Variant report

Variant	rs12149234
Chromosome Location	chr16:79698371-79698372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79675675..79678108-chr16:79697158..79699513,2	MCF-7	breast:
2	chr16:79698328..79700489-chr16:79701570..79703938,2	MCF-7	breast:
3	chr16:79638454..79641021-chr16:79697878..79699987,2	K562	blood:
4	chr16:79632310..79635218-chr16:79696789..79699191,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178573	Chromatin interaction
ENSG00000221330	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11150187	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11644082	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11644758	0.82[EUR][1000 genomes]
rs11644799	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11645076	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12449109	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12449161	0.83[AMR][1000 genomes]
rs1424231	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16950997	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28773265	0.81[AMR][1000 genomes]
rs4243177	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4490016	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4888043	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4889009	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889012	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4889014	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889015	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889016	0.82[ASN][1000 genomes]
rs56225749	0.81[ASN][1000 genomes]
rs56892402	0.81[AMR][1000 genomes]
rs6564688	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7187128	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7200841	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7202770	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74037508	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7500666	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8047723	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8048539	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8048928	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9927134	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79688200-79698400	Weak transcription	Right Atrium	heart
2	chr16:79696600-79698600	Enhancers	Esophagus	oesophagus
3	chr16:79696600-79698800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:79696600-79698800	Enhancers	HMEC	breast
5	chr16:79696800-79698600	Enhancers	NHEK	skin
6	chr16:79697000-79698600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:79697800-79698400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:79697800-79700600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:79698000-79698400	Enhancers	Placenta	Placenta
10	chr16:79698000-79698600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:79698000-79698600	Enhancers	Pancreas	Pancrea
12	chr16:79698200-79698400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr16:79698200-79698600	Enhancers	Fetal Intestine Small	intestine
14	chr16:79698200-79698600	Enhancers	Fetal Lung	lung
15	chr16:79698200-79698600	Enhancers	Lung	lung

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