Variant report

Variant	rs11000657
Chromosome Location	chr10:53824612-53824613
allele	A/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:15)

rs_ID	r²[population]
rs10824006	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11000639	0.94[ASN][1000 genomes]
rs11000654	1.00[ASN][1000 genomes]
rs11000655	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11000703	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12217828	0.89[ASN][1000 genomes]
rs12778630	0.92[ASN][1000 genomes]
rs1904008	0.86[ASN][1000 genomes]
rs1904009	0.86[ASN][1000 genomes]
rs1904010	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1904027	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1904029	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4457701	0.93[ASN][1000 genomes]
rs7070173	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73342904	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1040754	chr10:53758289-53845925	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv550873	chr10:53811431-53838761	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv550874	chr10:53816171-53841105	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53814400-53842800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:53815000-53827000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:53817400-53830000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:53821000-53825800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:53821000-53828600	Weak transcription	Lung	lung
6	chr10:53821200-53826000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:53821200-53826000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:53822600-53825000	Weak transcription	Colonic Mucosa	Colon
9	chr10:53823800-53824800	Enhancers	Psoas Muscle	Psoas
10	chr10:53823800-53824800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr10:53824000-53825200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr10:53824000-53825600	Weak transcription	Fetal Muscle Leg	muscle
13	chr10:53824000-53838200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:53824200-53830200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:53824200-53835200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:53824400-53846200	Weak transcription	Aorta	Aorta
17	chr10:53824600-53826200	Weak transcription	Fetal Stomach	stomach

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

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