Variant report

Variant	rs11179027
Chromosome Location	chr12:72377312-72377313
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:72376625..72379148-chr12:72379464..72381160,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1023989	0.81[EUR][1000 genomes]
rs1023990	0.81[EUR][1000 genomes]
rs10506645	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs10506646	0.84[CEU][hapmap]
rs10879345	0.86[JPT][hapmap]
rs10879346	0.86[JPT][hapmap]
rs10879350	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10879351	0.86[JPT][hapmap]
rs11179002	0.89[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs11179023	0.94[CEU][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11179033	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs11179034	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11179039	0.91[JPT][hapmap]
rs11834097	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11834114	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12229394	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs12301662	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322900	0.86[JPT][hapmap]
rs1352250	0.91[JPT][hapmap]
rs1386491	0.80[EUR][1000 genomes]
rs1487278	0.84[CEU][hapmap]
rs1532008	0.91[JPT][hapmap]
rs17110477	0.84[CEU][hapmap]
rs17110489	0.84[CEU][hapmap]
rs17110532	0.81[EUR][1000 genomes]
rs17110536	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs17110540	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs17110627	0.84[CEU][hapmap]
rs17110690	0.84[CEU][hapmap]
rs1843811	0.95[JPT][hapmap]
rs2129575	0.84[TSI][hapmap]
rs2129576	0.81[EUR][1000 genomes]
rs2171363	0.86[JPT][hapmap]
rs2368049	0.90[JPT][hapmap]
rs4641528	0.91[JPT][hapmap]
rs4760750	0.95[JPT][hapmap]
rs4760754	0.91[JPT][hapmap]
rs4760755	0.91[JPT][hapmap]
rs4760816	0.95[JPT][hapmap]
rs4760817	0.95[JPT][hapmap]
rs55851729	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57706328	0.81[EUR][1000 genomes]
rs59895192	0.81[EUR][1000 genomes]
rs6582073	0.95[JPT][hapmap]
rs6582077	0.91[JPT][hapmap]
rs6582078	0.86[JPT][hapmap]
rs67472746	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67752672	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305115	0.95[JPT][hapmap]
rs7309686	0.95[JPT][hapmap]
rs73142553	0.81[EUR][1000 genomes]
rs73144406	0.81[EUR][1000 genomes]
rs73144416	0.81[EUR][1000 genomes]
rs7963720	0.95[JPT][hapmap]
rs7967686	0.91[JPT][hapmap]
rs7969114	0.95[JPT][hapmap]
rs7979770	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1036178	chr12:72361408-72378599	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72375000-72377400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:72375000-72383200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:72375200-72377600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:72376200-72377600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:72376200-72377800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:72376400-72377800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:72376400-72377800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:72376400-72377800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:72376600-72377400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:72376800-72377400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:72377000-72377800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:72377200-72377800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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