Variant report

Variant	rs2387137
Chromosome Location	chr19:51137660-51137661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10423347	0.84[EUR][1000 genomes]
rs4239490	0.93[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6509493	0.80[AMR][1000 genomes]
rs7359910	0.80[AMR][1000 genomes]
rs8104662	0.80[AMR][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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1062281	chr19:51053340-51230844	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1062548	chr19:51081358-51230844	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2387137	SIGLEC10	cis	parietal	SCAN
rs2387137	SYT3	cis	Esophagus Mucosa	GTEx
rs2387137	GP6	cis	parietal	SCAN
rs2387137	BIRC8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51136400-51138000	ZNF genes & repeats	Brain Hippocampus Middle	brain
2	chr19:51136800-51137800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:51136800-51139000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:51137000-51139200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:51137200-51137800	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr19:51137400-51137800	ZNF genes & repeats	Brain Anterior Caudate	brain
7	chr19:51137400-51137800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
8	chr19:51137400-51137800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
9	chr19:51137400-51138000	ZNF genes & repeats	Brain Angular Gyrus	brain
10	chr19:51137600-51137800	ZNF genes & repeats	Pancreas	Pancrea

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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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