Variant report

Variant	rs4393639
Chromosome Location	chr18:11581751-11581752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12456517	1.00[EUR][1000 genomes]
rs1940932	1.00[EUR][1000 genomes]
rs1940933	1.00[EUR][1000 genomes]
rs57621243	1.00[EUR][1000 genomes]
rs60383364	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60534269	1.00[EUR][1000 genomes]
rs8091070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs994222	1.00[EUR][1000 genomes]
rs9954492	1.00[EUR][1000 genomes]
rs9955589	1.00[EUR][1000 genomes]
rs9959535	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv909381	chr18:11431945-11609487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv543652	chr18:11581166-11658400	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11578000-11586800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr18:11578400-11586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr18:11578800-11587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr18:11579000-11587000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr18:11579800-11582200	Enhancers	Dnd41	blood
6	chr18:11580400-11581800	Enhancers	Fetal Thymus	thymus
7	chr18:11580600-11581800	Enhancers	Primary T cells from cord blood	blood
8	chr18:11580800-11581800	Enhancers	GM12878-XiMat	blood
9	chr18:11581000-11586800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr18:11581600-11586000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr18:11581600-11586200	Weak transcription	Thymus	Thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
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