Variant report

Variant	rs4454228
Chromosome Location	chr7:98753158-98753159
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	chr7:98752785..98755054-chr7:98755672..98757585,2	MCF-7	breast:
2	chr7:98738735..98743436-chr7:98753010..98762849,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction

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

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

rs_ID	r²[population]
rs10248890	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10254104	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10266364	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11764542	0.98[EUR][1000 genomes]
rs1918019	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1918020	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1918021	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2395022	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2395048	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2395049	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2395050	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2395051	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2894224	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60083526	0.98[EUR][1000 genomes]
rs62473047	0.93[EUR][1000 genomes]
rs6465739	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6956645	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6961749	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6962075	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6969313	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975245	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147614	0.86[EUR][1000 genomes]
rs73147619	0.98[EUR][1000 genomes]
rs73147622	0.98[EUR][1000 genomes]
rs73147625	0.98[EUR][1000 genomes]
rs73147628	0.98[EUR][1000 genomes]
rs73147630	0.98[EUR][1000 genomes]
rs73147632	0.98[EUR][1000 genomes]
rs73147639	0.93[EUR][1000 genomes]
rs73147651	0.88[EUR][1000 genomes]
rs73147652	0.86[EUR][1000 genomes]
rs73147654	0.86[EUR][1000 genomes]
rs73147655	0.86[EUR][1000 genomes]
rs7788750	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][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	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active 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	30 gene(s)	inside rSNPs	diseases
3	esv2755119	chr7:98721885-98800145	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98752200-98753200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:98752200-98754000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:98752400-98753200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:98752800-98753200	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:98752800-98753800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:98752800-98753800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:98753000-98759800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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