Variant report

Variant	rs56030121
Chromosome Location	chr19:42029930-42029931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12327737	1.00[EUR][1000 genomes]
rs55777535	1.00[EUR][1000 genomes]
rs55786333	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58563692	1.00[EUR][1000 genomes]
rs59823881	1.00[EUR][1000 genomes]
rs60118562	1.00[EUR][1000 genomes]
rs7251392	1.00[AFR][1000 genomes]
rs73560846	1.00[EUR][1000 genomes]
rs73931497	1.00[EUR][1000 genomes]
rs73931501	1.00[EUR][1000 genomes]
rs73931502	1.00[EUR][1000 genomes]
rs73933641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73933642	1.00[AMR][1000 genomes]
rs73933645	1.00[AFR][1000 genomes]
rs73933647	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9973242	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510767	chr19:41962486-42049165	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv579601	chr19:42006714-42031592	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
8	nsv579602	chr19:42015468-42047924	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42029000-42032400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr19:42029000-42036200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:42029600-42034000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:42029600-42034200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr19:42029600-42034200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:42029600-42034200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:42029600-42034800	Weak transcription	Primary B cells from cord blood	blood
8	chr19:42029800-42033600	Weak transcription	GM12878-XiMat	blood
9	chr19:42029800-42034600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:42029800-42037600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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