Variant report

Variant	rs10040505
Chromosome Location	chr5:147745917-147745918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:147741494..147743937-chr5:147745806..147748571,2	MCF-7	breast:
2	chr5:147745321..147747162-chr5:147755896..147758835,2	K562	blood:
3	chr5:147744466..147747279-chr5:147762545..147764556,2	K562	blood:

Variant related genes	Relation type
ENSG00000145868	Chromatin interaction
ENSG00000247199	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10037368	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10040393	1.00[AMR][1000 genomes]
rs10042851	1.00[AMR][1000 genomes]
rs10044087	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10045091	1.00[AMR][1000 genomes]
rs10045756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10052377	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056478	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10057961	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10065391	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10066963	1.00[AMR][1000 genomes]
rs10068025	1.00[AMR][1000 genomes]
rs10068442	1.00[AMR][1000 genomes]
rs10069937	1.00[AMR][1000 genomes]
rs10070008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10070268	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10071193	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10072138	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076153	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10077891	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10079807	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10447230	1.00[ASW][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10476893	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477377	1.00[ASW][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11953609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13328218	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13356990	1.00[AMR][1000 genomes]
rs28477447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28488637	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28503435	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57679720	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv3470753	chr5:147742345-147750111	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3470754	chr5:147742345-147750111	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv16005	chr5:147742531-147749953	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147709400-147749200	Weak transcription	Psoas Muscle	Psoas
2	chr5:147723600-147751600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:147729200-147762200	Weak transcription	Aorta	Aorta
4	chr5:147730200-147754200	Weak transcription	Left Ventricle	heart

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