Variant report

Variant	rs4893848
Chromosome Location	chr2:179049910-179049911
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	chr2:179047545..179050126-chr2:179052607..179054172,2	K562	blood:
2	chr2:179048964..179050536-chr2:179089183..179092012,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10173229	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10930824	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10930826	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930827	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11883528	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11886090	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12185670	0.92[ASN][1000 genomes]
rs12471750	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12620314	0.90[ASN][1000 genomes]
rs12623701	0.94[ASN][1000 genomes]
rs12693153	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13001608	0.98[ASN][1000 genomes]
rs13004218	0.92[ASN][1000 genomes]
rs13004565	0.98[ASN][1000 genomes]
rs13007977	0.90[ASN][1000 genomes]
rs13390231	0.87[ASN][1000 genomes]
rs1374257	0.85[ASN][1000 genomes]
rs1900251	0.84[ASN][1000 genomes]
rs2116544	0.92[ASN][1000 genomes]
rs232042	0.82[EUR][1000 genomes]
rs3099472	0.82[EUR][1000 genomes]
rs334051	0.85[ASN][1000 genomes]
rs334081	0.82[EUR][1000 genomes]
rs34238455	0.92[ASN][1000 genomes]
rs34477946	0.92[ASN][1000 genomes]
rs35776135	0.92[ASN][1000 genomes]
rs4638831	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4893999	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4894000	0.87[ASN][1000 genomes]
rs4894001	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62176039	0.85[ASN][1000 genomes]
rs7583174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7591476	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7596504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179037000-179056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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