Variant report

Variant	rs16986546
Chromosome Location	chr22:28997888-28997889
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28997050..28999545-chr22:28999902..29002703,2	MCF-7	breast:
2	chr22:28996007..28999960-chr22:29194026..29197947,6	MCF-7	breast:
3	chr22:28995898..28998203-chr22:29197005..29199575,2	K562	blood:
4	chr22:28995890..28998730-chr22:29188380..29190809,3	MCF-7	breast:
5	chr22:28996636..28999066-chr22:29195310..29197600,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10483149	0.97[AFR][1000 genomes]
rs16986374	0.97[AFR][1000 genomes]
rs16986390	0.97[AFR][1000 genomes]
rs16986392	0.97[AFR][1000 genomes]
rs16986403	0.97[AFR][1000 genomes]
rs16986405	0.97[AFR][1000 genomes]
rs16986408	0.97[AFR][1000 genomes]
rs16986409	0.97[AFR][1000 genomes]
rs16986410	0.97[AFR][1000 genomes]
rs16986419	0.90[AFR][1000 genomes]
rs16986422	0.97[AFR][1000 genomes]
rs16986425	0.97[AFR][1000 genomes]
rs16986433	0.80[AFR][1000 genomes]
rs16986435	1.00[AFR][1000 genomes]
rs16986438	0.80[AFR][1000 genomes]
rs16986449	1.00[AFR][1000 genomes]
rs16986454	1.00[AFR][1000 genomes]
rs16986458	0.94[AFR][1000 genomes]
rs16986471	1.00[AFR][1000 genomes]
rs16986480	1.00[AFR][1000 genomes]
rs16986487	1.00[AFR][1000 genomes]
rs16986494	1.00[AFR][1000 genomes]
rs16986542	1.00[AFR][1000 genomes]
rs17881716	0.93[AFR][1000 genomes]
rs57188662	0.84[AFR][1000 genomes]
rs58065411	1.00[AFR][1000 genomes]
rs58858940	1.00[AFR][1000 genomes]
rs59463287	1.00[AFR][1000 genomes]
rs60435869	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28991400-29000800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:28991400-29001000	Weak transcription	Fetal Lung	lung
3	chr22:28991400-29003600	Weak transcription	NHLF	lung
4	chr22:28991400-29004200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr22:28991800-29007600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr22:28996200-29002800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:28997000-29000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:28997600-28998400	Enhancers	Fetal Intestine Small	intestine
9	chr22:28997600-28998400	Enhancers	HepG2	liver
10	chr22:28997800-28998400	Enhancers	Liver	Liver
11	chr22:28997800-28998400	Enhancers	Fetal Intestine Large	intestine

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