Variant report

Variant	rs7750087
Chromosome Location	chr6:81078499-81078500
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	chr6:81073810..81075490-chr6:81078179..81079720,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10455371	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10943705	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943706	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12207986	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1417742	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1436862	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436878	0.81[EUR][1000 genomes]
rs1819703	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1836962	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1856930	0.83[ASN][1000 genomes]
rs2099556	0.80[AMR][1000 genomes]
rs2118142	0.82[EUR][1000 genomes]
rs2153659	0.82[EUR][1000 genomes]
rs2164603	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2226079	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2322766	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6454155	0.83[EUR][1000 genomes]
rs6454157	0.82[AMR][1000 genomes]
rs6913997	0.81[EUR][1000 genomes]
rs6918504	0.80[EUR][1000 genomes]
rs7749267	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7754957	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7761777	0.81[EUR][1000 genomes]
rs7769344	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9343988	0.82[EUR][1000 genomes]
rs9350855	0.81[EUR][1000 genomes]
rs9359415	0.82[EUR][1000 genomes]
rs9361609	0.81[EUR][1000 genomes]
rs9448940	0.82[EUR][1000 genomes]
rs9448941	0.83[EUR][1000 genomes]
rs9448942	0.81[EUR][1000 genomes]
rs9448943	0.82[EUR][1000 genomes]
rs9448944	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	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv932996	chr6:80880896-81134991	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv497995	chr6:80883701-81134991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7750087	RP11-250B2.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81029400-81079600	Weak transcription	HSMM	muscle
2	chr6:81069200-81079800	Weak transcription	Pancreas	Pancrea

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