Variant report

Variant	rs59448649
Chromosome Location	chr3:80783042-80783043
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10049368	0.85[AMR][1000 genomes]
rs17018281	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56059271	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56091124	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56198464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56802446	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57189276	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57211378	0.85[AMR][1000 genomes]
rs57495637	0.85[AMR][1000 genomes]
rs59303804	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61598826	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6764754	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6800151	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6802656	0.83[AMR][1000 genomes]
rs73851782	0.83[AMR][1000 genomes]
rs73852203	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73854221	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73854222	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73854230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854233	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73854234	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854942	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7614247	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7624579	0.85[AMR][1000 genomes]
rs7625164	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9682002	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9843591	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004115	chr3:80349665-81043308	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv536601	chr3:80349665-81043308	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1067580	chr3:80416729-81043307	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv492220	chr3:80416729-81043307	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1000592	chr3:80422155-81044175	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv527598	chr3:80585455-81250663	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv877037	chr3:80611818-80811252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv877038	chr3:80781726-80984958	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80780600-80785600	Enhancers	HUVEC	blood vessel
2	chr3:80781000-80784800	Enhancers	Fetal Intestine Large	intestine
3	chr3:80781600-80784200	Enhancers	Stomach Mucosa	stomach
4	chr3:80782000-80784000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:80782200-80784600	Enhancers	HepG2	liver
6	chr3:80782600-80783200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:80782600-80783200	Flanking Active TSS	Hela-S3	cervix
8	chr3:80782600-80783600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:80782600-80783800	Enhancers	Small Intestine	intestine
10	chr3:80782600-80783800	Enhancers	K562	blood
11	chr3:80782600-80784000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr3:80782600-80784000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr3:80782600-80784000	Enhancers	NH-A	brain
14	chr3:80782600-80784200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:80782600-80784800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:80782600-80784800	Enhancers	Fetal Intestine Small	intestine
17	chr3:80782800-80783200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:80782800-80783200	Enhancers	Pancreas	Pancrea
19	chr3:80782800-80783400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:80782800-80783600	Weak transcription	Placenta	Placenta
21	chr3:80782800-80784000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr3:80782800-80784800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:80782800-80784800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:80783000-80783200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr3:80783000-80783600	Enhancers	Duodenum Mucosa	Duodenum
26	chr3:80783000-80784200	Enhancers	Primary hematopoietic stem cells	blood

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