Variant report

Variant	rs11179015
Chromosome Location	chr12:72360777-72360778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:72360555..72364246-chr12:72365542..72367706,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10879344	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10879348	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11179003	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11179004	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11179017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179020	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11179022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11179024	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11179028	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11179031	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11179032	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11179041	0.81[AMR][1000 genomes]
rs11179043	0.81[AMR][1000 genomes]
rs11179044	0.81[AMR][1000 genomes]
rs11179045	0.81[AMR][1000 genomes]
rs11179047	0.81[AMR][1000 genomes]
rs12228247	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228278	0.81[AMR][1000 genomes]
rs12228879	0.90[AMR][1000 genomes]
rs12230512	0.81[AMR][1000 genomes]
rs12230557	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12231408	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12231731	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1386488	1.00[JPT][hapmap]
rs1386492	0.82[JPT][hapmap]
rs1386493	1.00[JPT][hapmap]
rs17840794	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1843810	0.82[JPT][hapmap]
rs61441298	0.81[AMR][1000 genomes]
rs6582072	1.00[JPT][hapmap]
rs7300641	0.82[JPT][hapmap]
rs73342842	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73342876	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342883	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73342886	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73344848	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73344850	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73344873	0.81[AMR][1000 genomes]
rs7978482	0.82[JPT][hapmap]

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	nsv1048478	chr12:72145703-72401712	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541530	chr12:72145703-72401712	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv518498	chr12:72307616-72508779	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1054578	chr12:72307616-72509341	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72353400-72362400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:72359600-72361800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:72359800-72361000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:72359800-72361200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:72360000-72361000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:72360200-72360800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:72360200-72361200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:72360200-72361400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:72360200-72361400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:72360400-72360800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:72360400-72361000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:72360400-72361400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:72360600-72361200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:72360600-72362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:72360600-72363400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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