Variant report

Variant	rs9591121
Chromosome Location	chr13:48490051-48490052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48480107..48482697-chr13:48488766..48491546,2	K562	blood:

Variant related genes	Relation type
ENSG00000234689	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10220099	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13378425	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2031775	1.00[GIH][hapmap]
rs2406701	0.91[EUR][1000 genomes]
rs28628659	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28794608	0.91[EUR][1000 genomes]
rs4496017	0.90[EUR][1000 genomes]
rs55845516	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6561423	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7317676	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7319779	0.91[EUR][1000 genomes]
rs7983350	1.00[GIH][hapmap]
rs840431	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs840434	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs9316341	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9591118	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9591119	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9591120	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9591122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9591124	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9591125	0.91[EUR][1000 genomes]
rs9591126	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9591128	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9595805	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9595806	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9595809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595810	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595814	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595816	1.00[EUR][1000 genomes]
rs9595819	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9595826	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9595827	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9595828	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9595830	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9595831	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9595832	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9595833	0.82[EUR][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	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
4	esv1803690	chr13:48470681-48508091	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9591121	SUCLA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48472200-48491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:48477000-48506400	Weak transcription	Psoas Muscle	Psoas
3	chr13:48478800-48491000	Weak transcription	Adipose Nuclei	Adipose
4	chr13:48478800-48491800	Weak transcription	Left Ventricle	heart
5	chr13:48478800-48492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:48481000-48493000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:48482800-48494400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:48486200-48492000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr13:48488000-48491000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:48489400-48492800	Weak transcription	Liver	Liver
11	chr13:48489600-48490200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:48490000-48490600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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