Variant report

Variant	rs2454197
Chromosome Location	chr1:179724091-179724092
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179723816..179726381-chr1:179730633..179732680,2	K562	blood:
2	chr1:179713754..179715803-chr1:179723110..179724876,2	K562	blood:
3	chr1:179720423..179722014-chr1:179723830..179726146,2	K562	blood:
4	chr1:179715653..179718045-chr1:179722223..179724406,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1052447	0.87[ASN][1000 genomes]
rs10798718	0.87[ASN][1000 genomes]
rs10798719	0.86[ASN][1000 genomes]
rs10798720	0.86[ASN][1000 genomes]
rs10798721	0.86[ASN][1000 genomes]
rs10913874	0.87[ASN][1000 genomes]
rs10913876	0.87[ASN][1000 genomes]
rs10913877	0.87[ASN][1000 genomes]
rs10913878	0.87[ASN][1000 genomes]
rs10913879	0.86[ASN][1000 genomes]
rs11588754	0.93[ASN][1000 genomes]
rs12047821	0.86[ASN][1000 genomes]
rs12408874	0.87[ASN][1000 genomes]
rs12408882	0.87[ASN][1000 genomes]
rs2245195	0.87[ASN][1000 genomes]
rs2245610	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245702	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2318389	0.87[ASN][1000 genomes]
rs2454195	0.87[ASN][1000 genomes]
rs2454196	0.87[ASN][1000 genomes]
rs2487739	0.90[ASN][1000 genomes]
rs2487740	0.87[ASN][1000 genomes]
rs2487746	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2504032	0.91[ASN][1000 genomes]
rs2504033	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2504035	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2504038	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504039	0.87[ASN][1000 genomes]
rs2504040	0.87[ASN][1000 genomes]
rs2504041	0.87[ASN][1000 genomes]
rs2504042	0.87[ASN][1000 genomes]
rs2504043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2504048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2504049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2504053	0.81[ASN][1000 genomes]
rs3845381	0.87[ASN][1000 genomes]
rs3845382	0.83[ASN][1000 genomes]
rs3845383	0.83[ASN][1000 genomes]
rs3856045	0.87[ASN][1000 genomes]
rs3909014	0.88[ASN][1000 genomes]
rs3909015	0.87[ASN][1000 genomes]
rs4469684	0.87[ASN][1000 genomes]
rs4511077	0.87[ASN][1000 genomes]
rs4651050	0.84[ASN][1000 genomes]
rs60556788	0.85[ASN][1000 genomes]
rs61828370	0.86[ASN][1000 genomes]
rs6663482	0.87[ASN][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	nsv1009961	chr1:179714247-179790110	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv33942	chr1:179722838-179724322	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179723600-179727600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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