Variant report

Variant	rs3987943
Chromosome Location	chr7:102690141-102690142
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10224485	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224625	0.87[AMR][1000 genomes]
rs10233506	0.81[AFR][1000 genomes]
rs10233912	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251394	1.00[AMR][1000 genomes]
rs10261182	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10808121	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12671524	0.93[AFR][1000 genomes]
rs1524419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1916990	0.93[AFR][1000 genomes]
rs2177550	0.91[AFR][1000 genomes]
rs2411084	1.00[AMR][1000 genomes]
rs28439727	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28881872	1.00[AMR][1000 genomes]
rs4576360	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4729867	0.86[AFR][1000 genomes]
rs4999173	1.00[AMR][1000 genomes]
rs6465888	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7341515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7357142	1.00[AMR][1000 genomes]
rs7455410	0.87[AFR][1000 genomes]
rs7805950	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7806691	0.81[AFR][1000 genomes]
rs7809075	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9886322	1.00[AMR][1000 genomes]

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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv1793320	chr7:102677917-102706209	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102679200-102713800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:102683400-102695800	Weak transcription	Fetal Kidney	kidney
3	chr7:102684200-102690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:102684200-102708000	Weak transcription	Pancreas	Pancrea
5	chr7:102688800-102691000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:102690000-102691400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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