Variant report

Variant	rs71599666
Chromosome Location	chr4:55905060-55905061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13105577	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13111365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34003005	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34222805	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34728762	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35095184	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56180527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56404029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62306413	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs62306414	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6826167	0.84[EUR][1000 genomes]
rs71599665	0.83[AMR][1000 genomes];0.97[EUR][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	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv829939	chr4:55856771-56005011	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv432603	chr4:55877236-55970782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv524342	chr4:55891531-55921535	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55901800-55905400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:55902800-55905200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr4:55903400-55905200	Weak transcription	Aorta	Aorta
4	chr4:55903600-55905400	Enhancers	Fetal Lung	lung
5	chr4:55904000-55905400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:55904200-55905200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:55904200-55905200	Enhancers	Adipose Nuclei	Adipose
8	chr4:55904200-55905400	Enhancers	Left Ventricle	heart
9	chr4:55904400-55905400	Enhancers	Stomach Smooth Muscle	stomach
10	chr4:55904600-55905200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:55904800-55905200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr4:55904800-55905400	Enhancers	Psoas Muscle	Psoas
13	chr4:55904800-55905400	Enhancers	Right Atrium	heart
14	chr4:55905000-55905200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:55905000-55906200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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

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