Variant report

Variant	rs16964117
Chromosome Location	chr18:30489253-30489254
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	chr18:30487680..30490056-chr18:30492113..30494145,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12104007	1.00[AMR][1000 genomes]
rs16963999	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964005	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964036	1.00[AMR][1000 genomes]
rs16964062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964082	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964115	1.00[AMR][1000 genomes]
rs16964116	1.00[AMR][1000 genomes]
rs28458243	1.00[AMR][1000 genomes]
rs28496433	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28516912	0.88[AFR][1000 genomes]
rs28771668	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55742357	1.00[AMR][1000 genomes]
rs56017479	1.00[AMR][1000 genomes]
rs60730880	0.88[AFR][1000 genomes]
rs60766333	0.92[AFR][1000 genomes]
rs61164044	1.00[AMR][1000 genomes]
rs9783891	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9783904	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9945125	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9947074	1.00[AMR][1000 genomes]
rs9949048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9949112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9949158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9951977	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9956243	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9956679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9958205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963068	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9965451	1.00[AFR][1000 genomes];1.00[AMR][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	esv2758474	chr18:30383327-30574737	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2758720	chr18:30383327-30574737	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv2250	chr18:30473758-30505927	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1060448	chr18:30481131-30540347	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1056985	chr18:30486272-30540347	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1816769	chr18:30486596-30518855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30485800-30489800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:30487000-30490400	Weak transcription	HMEC	breast
3	chr18:30487200-30490400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:30487400-30489800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:30487800-30489800	Weak transcription	HepG2	liver
6	chr18:30487800-30490800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:30487800-30490800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:30488400-30491200	Enhancers	Primary B cells from peripheral blood	blood
9	chr18:30488400-30492200	Enhancers	Primary B cells from cord blood	blood
10	chr18:30489200-30489600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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