Variant report

Variant	rs2050378
Chromosome Location	chr13:54755398-54755399
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12427903	0.97[EUR][1000 genomes]
rs12429828	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429973	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12430260	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1335981	1.00[ASN][1000 genomes]
rs1414543	1.00[ASN][1000 genomes]
rs1577577	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17089302	0.92[AFR][1000 genomes]
rs17089308	0.92[AFR][1000 genomes]
rs17089310	0.92[AFR][1000 genomes]
rs17604306	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17667588	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17667614	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1855847	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889824	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960782	0.95[EUR][1000 genomes]
rs1984140	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984141	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065822	0.95[EUR][1000 genomes]
rs2152084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576122	0.95[EUR][1000 genomes]
rs2576124	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576125	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576126	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576127	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576128	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576129	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576131	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2576135	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576136	0.95[EUR][1000 genomes]
rs2576147	0.91[EUR][1000 genomes]
rs2784555	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784556	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784559	0.91[EUR][1000 genomes]
rs2784560	0.95[EUR][1000 genomes]
rs2784561	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784562	0.95[EUR][1000 genomes]
rs2784564	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784566	0.95[EUR][1000 genomes]
rs2784567	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784568	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784569	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784572	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883886	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4883887	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4884928	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs564930	0.85[AMR][1000 genomes]
rs57804893	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58112675	0.87[AFR][1000 genomes]
rs60572618	0.87[AFR][1000 genomes]
rs682930	0.82[EUR][1000 genomes]
rs684299	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs795647	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs795649	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs878942	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933101	0.91[EUR][1000 genomes]
rs988527	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988528	0.93[EUR][1000 genomes];1.00[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	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv561701	chr13:54711276-54826104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54750000-54757200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:54750400-54758000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:54751000-54757600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:54752400-54758000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:54754400-54757400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:54754600-54757400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:54754800-54757400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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