Variant report

Variant	rs12225143
Chromosome Location	chr11:9342902-9342903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9342230..9344286-chr11:9481577..9483674,2	K562	blood:
2	chr11:9342054..9343800-chr11:9362686..9364403,2	MCF-7	breast:
3	chr11:9337780..9339407-chr11:9342681..9345618,2	MCF-7	breast:
4	chr11:9340099..9343454-chr11:9406076..9407743,3	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10743100	1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10770018	0.84[AFR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs1809855	1.00[EUR][1000 genomes]
rs1874821	1.00[EUR][1000 genomes]
rs2016375	1.00[EUR][1000 genomes]
rs4243946	1.00[EUR][1000 genomes]
rs4331093	1.00[EUR][1000 genomes]
rs4414214	1.00[EUR][1000 genomes]
rs4420271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4450172	1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[EUR][1000 genomes]
rs4625467	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	1.00[EUR][1000 genomes]
rs56306422	1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	1.00[EUR][1000 genomes]
rs58309260	1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[EUR][1000 genomes]
rs59398820	1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[EUR][1000 genomes]
rs59984721	1.00[EUR][1000 genomes]
rs60542289	1.00[EUR][1000 genomes]
rs60602151	1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[EUR][1000 genomes]
rs61409427	1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73402319	1.00[EUR][1000 genomes]
rs73402323	1.00[EUR][1000 genomes]
rs73402339	1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[EUR][1000 genomes]
rs73402362	1.00[EUR][1000 genomes]
rs73402399	1.00[EUR][1000 genomes]
rs73404303	1.00[EUR][1000 genomes]
rs73404305	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7931491	1.00[EUR][1000 genomes]
rs7932136	1.00[EUR][1000 genomes]
rs7932954	1.00[EUR][1000 genomes]
rs7935518	1.00[EUR][1000 genomes]
rs7942119	1.00[EUR][1000 genomes]
rs7944130	1.00[EUR][1000 genomes]
rs7944713	1.00[EUR][1000 genomes]
rs7948651	1.00[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	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
7	nsv521969	chr11:9334961-9379005	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9337000-9350600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:9337200-9350400	Weak transcription	HSMMtube	muscle
3	chr11:9342000-9344000	Weak transcription	A549	lung
4	chr11:9342000-9345400	Weak transcription	HepG2	liver

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