Variant report

Variant	rs7930026
Chromosome Location	chr11:9013639-9013640
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	chr11:9010207..9011708-chr11:9012903..9015577,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10743093	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs10743095	0.82[EUR][1000 genomes]
rs10769967	0.92[CEU][hapmap]
rs10769970	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs10769973	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap]
rs10769978	0.84[EUR][1000 genomes]
rs10769979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769980	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769981	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840130	0.84[CEU][hapmap]
rs10840134	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs10840141	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs10840142	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs10840147	0.88[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap]
rs10840148	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap]
rs10840157	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10840158	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042078	0.88[CEU][hapmap]
rs11042103	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs11042125	0.95[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11042149	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs11042151	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11042152	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042154	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1109305	0.87[EUR][1000 genomes]
rs1123936	0.92[CEU][hapmap]
rs11603841	0.88[CEU][hapmap]
rs1529641	0.92[CEU][hapmap]
rs1560569	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs1980428	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1980429	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1984791	0.82[CHB][hapmap]
rs2012680	0.83[ASN][1000 genomes]
rs2012690	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2012696	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2016942	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2568020	0.84[ASN][1000 genomes]
rs2568043	0.92[CEU][hapmap]
rs2568045	0.92[CEU][hapmap]
rs2568061	0.92[CEU][hapmap]
rs2568065	0.92[CEU][hapmap]
rs2568090	0.92[CEU][hapmap]
rs2653570	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2653605	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2742471	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742474	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742480	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2742537	0.84[CEU][hapmap]
rs2742540	0.84[CEU][hapmap]
rs2742545	0.85[CEU][hapmap]
rs2742552	0.84[CEU][hapmap]
rs4909952	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910062	0.92[CEU][hapmap]
rs4910156	0.82[EUR][1000 genomes]
rs4910158	0.81[EUR][1000 genomes]
rs4910200	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910442	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4929922	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6486060	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7119939	0.96[CEU][hapmap]
rs7123429	0.92[CEU][hapmap]
rs7479407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7482838	0.84[ASN][1000 genomes]
rs7484180	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7925728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7937298	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs7945705	0.92[CEU][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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7930026	AKIP1	cis	Thyroid	GTEx
rs7930026	TMEM9B-AS1	cis	lung	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8989600-9019600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:8991800-9015600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:9001800-9015200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:9011000-9023200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:9011800-9023000	Weak transcription	NHDF-Ad	bronchial
6	chr11:9013200-9013800	Enhancers	K562	blood
7	chr11:9013200-9014000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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