Variant report

Variant	rs73331258
Chromosome Location	chr20:25073089-25073090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11907478	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34686349	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57332663	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59758051	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331265	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331270	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331271	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331274	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331276	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331298	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331300	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333187	1.00[AMR][1000 genomes]
rs73333194	1.00[AMR][1000 genomes]
rs8122926	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases
8	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription 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 miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25069800-25073200	Flanking Active TSS	Dnd41	blood
2	chr20:25070000-25073400	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr20:25070000-25073600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr20:25070400-25073200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr20:25070400-25073200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr20:25070600-25073400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr20:25071400-25073600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr20:25071800-25073200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr20:25071800-25073200	Enhancers	Fetal Thymus	thymus
10	chr20:25071800-25073400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr20:25072000-25073200	Enhancers	Primary T cells from cord blood	blood
12	chr20:25072000-25073400	Enhancers	Thymus	Thymus
13	chr20:25072000-25073600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr20:25072400-25073200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:25072800-25073200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr20:25073000-25073200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr20:25073000-25073200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr20:25073000-25073200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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