Variant report

Variant	rs690286
Chromosome Location	chr9:98796967-98796968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:98796108..98797684-chr9:98831622..98833593,2	K562	blood:
2	chr9:98793079..98797604-chr9:98797988..98801744,7	MCF-7	breast:
3	chr9:98790389..98794152-chr9:98794649..98798124,5	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10115110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10117340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10512242	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10512245	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10739705	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10760189	0.81[AMR][1000 genomes]
rs10760679	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10818899	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10819650	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10819663	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10819668	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10819720	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10985156	0.80[AMR][1000 genomes]
rs10987963	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10988755	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10988817	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10989035	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1195130	0.94[AMR][1000 genomes]
rs11998982	0.81[AMR][1000 genomes]
rs12340954	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12345187	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12347675	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12348051	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12349742	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1327996	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1327997	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13298093	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13299166	0.81[AMR][1000 genomes]
rs1556026	0.91[EUR][1000 genomes]
rs2026031	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2296858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2405372	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2943532	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs589362	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs596413	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs603947	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs609296	0.85[AMR][1000 genomes]
rs617187	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs623438	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs624075	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs625105	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62559026	0.85[AMR][1000 genomes]
rs62559767	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs640297	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs649819	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs657451	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs666093	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs667705	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs671058	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs682682	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs684455	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs686048	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs689619	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs689696	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs689697	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs689710	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs689738	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs689744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs689761	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs689804	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs689860	0.81[AMR][1000 genomes]
rs689911	0.82[AMR][1000 genomes]
rs689986	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs690056	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs690063	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs690495	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs690528	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs690633	0.90[AMR][1000 genomes]
rs694230	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7847393	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7847983	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs816682	0.82[AMR][1000 genomes]
rs816683	0.81[AMR][1000 genomes]
rs816684	0.81[AMR][1000 genomes]
rs966217	0.94[AMR][1000 genomes];0.84[EUR][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	nsv893599	chr9:98542410-98991254	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv524266	chr9:98780606-98804274	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs690286	ERCC6L2	cis	Adipose Subcutaneous	GTEx
rs690286	ERCC6L2	cis	Artery Tibial	GTEx
rs690286	C9orf130	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98790800-98810800	Weak transcription	Brain Angular Gyrus	brain
2	chr9:98793600-98800800	Weak transcription	Brain Substantia Nigra	brain
3	chr9:98793600-98804600	Weak transcription	Fetal Heart	heart
4	chr9:98794200-98797000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:98794400-98797800	Weak transcription	Fetal Lung	lung
6	chr9:98794400-98801000	Weak transcription	Colon Smooth Muscle	Colon
7	chr9:98794600-98799400	Weak transcription	Pancreas	Pancrea
8	chr9:98796400-98798200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:98796800-98797800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:98796800-98802000	Weak transcription	Stomach Smooth Muscle	stomach

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