Variant report

Variant	rs28452149
Chromosome Location	chr7:87541582-87541583
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	chr7:87534939..87537364-chr7:87538795..87541738,4	K562	blood:
2	chr7:87515310..87517946-chr7:87541273..87542911,2	K562	blood:

Variant related genes	Relation type
ENSG00000006634	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10216040	0.86[AFR][1000 genomes]
rs10225955	0.84[AFR][1000 genomes]
rs10230766	1.00[AMR][1000 genomes]
rs10231094	0.86[AFR][1000 genomes]
rs10235112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235854	0.86[AFR][1000 genomes]
rs10249603	0.86[AFR][1000 genomes]
rs10253864	0.86[AFR][1000 genomes]
rs10255051	0.86[AFR][1000 genomes]
rs10256319	0.82[AFR][1000 genomes]
rs10263074	0.95[AFR][1000 genomes]
rs10263159	1.00[AMR][1000 genomes]
rs10264991	0.89[AFR][1000 genomes]
rs10266417	0.86[AFR][1000 genomes]
rs10280397	0.81[AFR][1000 genomes]
rs10487000	0.86[AFR][1000 genomes]
rs11982729	0.86[AFR][1000 genomes]
rs12019344	1.00[AMR][1000 genomes]
rs12532358	0.84[AFR][1000 genomes]
rs17149924	0.86[AFR][1000 genomes]
rs17149946	0.84[AFR][1000 genomes]
rs17149963	0.84[AFR][1000 genomes]
rs17150006	0.86[AFR][1000 genomes]
rs17150008	0.86[AFR][1000 genomes]
rs2041049	0.95[AFR][1000 genomes]
rs28375568	0.84[AFR][1000 genomes]
rs28379741	0.84[AFR][1000 genomes]
rs28468388	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28470575	0.95[AFR][1000 genomes]
rs28535947	0.86[AFR][1000 genomes]
rs28666506	0.95[AFR][1000 genomes]
rs28742881	0.90[AFR][1000 genomes]
rs28827241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28847692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28890472	0.86[AFR][1000 genomes]
rs6955897	0.86[AFR][1000 genomes]
rs6962399	1.00[AMR][1000 genomes]
rs7794263	0.84[AFR][1000 genomes]
rs9655953	0.82[AFR][1000 genomes]
rs9986978	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv888696	chr7:87526944-87594188	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv529001	chr7:87541248-87564277	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr7:87529400-87547800	Weak transcription	NHEK	skin
2	chr7:87532600-87541600	Weak transcription	HUVEC	blood vessel
3	chr7:87534400-87541800	Weak transcription	Fetal Intestine Small	intestine
4	chr7:87535000-87543000	Weak transcription	HSMM	muscle
5	chr7:87535800-87547800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:87537200-87547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:87538000-87541600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:87538600-87544200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:87540800-87542400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:87541400-87542200	Enhancers	Primary monocytes fromperipheralblood	blood

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