Variant report

Variant	rs6428164
Chromosome Location	chr1:193307168-193307169
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193301837..193303548-chr1:193305413..193307169,2	K562	blood:
2	chr1:193301837..193303845-chr1:193305549..193307169,2	K562	blood:
3	chr1:193152206..193152849-chr1:193306909..193307798,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16835301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056062	0.84[AFR][1000 genomes]
rs56238040	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57648443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57963089	1.00[AMR][1000 genomes]
rs60899083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61090037	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681856	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701516	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130951	1.00[AMR][1000 genomes]
rs74130952	1.00[AMR][1000 genomes]
rs74130953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130958	1.00[AMR][1000 genomes]
rs74130959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130965	1.00[AMR][1000 genomes]
rs74130966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130967	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130968	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130969	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130970	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130971	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130972	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541789	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542285	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542739	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193303800-193308000	Enhancers	HSMM	muscle
2	chr1:193304800-193307400	Enhancers	HSMMtube	muscle
3	chr1:193305400-193307200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:193305600-193307200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:193305600-193307200	Weak transcription	Fetal Lung	lung
6	chr1:193305800-193317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:193306600-193308000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:193306600-193308200	Enhancers	NHDF-Ad	bronchial
9	chr1:193306800-193308200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:193306800-193309000	Enhancers	Osteobl	bone
11	chr1:193307000-193307200	Enhancers	Fetal Intestine Large	intestine
12	chr1:193307000-193307400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:193307000-193307400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:193307000-193307400	Enhancers	Fetal Intestine Small	intestine
15	chr1:193307000-193307600	Enhancers	GM12878-XiMat	blood
16	chr1:193307000-193308200	Enhancers	NHLF	lung

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