Variant report

Variant	rs7200033
Chromosome Location	chr16:48037549-48037550
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12103023	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13330065	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13330477	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337029	0.90[AMR][1000 genomes]
rs1985323	1.00[MEX][hapmap]
rs28508022	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28533708	0.91[AFR][1000 genomes]
rs3887008	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3899422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6500353	1.00[MEX][hapmap]
rs7184685	1.00[AMR][1000 genomes]
rs7185342	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7190168	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7194254	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7196906	1.00[AMR][1000 genomes]
rs7198239	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199647	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202404	0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016242	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016243	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016244	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016247	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016251	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016265	0.86[AFR][1000 genomes]
rs8044501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050751	0.86[AFR][1000 genomes]
rs8053889	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8055464	0.89[AFR][1000 genomes]
rs8056932	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9923542	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926879	1.00[MEX][hapmap]
rs9934257	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935906	0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9938295	0.92[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9939073	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9940106	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1798	chr16:48035871-48080541	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48036000-48039800	Enhancers	Brain Germinal Matrix	brain
2	chr16:48037000-48038400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:48037000-48038400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:48037000-48038600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:48037000-48038600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:48037000-48038600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:48037000-48038600	Enhancers	HMEC	breast
8	chr16:48037000-48039800	Enhancers	Fetal Brain Male	brain
9	chr16:48037200-48037800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr16:48037200-48038600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:48037200-48038600	Enhancers	NHEK	skin
12	chr16:48037200-48039200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr16:48037400-48037800	Enhancers	NHDF-Ad	bronchial
14	chr16:48037400-48038000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr16:48037400-48038000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr16:48037400-48038600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:48037400-48038800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:48037400-48039200	Enhancers	Fetal Brain Female	brain

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