Variant report

Variant	rs7032411
Chromosome Location	chr9:6354990-6354991
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	chr9:6352849..6355311-chr9:6679612..6682199,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10115294	0.82[EUR][1000 genomes]
rs10123605	0.82[EUR][1000 genomes]
rs10125313	0.82[EUR][1000 genomes]
rs10491838	0.86[AMR][1000 genomes]
rs10739096	0.82[EUR][1000 genomes]
rs10739103	0.93[AMR][1000 genomes]
rs10739104	0.87[AMR][1000 genomes]
rs10758763	0.93[AMR][1000 genomes]
rs10758768	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10815400	0.82[EUR][1000 genomes]
rs10815401	0.82[EUR][1000 genomes]
rs10815430	0.82[EUR][1000 genomes]
rs1322170	0.93[AMR][1000 genomes]
rs13283687	0.87[AMR][1000 genomes]
rs13284392	0.86[AMR][1000 genomes]
rs13285152	0.86[AMR][1000 genomes]
rs13285458	0.86[AMR][1000 genomes]
rs13291494	0.86[AMR][1000 genomes]
rs13293015	0.86[AMR][1000 genomes]
rs13293673	0.86[AMR][1000 genomes]
rs13296481	0.93[AMR][1000 genomes]
rs13298872	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13299896	0.93[AMR][1000 genomes]
rs13302032	0.86[AMR][1000 genomes]
rs1330381	0.82[EUR][1000 genomes]
rs28615746	0.82[EUR][1000 genomes]
rs34530211	0.86[AMR][1000 genomes]
rs34581400	0.93[AMR][1000 genomes]
rs35301257	0.86[AMR][1000 genomes]
rs35408061	0.93[AMR][1000 genomes]
rs36089474	0.86[AMR][1000 genomes]
rs4008347	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs424119	0.81[AMR][1000 genomes]
rs4742172	0.82[EUR][1000 genomes]
rs4742180	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4742198	0.93[AMR][1000 genomes]
rs4742200	0.93[AMR][1000 genomes]
rs4742203	0.93[AMR][1000 genomes]
rs503315	0.93[AMR][1000 genomes]
rs553048	0.93[AMR][1000 genomes]
rs7021445	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7031407	0.82[EUR][1000 genomes]
rs7035574	0.83[AMR][1000 genomes]
rs7036990	0.93[AMR][1000 genomes]
rs7039968	0.93[AMR][1000 genomes]
rs7040374	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7043824	0.93[AMR][1000 genomes]
rs7043887	0.82[EUR][1000 genomes]
rs7044749	0.93[AMR][1000 genomes]
rs72693587	0.93[AMR][1000 genomes]
rs7350177	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7851921	0.82[EUR][1000 genomes]
rs7852138	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7869419	0.81[AMR][1000 genomes]
rs7873206	0.82[EUR][1000 genomes]
rs922221	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs980849	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1029000	chr9:6188652-6687205	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv1031459	chr9:6216913-6657192	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv948562	chr9:6222553-6684955	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv1024324	chr9:6308178-6408875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1032350	chr9:6328167-6630686	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv1019222	chr9:6328242-6402856	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7032411	UHRF2	Cis_1M	lymphoblastoid	RTeQTL
rs7032411	C9orf38	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6351000-6355800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:6354000-6357200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:6354000-6357200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr9:6354000-6357400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:6354000-6357400	Enhancers	HMEC	breast
6	chr9:6354000-6357400	Enhancers	Osteobl	bone
7	chr9:6354000-6358200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:6354200-6355000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:6354400-6356800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:6354400-6357200	Enhancers	NHDF-Ad	bronchial
11	chr9:6354400-6357400	Enhancers	GM12878-XiMat	blood
12	chr9:6354400-6357400	Enhancers	NHLF	lung
13	chr9:6354600-6355200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:6354600-6357400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:6354600-6358000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:6354800-6355200	Weak transcription	Hela-S3	cervix
17	chr9:6354800-6355600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:6354800-6355800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:6354800-6355800	Weak transcription	HUVEC	blood vessel

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