Variant report

Variant	rs11169386
Chromosome Location	chr12:50737547-50737548
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50736936..50740764-chr12:50743981..50747917,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185958	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10783344	0.82[EUR][1000 genomes]
rs10783349	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783350	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876013	0.81[EUR][1000 genomes]
rs10876014	0.88[EUR][1000 genomes]
rs10876015	0.88[EUR][1000 genomes]
rs10876016	0.88[EUR][1000 genomes]
rs10876017	0.87[EUR][1000 genomes]
rs10876018	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876027	0.90[AFR][1000 genomes]
rs11169317	0.81[EUR][1000 genomes]
rs11169322	0.81[EUR][1000 genomes]
rs11169331	0.82[EUR][1000 genomes]
rs11169332	0.82[EUR][1000 genomes]
rs11169335	0.82[EUR][1000 genomes]
rs11169339	0.83[EUR][1000 genomes]
rs11169345	0.88[EUR][1000 genomes]
rs11169347	0.88[EUR][1000 genomes]
rs11169348	0.88[EUR][1000 genomes]
rs11169349	0.88[EUR][1000 genomes]
rs11169350	0.88[EUR][1000 genomes]
rs11169351	0.88[EUR][1000 genomes]
rs11169357	0.87[EUR][1000 genomes]
rs11169359	0.87[EUR][1000 genomes]
rs11169360	0.88[EUR][1000 genomes]
rs11169367	0.84[EUR][1000 genomes]
rs11169369	0.88[EUR][1000 genomes]
rs11169370	0.88[EUR][1000 genomes]
rs11169371	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169373	0.89[EUR][1000 genomes]
rs11169374	0.89[EUR][1000 genomes]
rs11169375	0.89[EUR][1000 genomes]
rs11169376	0.88[EUR][1000 genomes]
rs11169377	0.88[EUR][1000 genomes]
rs11169379	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11836169	0.92[EUR][1000 genomes]
rs11838347	0.88[EUR][1000 genomes]
rs12424691	0.81[EUR][1000 genomes]
rs12424713	0.81[EUR][1000 genomes]
rs12425229	0.81[EUR][1000 genomes]
rs12425705	0.82[EUR][1000 genomes]
rs12426444	0.80[EUR][1000 genomes]
rs12582180	0.84[AFR][1000 genomes]
rs12811291	0.81[EUR][1000 genomes]
rs12821454	0.88[EUR][1000 genomes]
rs12821504	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12823506	0.83[EUR][1000 genomes]
rs12828340	0.80[EUR][1000 genomes]
rs12832940	0.88[EUR][1000 genomes]
rs1362983	0.81[EUR][1000 genomes]
rs17124562	0.81[EUR][1000 genomes]
rs1972611	0.83[EUR][1000 genomes]
rs2111988	0.88[EUR][1000 genomes]
rs2358539	0.82[EUR][1000 genomes]
rs28628775	0.87[EUR][1000 genomes]
rs34039674	0.90[EUR][1000 genomes]
rs34614542	0.91[EUR][1000 genomes]
rs34825838	0.80[EUR][1000 genomes]
rs34849043	0.90[EUR][1000 genomes]
rs34858415	0.91[EUR][1000 genomes]
rs35209607	0.89[EUR][1000 genomes]
rs35535298	0.87[EUR][1000 genomes]
rs35663729	0.85[EUR][1000 genomes]
rs35768991	0.83[EUR][1000 genomes]
rs35878271	0.90[EUR][1000 genomes]
rs35933908	0.88[EUR][1000 genomes]
rs3812825	0.81[EUR][1000 genomes]
rs4768872	0.93[EUR][1000 genomes]
rs4768891	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4768949	0.92[EUR][1000 genomes]
rs4768951	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580735	0.88[EUR][1000 genomes]
rs6580736	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580737	0.88[EUR][1000 genomes]
rs6580738	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6580739	0.89[EUR][1000 genomes]
rs6580740	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6580741	0.90[EUR][1000 genomes]
rs67138019	0.86[EUR][1000 genomes]
rs7132551	0.83[EUR][1000 genomes]
rs7135777	0.88[EUR][1000 genomes]
rs71465002	0.81[EUR][1000 genomes]
rs7301186	0.80[EUR][1000 genomes]
rs7304445	0.87[EUR][1000 genomes]
rs7305995	0.88[EUR][1000 genomes]
rs7308885	0.81[EUR][1000 genomes]
rs7310541	0.92[EUR][1000 genomes]
rs7311378	0.88[EUR][1000 genomes]
rs7311491	0.88[EUR][1000 genomes]
rs7311973	0.88[EUR][1000 genomes]
rs7314465	0.82[EUR][1000 genomes]
rs7315871	0.81[EUR][1000 genomes]
rs7315955	0.82[EUR][1000 genomes]
rs7399343	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7485486	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7486747	0.83[EUR][1000 genomes]
rs7488682	0.88[EUR][1000 genomes]
rs7489214	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953953	0.82[EUR][1000 genomes]
rs7956468	0.88[EUR][1000 genomes]
rs7973243	0.86[AFR][1000 genomes]
rs7974648	0.83[EUR][1000 genomes]
rs7979830	0.81[EUR][1000 genomes]
rs7980911	0.88[EUR][1000 genomes]
rs9705460	0.88[EUR][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
rs11169386	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs11169386	CERS5	cis	Nerve Tibial	GTEx

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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