Variant report

Variant	rs56131196
Chromosome Location	chr19:45422846-45422847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10414043	0.93[ASN][1000 genomes]
rs12721046	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12721051	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429358	0.83[ASN][1000 genomes]
rs4420638	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256200	0.93[ASN][1000 genomes]
rs73052335	0.96[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	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak 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	17 gene(s)	inside rSNPs	diseases
3	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv3413514	chr19:45418155-45430302	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3360992	chr19:45418805-45430721	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Alzheimer's disease biomarkers	23419831	GWAS catalog

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45418800-45427400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:45418800-45427600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:45418800-45427600	Weak transcription	Spleen	Spleen
4	chr19:45418800-45430000	Weak transcription	Right Atrium	heart
5	chr19:45419000-45429800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr19:45419600-45425400	Weak transcription	Placenta	Placenta
7	chr19:45420600-45423600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:45422200-45423000	Strong transcription	A549	lung
9	chr19:45422400-45424200	Enhancers	Liver	Liver
10	chr19:45422600-45423600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:45422800-45423400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:45422800-45424400	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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