Variant report

Variant	rs11971939
Chromosome Location	chr7:112005490-112005491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11971175	0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11971502	1.00[EUR][1000 genomes]
rs11973377	1.00[EUR][1000 genomes]
rs11973971	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11974703	1.00[EUR][1000 genomes]
rs11981674	1.00[EUR][1000 genomes]
rs11983419	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16873392	1.00[EUR][1000 genomes]
rs17159708	1.00[EUR][1000 genomes]
rs3109110	1.00[EUR][1000 genomes]
rs3109111	1.00[EUR][1000 genomes]
rs6466411	1.00[EUR][1000 genomes]
rs6961336	1.00[EUR][1000 genomes]
rs6971255	1.00[EUR][1000 genomes]
rs6974737	1.00[ASW][hapmap];0.83[LWK][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs73424473	1.00[EUR][1000 genomes]
rs7779086	1.00[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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 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	chr7:111998600-112006600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:111999600-112010800	Weak transcription	Right Atrium	heart
3	chr7:112001000-112007000	Weak transcription	Aorta	Aorta
4	chr7:112002800-112006800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:112003000-112006000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:112004400-112010000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:112004600-112006200	Weak transcription	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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