Variant report

Variant	rs10054415
Chromosome Location	chr5:43353894-43353895
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43353310..43356039-chr5:43483039..43485689,2	K562	blood:
2	chr5:43313084..43315493-chr5:43350846..43353946,3	MCF-7	breast:
3	chr5:43311926..43313537-chr5:43352159..43354596,2	MCF-7	breast:
4	chr5:43352697..43356285-chr5:43368873..43371600,3	K562	blood:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10037409	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10037706	1.00[CEU][hapmap]
rs10038859	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10040897	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10043148	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10052384	0.86[EUR][1000 genomes]
rs10056437	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10062031	0.86[EUR][1000 genomes]
rs10062121	0.86[EUR][1000 genomes]
rs10062598	1.00[CEU][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10064967	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10067763	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10069507	1.00[CEU][hapmap]
rs10077324	1.00[EUR][1000 genomes]
rs10079530	1.00[EUR][1000 genomes]
rs10473306	1.00[CEU][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10473308	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11955467	1.00[EUR][1000 genomes]
rs1478436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16874093	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16874094	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450849	0.86[EUR][1000 genomes]
rs28608156	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28688522	0.85[AMR][1000 genomes]
rs28856961	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4326149	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55645370	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60520238	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6865440	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6884349	1.00[CEU][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6892413	0.86[EUR][1000 genomes]
rs6893898	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894240	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs6895237	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs7356654	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7356727	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73751075	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73751082	0.86[EUR][1000 genomes]
rs73751083	0.86[EUR][1000 genomes]
rs7710717	1.00[CEU][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7715267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7729140	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7729145	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7733732	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9292869	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292870	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292872	1.00[CEU][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9292875	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43350400-43354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:43351200-43357200	Weak transcription	Esophagus	oesophagus
3	chr5:43351600-43356800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:43351600-43356800	Weak transcription	Fetal Intestine Small	intestine
5	chr5:43352800-43354400	Enhancers	K562	blood
6	chr5:43353800-43355200	Enhancers	NHEK	skin
7	chr5:43353800-43355400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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