Variant report

Variant	rs7705947
Chromosome Location	chr5:88331710-88331711
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12653655	1.00[AMR][1000 genomes]
rs12654335	1.00[AMR][1000 genomes]
rs12657575	1.00[AMR][1000 genomes]
rs12659254	1.00[AMR][1000 genomes]
rs1833588	1.00[AMR][1000 genomes]
rs34324795	1.00[AMR][1000 genomes]
rs60081637	1.00[AMR][1000 genomes]
rs60218625	1.00[AMR][1000 genomes]
rs6452807	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6452810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6866142	0.85[AFR][1000 genomes]
rs6886996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6890064	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv532160	chr5:88150666-88564477	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv830386	chr5:88245911-88420582	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88324400-88336600	Weak transcription	Right Atrium	heart
2	chr5:88325200-88332000	Weak transcription	NHDF-Ad	bronchial
3	chr5:88330000-88332800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:88330400-88334400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:88330600-88331800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:88330600-88332000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:88330600-88332200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:88330600-88332200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:88330800-88331800	Weak transcription	HMEC	breast
10	chr5:88330800-88334000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:88330800-88336800	Weak transcription	Aorta	Aorta
12	chr5:88331200-88332200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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