Variant report

Variant	rs40210
Chromosome Location	chr5:57619964-57619965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57619632..57622080-chr5:57627168..57629517,2	K562	blood:
2	chr5:57618594..57622607-chr5:57622737..57625400,3	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10513142	0.81[AFR][1000 genomes]
rs13159047	1.00[YRI][hapmap]
rs13168414	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs1469090	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs151868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs152010	1.00[YRI][hapmap]
rs154670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs154671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154673	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17709103	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs181745	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1981838	1.00[ASW][hapmap]
rs2052547	0.84[AFR][1000 genomes]
rs2081087	1.00[AFR][1000 genomes]
rs2216678	0.84[AFR][1000 genomes]
rs2216679	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2434584	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs245282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs245285	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs245287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs245295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs245296	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs245493	0.81[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap]
rs246114	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs27210	0.81[AFR][1000 genomes]
rs27211	0.81[AFR][1000 genomes]
rs27840	0.81[AFR][1000 genomes]
rs2910573	1.00[YRI][hapmap]
rs2910577	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2910592	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2910600	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2910601	1.00[ASW][hapmap]
rs2910605	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2964193	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2964195	0.84[AFR][1000 genomes]
rs2964200	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2964205	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35263833	0.81[AFR][1000 genomes]
rs37484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs37485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs37486	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs37488	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs37492	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs37516	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs37523	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs37526	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs37527	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs37528	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs37533	0.88[AFR][1000 genomes]
rs37536	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40209	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs41384	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs42963	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs58174847	0.81[AFR][1000 genomes]
rs989579	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]

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	esv3489100	chr5:57545689-57669673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3489101	chr5:57545689-57669673	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs40210	BEND6	trans	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57616400-57620200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:57617600-57622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:57618200-57620000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:57618800-57626000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:57618800-57626800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:57619000-57621800	Weak transcription	NHEK	skin
7	chr5:57619000-57626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:57619800-57622000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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