Variant report

Variant	rs6545145
Chromosome Location	chr2:50245211-50245212
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10191989	0.93[JPT][hapmap]
rs10192012	0.95[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs1035342	0.89[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10495995	0.90[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs12713084	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12987268	0.90[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13013447	0.90[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1819972	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs1895130	0.81[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1895131	0.89[ASN][1000 genomes]
rs2351152	0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2351153	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs4971634	0.89[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4971635	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4971636	0.89[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4971639	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4971640	0.82[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs6712970	0.89[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6736816	0.93[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs6746395	0.89[EUR][1000 genomes]
rs6754803	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7601845	0.82[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs768249	0.95[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap]
rs768250	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs9309173	0.89[ASN][1000 genomes]
rs9677968	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv581837	chr2:50230334-50268616	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011144	chr2:50231111-50270096	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv915588	chr2:50235306-50268306	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv431002	chr2:50243349-50259749	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50234200-50245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:50237800-50245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:50241200-50245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:50242600-50245400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:50242600-50246000	Enhancers	Brain Germinal Matrix	brain
6	chr2:50242800-50245400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:50244000-50246200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:50244200-50245400	Weak transcription	Fetal Brain Female	brain
9	chr2:50244600-50246600	Enhancers	Hela-S3	cervix
10	chr2:50245000-50246000	Enhancers	Brain Substantia Nigra	brain

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