Variant report

Variant	rs9819137
Chromosome Location	chr3:56493678-56493679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1388257	0.84[AMR][1000 genomes]
rs1491169	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1552671	0.85[AMR][1000 genomes]
rs1878267	0.82[EUR][1000 genomes]
rs1878268	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1878270	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317065	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6776781	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs885211	0.84[ASN][1000 genomes]
rs923654	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9311602	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9831365	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9853704	0.84[AMR][1000 genomes]
rs9855289	0.81[CEU][hapmap];0.80[MEX][hapmap]
rs9858744	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9873381	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347557	chr3:56466500-56619322	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9819137	ERC2	cis	cerebellum	SCAN
rs9819137	ITIH1	cis	cerebellum	SCAN
rs9819137	C3orf51	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56492400-56493800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:56492400-56494000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:56492400-56494200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:56492600-56494000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:56492600-56494200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr3:56492600-56494200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:56492600-56494400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:56492600-56494400	Enhancers	Fetal Heart	heart
9	chr3:56492800-56494200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:56493200-56500200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:56493200-56500800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:56493200-56501200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:56493600-56494200	Enhancers	Fetal Lung	lung
14	chr3:56493600-56500600	Weak transcription	H1 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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