Variant report

Variant	rs2025947
Chromosome Location	chr13:93975531-93975532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93975150..93977138-chr13:93989003..93991236,2	K562	blood:
2	chr13:93963378..93968505-chr13:93974566..93977658,4	K562	blood:
3	chr13:93974210..93976975-chr13:93986030..93988767,2	K562	blood:
4	chr13:93961269..93969594-chr13:93973410..93977735,11	K562	blood:
5	chr13:93975407..93977294-chr13:93983328..93985446,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11618902	0.82[JPT][hapmap]
rs11618940	0.82[JPT][hapmap]
rs11619144	0.82[JPT][hapmap]
rs1359198	1.00[CEU][hapmap]
rs1359199	0.83[JPT][hapmap]
rs1445266	1.00[CEU][hapmap]
rs17234460	1.00[CEU][hapmap]
rs17300206	1.00[CEU][hapmap]
rs1980727	0.91[CEU][hapmap]
rs2038727	1.00[CEU][hapmap]
rs2762082	0.91[CEU][hapmap]
rs3814277	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4771875	1.00[CEU][hapmap]
rs4773745	1.00[CEU][hapmap]
rs4773747	1.00[CEU][hapmap]
rs72639035	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7329539	1.00[CEU][hapmap]
rs7332108	0.83[JPT][hapmap]
rs7338402	0.91[CEU][hapmap]
rs7987449	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7994277	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7994395	0.82[JPT][hapmap]
rs7997302	1.00[CEU][hapmap]
rs7999016	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8002366	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs876808	1.00[CEU][hapmap]
rs9301870	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9301877	1.00[CEU][hapmap]
rs9516223	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9516225	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9524014	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9524016	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9524018	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9524038	1.00[CEU][hapmap]
rs9524039	1.00[CEU][hapmap]
rs9524070	0.91[CEU][hapmap]
rs9556280	0.86[JPT][hapmap]
rs9556286	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9556289	1.00[CEU][hapmap]
rs9561312	0.86[JPT][hapmap]
rs9561315	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9561316	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9561322	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9561326	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9561329	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9561334	0.87[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs9561336	1.00[CEU][hapmap]
rs9561340	1.00[CEU][hapmap]
rs9561346	0.89[CEU][hapmap]
rs973302	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2751156	chr13:93912999-93988638	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv900919	chr13:93957816-94030693	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1050202	chr13:93961478-93982388	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93971400-93982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:93971600-93979600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:93974000-93977800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:93974000-93978200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:93974200-93977200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:93974200-93978000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:93974200-93978000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:93974200-93978200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:93974200-93978200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:93974200-93978600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:93974200-93982400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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