Variant report

Variant	rs2283089
Chromosome Location	chr7:126719978-126719979
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	chr7:126719826..126721988-chr7:126731679..126734281,2	K562	blood:
2	chr7:126718359..126720333-chr7:126729809..126731677,2	K562	blood:

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10268335	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs10487464	0.91[CHB][hapmap]
rs10487465	0.91[CHB][hapmap];1.00[CHD][hapmap]
rs10487466	0.91[CHB][hapmap];1.00[CHD][hapmap]
rs11563503	0.91[CHB][hapmap]
rs11563505	0.91[CHB][hapmap];1.00[CHD][hapmap]
rs11563705	0.93[YRI][hapmap]
rs11563718	0.93[YRI][hapmap]
rs11563724	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11563749	0.91[CHB][hapmap]
rs11563750	0.91[CHB][hapmap]
rs11563755	0.91[CHB][hapmap]
rs11563756	0.91[CHB][hapmap]
rs11563757	0.91[CHB][hapmap]
rs11563758	0.91[CHB][hapmap]
rs11563760	0.91[CHB][hapmap]
rs11563761	0.91[CHB][hapmap]
rs11563762	0.91[CHB][hapmap]
rs11563764	0.91[CHB][hapmap]
rs11563765	0.91[CHB][hapmap]
rs11563766	0.91[CHB][hapmap];1.00[CHD][hapmap]
rs11563767	0.91[CHB][hapmap]
rs11563771	0.91[CHB][hapmap]
rs11563772	0.91[CHB][hapmap]
rs11563773	0.91[CHB][hapmap];1.00[CHD][hapmap]
rs11563774	0.91[CHB][hapmap]
rs11563787	0.91[CHB][hapmap]
rs11563788	0.91[CHB][hapmap]
rs11982266	1.00[YRI][hapmap]
rs12113383	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12113542	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12667596	0.91[CHB][hapmap]
rs12670200	0.91[CHB][hapmap]
rs12670241	0.91[CHB][hapmap]
rs12670940	0.91[CHB][hapmap]
rs17150591	0.96[YRI][hapmap]
rs17862273	0.91[CHB][hapmap]
rs17862275	0.91[CHB][hapmap]
rs17862277	0.91[CHB][hapmap]
rs17863198	0.91[CHB][hapmap]
rs17864094	0.91[CHB][hapmap]
rs17866351	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs17866413	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs17866880	1.00[YRI][hapmap]
rs17867742	0.91[CHB][hapmap]
rs17867745	0.91[CHB][hapmap]
rs17868694	0.91[CHB][hapmap]
rs17869423	1.00[YRI][hapmap]
rs17869595	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2106190	0.89[MKK][hapmap];0.93[YRI][hapmap]
rs2237781	0.91[CHB][hapmap]
rs3779538	0.91[CHB][hapmap];1.00[CHD][hapmap]
rs3808129	0.91[CHB][hapmap]
rs3808130	0.91[CHB][hapmap]
rs6467106	0.91[CHB][hapmap]
rs6467107	0.91[CHB][hapmap]
rs6467108	0.89[CHB][hapmap]
rs6467109	0.90[CHB][hapmap]
rs6467112	0.84[AFR][1000 genomes]
rs6958100	1.00[YRI][hapmap]
rs6958658	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs6961743	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6962580	0.91[CHB][hapmap]
rs6965269	1.00[YRI][hapmap]
rs7795745	0.91[CHB][hapmap]

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	nsv831121	chr7:126593363-126774413	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2761367	chr7:126717157-126865324	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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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