Variant report

Variant	rs12270253
Chromosome Location	chr11:66873343-66873344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66868215..66869893-chr11:66872876..66875422,2	K562	blood:
2	chr11:66871455..66873562-chr11:66884732..66886796,2	MCF-7	breast:
3	chr11:66872090..66874276-chr11:66882740..66884363,2	K562	blood:

Variant related genes	Relation type
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10128545	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227704	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227708	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227734	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227739	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227741	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227749	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227754	1.00[AMR][1000 genomes]
rs11501507	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274690	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274763	1.00[AMR][1000 genomes]
rs12275826	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282634	0.83[AMR][1000 genomes]
rs12282851	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283056	1.00[AMR][1000 genomes]
rs12284445	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284546	0.83[AFR][1000 genomes]
rs12285582	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286106	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286762	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287003	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287355	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287649	0.94[AFR][1000 genomes]
rs12290300	1.00[AMR][1000 genomes]
rs12292708	0.86[AFR][1000 genomes]
rs12293258	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294777	1.00[AMR][1000 genomes]
rs3730309	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730310	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4370946	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61758504	1.00[AMR][1000 genomes]
rs7111472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7128315	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7478885	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7928575	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945629	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs948988	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv365	chr11:66852591-66879246	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv975118	chr11:66862674-66874347	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66867000-66873400	Weak transcription	Right Atrium	heart
2	chr11:66867800-66880800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:66871600-66884200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:66871800-66875000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:66871800-66875000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:66871800-66880400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:66872200-66875000	Weak transcription	K562	blood
8	chr11:66872600-66873400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:66872800-66873400	Enhancers	GM12878-XiMat	blood
10	chr11:66873000-66873400	Weak transcription	Fetal Thymus	thymus

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