Variant report

Variant	rs1235206
Chromosome Location	chr2:168449852-168449853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10177694	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10182563	0.80[EUR][1000 genomes]
rs10182569	0.81[EUR][1000 genomes]
rs10195156	0.81[EUR][1000 genomes]
rs1079438	0.94[ASN][1000 genomes]
rs1079439	0.94[ASN][1000 genomes]
rs1079440	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10930274	0.80[EUR][1000 genomes]
rs1227106	0.92[ASN][1000 genomes]
rs1227122	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1236836	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1237905	0.83[EUR][1000 genomes]
rs12612088	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13398335	0.80[EUR][1000 genomes]
rs13427510	0.83[EUR][1000 genomes]
rs1367919	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1367921	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1431901	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1615054	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1617451	0.80[EUR][1000 genomes]
rs1653385	0.80[EUR][1000 genomes]
rs1653432	0.82[EUR][1000 genomes]
rs1730726	0.94[ASN][1000 genomes]
rs1821135	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1835746	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1852903	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1852904	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667958	0.92[ASN][1000 genomes]
rs4667959	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6733068	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6743050	0.84[EUR][1000 genomes]
rs73013383	0.83[EUR][1000 genomes]
rs734283	0.93[ASN][1000 genomes]
rs734284	0.94[ASN][1000 genomes]
rs735424	0.94[ASN][1000 genomes]
rs7576381	0.80[EUR][1000 genomes]
rs7590728	0.81[EUR][1000 genomes]
rs891741	0.94[ASN][1000 genomes]
rs891742	0.94[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	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1008206	chr2:168401249-168452887	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv583593	chr2:168402224-168452630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1004326	chr2:168403386-168452887	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1235206	UBR3	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168441600-168452600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:168449400-168451600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:168449400-168452400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:168449600-168451600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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