rs7971374	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7972824	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7973243	0.81[EUR][1000 genomes]
rs7974648	0.84[ASN][1000 genomes]
rs7979830	0.86[ASN][1000 genomes]
rs7980911	0.89[ASN][1000 genomes]
rs9668187	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9705460	0.86[ASN][1000 genomes]
rs9739363	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12299758	CERS5	cis	Nerve Tibial	GTEx
rs12299758	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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