Variant report

Variant	rs72603594
Chromosome Location	chr7:116996200-116996201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115861595-115870968..7:116989154-116996677	GM12878	blood:
2	7:115924626-115929516..7:116989154-116996677	K562	blood:

Variant related genes	Relation type
ENSG00000237870	Chromatin interaction
ENSG00000105971	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10249651	0.91[ASN][1000 genomes]
rs10255917	0.95[ASN][1000 genomes]
rs10264075	0.91[ASN][1000 genomes]
rs10278130	0.95[ASN][1000 genomes]
rs1029396	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10953841	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10953843	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10953844	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10953845	0.90[ASN][1000 genomes]
rs10953846	0.90[ASN][1000 genomes]
rs11769166	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12333572	0.91[ASN][1000 genomes]
rs12537601	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13245795	0.85[ASN][1000 genomes]
rs177068	0.81[ASN][1000 genomes]
rs177070	0.80[ASN][1000 genomes]
rs2027946	0.85[EUR][1000 genomes]
rs2051714	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2051718	0.91[ASN][1000 genomes]
rs2078967	0.85[ASN][1000 genomes]
rs2188158	0.91[EUR][1000 genomes]
rs2188555	0.88[ASN][1000 genomes]
rs2237721	0.97[EUR][1000 genomes]
rs2237725	0.91[EUR][1000 genomes]
rs2239957	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2283054	0.97[EUR][1000 genomes]
rs254536	0.85[ASN][1000 genomes]
rs2896224	0.85[ASN][1000 genomes]
rs34256873	0.81[ASN][1000 genomes]
rs34456592	0.91[EUR][1000 genomes]
rs3926643	0.91[ASN][1000 genomes]
rs39312	0.84[ASN][1000 genomes]
rs39315	0.84[ASN][1000 genomes]
rs39317	0.83[ASN][1000 genomes]
rs39324	0.85[ASN][1000 genomes]
rs4148682	0.97[EUR][1000 genomes]
rs4148698	0.91[EUR][1000 genomes]
rs4148703	0.91[EUR][1000 genomes]
rs4148709	0.80[EUR][1000 genomes]
rs43025	0.81[ASN][1000 genomes]
rs43027	0.81[ASN][1000 genomes]
rs43028	0.81[ASN][1000 genomes]
rs43029	0.81[ASN][1000 genomes]
rs43030	0.81[ASN][1000 genomes]
rs43031	0.80[ASN][1000 genomes]
rs43032	0.81[ASN][1000 genomes]
rs43033	0.81[ASN][1000 genomes]
rs43034	0.83[ASN][1000 genomes]
rs4458806	0.83[ASN][1000 genomes]
rs4727849	0.92[ASN][1000 genomes]
rs4727850	0.93[ASN][1000 genomes]
rs4730786	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6466614	0.80[EUR][1000 genomes]
rs6960356	0.91[ASN][1000 genomes]
rs6966836	0.93[ASN][1000 genomes]
rs6966838	0.87[ASN][1000 genomes]
rs6972168	0.86[ASN][1000 genomes]
rs6979185	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72603595	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7357267	0.91[ASN][1000 genomes]
rs739517	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7784156	0.90[ASN][1000 genomes]
rs7797163	0.92[EUR][1000 genomes]
rs7803222	0.85[EUR][1000 genomes]
rs7805063	0.88[ASN][1000 genomes]
rs7808424	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9792104	0.84[ASN][1000 genomes]
rs989727	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs994996	0.89[ASN][1000 genomes]
rs994997	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608256	chr7:116928371-117040117	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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