Variant report

Variant	rs34947473
Chromosome Location	chr5:111583948-111583949
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs13158768	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13160791	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13166322	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13171756	0.89[AMR][1000 genomes]
rs13180416	0.81[AMR][1000 genomes]
rs13183224	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13184442	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17134318	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17134331	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17134343	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17134350	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34069146	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34136685	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34489497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34721765	0.85[AMR][1000 genomes]
rs35005258	0.85[AMR][1000 genomes]
rs35182061	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35212577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35368594	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35538937	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35625614	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35705963	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35808967	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35843631	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35938930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4485968	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4957640	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4957643	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4958023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4958026	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4958033	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56318754	0.81[AMR][1000 genomes]
rs62364081	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62364135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62364136	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62364138	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62364140	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62364141	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62364144	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62364145	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62365192	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62365194	0.81[AMR][1000 genomes]
rs62365198	0.85[AMR][1000 genomes]
rs62370377	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6865000	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71579180	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73787790	0.84[AMR][1000 genomes]
rs7714295	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111504800-111586400	Weak transcription	Gastric	stomach
2	chr5:111558600-111584400	Weak transcription	Psoas Muscle	Psoas
3	chr5:111558800-111591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:111564600-111586400	Weak transcription	Lung	lung
5	chr5:111564600-111590000	Weak transcription	Left Ventricle	heart
6	chr5:111564600-111609600	Weak transcription	Pancreas	Pancrea
7	chr5:111564800-111589400	Weak transcription	HUVEC	blood vessel
8	chr5:111567400-111602400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:111568600-111609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:111569600-111589000	Weak transcription	Adipose Nuclei	Adipose
11	chr5:111572200-111584000	Weak transcription	Hela-S3	cervix
12	chr5:111576200-111586400	Weak transcription	Esophagus	oesophagus
13	chr5:111578600-111590000	Weak transcription	Right Ventricle	heart
14	chr5:111581200-111584600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:111581600-111590000	Weak transcription	Aorta	Aorta
16	chr5:111581800-111595000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:111582800-111585000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:111583000-111584400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:111583200-111584200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:111583200-111584400	Weak transcription	Fetal Brain Male	brain
21	chr5:111583200-111590600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:111583600-111587000	Enhancers	Fetal Heart	heart
23	chr5:111583800-111584000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:111583800-111584600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:111583800-111584800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:111583800-111585000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:111583800-111585600	Enhancers	Fetal Brain Female	brain

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