Variant report

Variant	rs62180389
Chromosome Location	chr2:180629688-180629689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180628587..180630294-chr2:180645560..180647157,2	K562	blood:
2	chr2:180628206..180630948-chr2:180635078..180637285,2	K562	blood:
3	chr2:180627157..180629783-chr2:180633092..180634769,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17774088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2171190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4390734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4556941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4558554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180369	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180372	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180373	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180377	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180379	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180380	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180382	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180386	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180391	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180393	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180408	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62181522	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62181527	0.87[AMR][1000 genomes];1.00[EUR][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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180623600-180630200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:180625400-180630000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:180629400-180631200	Weak transcription	Liver	Liver
4	chr2:180629600-180630600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:180629600-180633200	Weak transcription	Stomach Smooth Muscle	stomach

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