Variant report

Variant	rs7989765
Chromosome Location	chr13:48451099-48451100
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10397	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[TSI][hapmap];0.90[ASN][1000 genomes]
rs13243	0.90[ASN][1000 genomes]
rs2094196	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4331249	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942711	0.92[EUR][1000 genomes]
rs56385117	0.90[ASN][1000 genomes]
rs7324919	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7326861	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs7331746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335662	1.00[CHB][hapmap]
rs7335869	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7337521	1.00[CHB][hapmap]
rs7339238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981492	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs7981902	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7984527	0.85[EUR][1000 genomes]
rs7993196	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534872	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562772	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562780	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562781	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562784	0.90[ASN][1000 genomes]
rs9562785	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs9562791	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs9567939	0.91[EUR][1000 genomes]
rs9567944	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567945	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567946	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567956	0.90[ASN][1000 genomes]
rs9567971	1.00[CHB][hapmap]
rs9567975	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs9567977	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs9567978	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs9567982	1.00[CHB][hapmap]
rs9567990	1.00[CHB][hapmap]
rs9634811	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7989765	SUCLA2	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48449000-48464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:48450800-48451800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:48451000-48451800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr13:48451000-48451800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:48451000-48480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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