Variant report

Variant	rs11053865
Chromosome Location	chr12:10723799-10723800
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	chr12:10722202..10724547-chr12:10764643..10766915,2	K562	blood:
2	chr1:2165020..2165613-chr12:10723245..10724037,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10734838	0.84[ASN][1000 genomes]
rs10743910	0.84[ASN][1000 genomes]
rs10772312	0.88[ASN][1000 genomes]
rs10772315	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10772316	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772317	0.85[ASN][1000 genomes]
rs10772319	0.84[ASN][1000 genomes]
rs10772321	0.84[ASN][1000 genomes]
rs10772323	0.84[ASN][1000 genomes]
rs10772324	0.85[ASN][1000 genomes]
rs10772325	0.83[ASN][1000 genomes]
rs10772326	0.84[ASN][1000 genomes]
rs10772327	0.84[ASN][1000 genomes]
rs10772329	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10845161	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10845163	0.82[ASN][1000 genomes]
rs10845164	0.83[ASN][1000 genomes]
rs10845165	0.85[ASN][1000 genomes]
rs10845166	0.85[ASN][1000 genomes]
rs10845172	0.84[ASN][1000 genomes]
rs10845174	0.83[ASN][1000 genomes]
rs10845175	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11053857	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11053859	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11053869	0.84[ASN][1000 genomes]
rs11053870	0.84[ASN][1000 genomes]
rs11053871	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12423957	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1915322	0.83[ASN][1000 genomes]
rs1915323	0.84[ASN][1000 genomes]
rs2002156	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002157	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2125092	0.85[ASN][1000 genomes]
rs2125094	0.83[ASN][1000 genomes]
rs2125095	0.85[ASN][1000 genomes]
rs2168750	0.84[ASN][1000 genomes]
rs2417746	0.83[ASN][1000 genomes]
rs2417747	0.82[ASN][1000 genomes]
rs2417748	0.83[ASN][1000 genomes]
rs2607883	0.80[ASN][1000 genomes]
rs2607888	0.80[ASN][1000 genomes]
rs28403396	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28701155	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816567	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3867478	0.85[ASN][1000 genomes]
rs3983544	0.84[ASN][1000 genomes]
rs3983545	0.84[ASN][1000 genomes]
rs3983546	0.84[ASN][1000 genomes]
rs3983547	0.83[ASN][1000 genomes]
rs4076336	0.80[ASN][1000 genomes]
rs4237928	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4237929	0.80[ASN][1000 genomes]
rs4476009	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763528	0.85[ASN][1000 genomes]
rs4763531	0.85[ASN][1000 genomes]
rs4763532	0.85[ASN][1000 genomes]
rs4763547	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763548	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763550	0.83[ASN][1000 genomes]
rs4763551	0.83[ASN][1000 genomes]
rs4763553	0.83[ASN][1000 genomes]
rs4763555	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763559	0.84[ASN][1000 genomes]
rs55837119	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58917785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60367665	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61913124	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6488307	0.84[ASN][1000 genomes]
rs7134658	0.84[ASN][1000 genomes]
rs7134908	0.84[ASN][1000 genomes]
rs7136964	0.83[ASN][1000 genomes]
rs7137465	0.83[ASN][1000 genomes]
rs7306285	0.84[ASN][1000 genomes]
rs7306724	0.85[ASN][1000 genomes]
rs7311860	0.83[ASN][1000 genomes]
rs7955358	0.80[ASN][1000 genomes]
rs7965052	0.83[ASN][1000 genomes]
rs7978788	0.80[ASN][1000 genomes]
rs7978850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980411	0.84[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	nsv557459	chr12:10560591-10729821	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv557479	chr12:10644663-10729821	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv898775	chr12:10668694-10735786	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1806801	chr12:10721485-10727408	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1813740	chr12:10721485-10727408	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10710800-10724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:10714000-10733200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:10716800-10723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:10722600-10723800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:10723000-10723800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:10723600-10723800	Enhancers	A549	lung
7	chr12:10723600-10724600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:10723600-10725800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:10723600-10725800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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