Variant report

Variant	rs73494164
Chromosome Location	chr11:63689628-63689629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2133546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320107	0.90[AFR][1000 genomes]
rs320122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320125	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320130	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320132	1.00[AFR][1000 genomes]
rs320146	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320152	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56892076	0.83[AFR][1000 genomes]
rs60588765	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7106110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494180	0.91[AFR][1000 genomes]
rs73494188	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948086	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
9	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897637	chr11:63676067-63691049	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63688000-63690200	Weak transcription	Esophagus	oesophagus
2	chr11:63688200-63690600	Enhancers	Fetal Intestine Small	intestine
3	chr11:63688200-63691000	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:63688600-63690400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:63688800-63690600	Weak transcription	K562	blood
6	chr11:63688800-63692200	Weak transcription	Ovary	ovary
7	chr11:63689000-63690200	Weak transcription	Fetal Intestine Large	intestine
8	chr11:63689000-63690200	Weak transcription	Right Ventricle	heart
9	chr11:63689000-63690400	Weak transcription	Spleen	Spleen
10	chr11:63689200-63690200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:63689200-63690400	Weak transcription	Fetal Heart	heart
12	chr11:63689200-63692600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:63689600-63690600	Enhancers	Placenta	Placenta

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dbSNP/dbVar ID: rs12345 /nsv7879
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