Variant report

Variant	rs28608156
Chromosome Location	chr5:43354376-43354377
allele	A/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	chr5:43311926..43313537-chr5:43352159..43354596,2	MCF-7	breast:
3	chr5:43352697..43356285-chr5:43368873..43371600,3	K562	blood:
4	chr5:43337657..43339686-chr5:43354363..43357334,2	K562	blood:

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

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10037409	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10038859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10040897	0.97[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10043148	0.86[EUR][1000 genomes]
rs10052384	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10054415	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10056437	0.86[EUR][1000 genomes]
rs10062031	0.86[EUR][1000 genomes]
rs10062121	0.86[EUR][1000 genomes]
rs10062598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10064967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10067763	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10077324	1.00[EUR][1000 genomes]
rs10079530	1.00[EUR][1000 genomes]
rs10473306	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10473308	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11955467	1.00[EUR][1000 genomes]
rs1478436	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16874093	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16874094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450849	0.86[EUR][1000 genomes]
rs28688522	0.85[AMR][1000 genomes]
rs28856961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4326149	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55645370	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60520238	1.00[EUR][1000 genomes]
rs6865440	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6884349	1.00[EUR][1000 genomes]
rs6892413	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6893898	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894240	0.85[AFR][1000 genomes]
rs7356654	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7356727	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73751075	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751078	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73751082	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73751083	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7710717	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7715267	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7729140	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7729145	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7733732	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9292869	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292870	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292872	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9292875	0.85[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:8 , 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
8	chr5:43354000-43355200	Enhancers	HMEC	breast

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