Variant report

Variant	rs1030483
Chromosome Location	chr16:71442416-71442417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12102284	0.87[AFR][1000 genomes]
rs12925320	0.89[CHB][hapmap]
rs16972292	0.84[YRI][hapmap]
rs2018719	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4788801	0.83[ASN][1000 genomes]
rs6499507	0.85[CHB][hapmap]
rs6499518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67771172	0.90[ASN][1000 genomes]
rs7202340	0.84[MKK][hapmap]
rs7203957	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7500119	0.88[ASN][1000 genomes]
rs891124	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	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
rs1030483	ZNF23	cis	parietal	SCAN
rs1030483	BEAN	cis	parietal	SCAN
rs1030483	B3GNT9	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71434800-71446600	Weak transcription	Right Atrium	heart
2	chr16:71436600-71446000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:71439200-71445800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:71441000-71442600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:71441600-71442600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr16:71441800-71446400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr16:71442400-71442800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:71442400-71443400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:71442400-71444000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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