Variant report

Variant	rs55743078
Chromosome Location	chr11:62696138-62696139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12275975	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931336	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931343	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931349	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931356	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931371	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931384	0.88[EUR][1000 genomes]
rs72933464	1.00[ASN][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription 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	263 gene(s)	inside rSNPs	diseases
4	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62694000-62697400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:62694000-62697600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr11:62694400-62696200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:62694800-62696600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:62695200-62696200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr11:62695200-62696200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr11:62695400-62696800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr11:62695800-62696200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr11:62695800-62696200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr11:62695800-62696200	Enhancers	Spleen	Spleen
11	chr11:62695800-62696600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:62695800-62699600	Enhancers	Brain Germinal Matrix	brain
13	chr11:62696000-62699000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:62696000-62701400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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

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