Variant report

Variant	rs11957933
Chromosome Location	chr5:44944346-44944347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:44943887..44946643-chr5:44948508..44950374,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10512866	0.91[EUR][1000 genomes]
rs11951477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153376	1.00[EUR][1000 genomes]
rs13153426	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs13162944	1.00[EUR][1000 genomes]
rs13163070	0.87[EUR][1000 genomes]
rs13165641	0.91[EUR][1000 genomes]
rs13165992	0.91[EUR][1000 genomes]
rs13166622	0.82[EUR][1000 genomes]
rs13167135	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13167593	0.83[EUR][1000 genomes]
rs13171177	0.83[ASN][1000 genomes]
rs13172191	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs13173899	0.87[EUR][1000 genomes]
rs13180428	0.87[EUR][1000 genomes]
rs13183825	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184849	1.00[EUR][1000 genomes]
rs13185697	1.00[EUR][1000 genomes]
rs13187122	0.91[EUR][1000 genomes]
rs13187187	0.91[EUR][1000 genomes]
rs13188873	1.00[EUR][1000 genomes]
rs13188895	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16901939	0.91[EUR][1000 genomes]
rs16901954	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901958	0.91[EUR][1000 genomes]
rs16901986	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16901987	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs34094652	1.00[EUR][1000 genomes]
rs34098474	0.87[EUR][1000 genomes]
rs34133773	0.87[EUR][1000 genomes]
rs34172556	0.87[EUR][1000 genomes]
rs34216230	0.91[EUR][1000 genomes]
rs34282174	0.91[EUR][1000 genomes]
rs34544432	0.91[EUR][1000 genomes]
rs34918593	0.91[EUR][1000 genomes]
rs34942360	0.91[EUR][1000 genomes]
rs35241613	1.00[EUR][1000 genomes]
rs35278372	0.91[EUR][1000 genomes]
rs35472604	0.87[EUR][1000 genomes]
rs35534193	0.91[EUR][1000 genomes]
rs35564441	0.87[EUR][1000 genomes]
rs35842403	0.91[EUR][1000 genomes]
rs35850760	0.91[EUR][1000 genomes]
rs35868527	0.91[EUR][1000 genomes]
rs36163058	0.91[EUR][1000 genomes]
rs4398644	1.00[EUR][1000 genomes]
rs57288883	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58871041	0.87[EUR][1000 genomes]
rs59337658	1.00[EUR][1000 genomes]
rs60303396	0.87[EUR][1000 genomes]
rs60772043	0.87[EUR][1000 genomes]
rs6451785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860030	0.87[EUR][1000 genomes]
rs6869608	0.87[EUR][1000 genomes]
rs6870104	0.87[EUR][1000 genomes]
rs6870510	0.87[EUR][1000 genomes]
rs6876888	0.87[EUR][1000 genomes]
rs6877331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877454	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881573	0.87[EUR][1000 genomes]
rs6882983	0.87[EUR][1000 genomes]
rs6891637	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893211	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71590654	1.00[EUR][1000 genomes]
rs73752419	0.85[AFR][1000 genomes]
rs7702844	0.80[AFR][1000 genomes]
rs7704815	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710153	0.87[EUR][1000 genomes]
rs7722864	0.82[AFR][1000 genomes]
rs7726555	0.87[EUR][1000 genomes]
rs7735466	0.91[EUR][1000 genomes]
rs7736197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv880483	chr5:44827292-45038026	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:44941000-44944800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:44942200-44944800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:44942200-44946000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:44943000-44946400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:44943400-44944800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:44943400-44945600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:44943400-44945600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:44943400-44946000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:44943400-44946400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:44943400-44946400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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