Variant report

Variant	rs34819608
Chromosome Location	chr5:111590409-111590410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111586727..111589187-chr5:111589233..111591104,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10478074	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10478076	0.91[ASN][1000 genomes]
rs12652766	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12655450	0.98[ASN][1000 genomes]
rs12656841	0.92[ASN][1000 genomes]
rs12719140	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13358904	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28620667	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35005258	0.92[ASN][1000 genomes]
rs36049225	0.92[ASN][1000 genomes]
rs4323272	0.92[ASN][1000 genomes]
rs4635975	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4958024	0.97[ASN][1000 genomes]
rs4958026	0.95[ASN][1000 genomes]
rs4958027	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4958028	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4958029	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57970031	0.98[ASN][1000 genomes]
rs59775924	0.98[ASN][1000 genomes]
rs60823180	1.00[ASN][1000 genomes]
rs61475230	0.95[ASN][1000 genomes]
rs61535569	1.00[ASN][1000 genomes]
rs62364080	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6879361	0.97[ASN][1000 genomes]
rs7715255	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7716479	0.96[ASN][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	chr5:111558800-111591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:111564600-111609600	Weak transcription	Pancreas	Pancrea
3	chr5:111567400-111602400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:111568600-111609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:111581800-111595000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:111583200-111590600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:111584800-111592200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:111584800-111605600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:111585600-111593400	Weak transcription	Fetal Brain Female	brain
10	chr5:111585800-111606000	Weak transcription	Spleen	Spleen
11	chr5:111586600-111626400	Weak transcription	Gastric	stomach
12	chr5:111589200-111590600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr5:111589400-111590600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:111589600-111590800	Enhancers	Adipose Nuclei	Adipose
15	chr5:111590000-111590600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:111590000-111590600	Enhancers	Lung	lung
17	chr5:111590000-111590600	Enhancers	Right Ventricle	heart
18	chr5:111590000-111590800	Genic enhancers	Esophagus	oesophagus
19	chr5:111590000-111590800	Enhancers	Left Ventricle	heart
20	chr5:111590000-111590800	Enhancers	Right Atrium	heart
21	chr5:111590000-111593000	Weak transcription	Fetal Heart	heart
22	chr5:111590200-111593000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:111590400-111591200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:111590400-111591400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:111590400-111593000	Weak transcription	HUVEC	blood vessel
26	chr5:111590400-111609600	Weak transcription	Psoas Muscle	Psoas
27	chr5:111590400-111628200	Weak transcription	Aorta	Aorta

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