Variant report

Variant	rs58347375
Chromosome Location	chr5:167170736-167170737
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10065043	0.97[ASN][1000 genomes]
rs10454965	0.86[EUR][1000 genomes]
rs11134468	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11134470	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11134471	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11949355	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11956673	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12186530	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12516791	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12520082	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17069129	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2337000	0.93[ASN][1000 genomes]
rs4479863	0.95[ASN][1000 genomes]
rs4868807	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4869068	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869072	0.94[EUR][1000 genomes]
rs57533222	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57674698	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58922769	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60161912	0.81[EUR][1000 genomes]
rs61165988	0.97[ASN][1000 genomes]
rs67767662	0.97[ASN][1000 genomes]
rs6862936	0.97[ASN][1000 genomes]
rs6869167	0.94[ASN][1000 genomes]
rs6891311	0.96[ASN][1000 genomes]
rs6898153	0.90[EUR][1000 genomes]
rs72832005	0.91[EUR][1000 genomes]
rs72832012	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72832022	0.94[EUR][1000 genomes]
rs7703715	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7708656	0.94[EUR][1000 genomes]
rs7730435	0.94[EUR][1000 genomes]
rs7737681	0.93[EUR][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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167158800-167170800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:167159200-167171000	Weak transcription	HSMM	muscle
3	chr5:167165200-167170800	Weak transcription	Fetal Lung	lung
4	chr5:167167000-167171200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:167169800-167171600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167170000-167170800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:167170000-167171000	Enhancers	NHEK	skin
8	chr5:167170000-167171200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:167170000-167171400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:167170000-167171600	Enhancers	Hela-S3	cervix
11	chr5:167170000-167171600	Enhancers	NH-A	brain
12	chr5:167170000-167172200	Enhancers	HMEC	breast
13	chr5:167170000-167172400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:167170200-167171000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:167170200-167171600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:167170200-167171600	Enhancers	HSMMtube	muscle
17	chr5:167170200-167171600	Enhancers	Osteobl	bone
18	chr5:167170200-167171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:167170200-167171800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:167170400-167171000	Weak transcription	Adipose Nuclei	Adipose
21	chr5:167170400-167171000	Weak transcription	Pancreas	Pancrea
22	chr5:167170400-167177200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:167170600-167170800	Enhancers	A549	lung
24	chr5:167170600-167171000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:167170600-167171200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:167170600-167171200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:167170600-167171400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:167170600-167171400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr5:167170600-167171600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:167170600-167171600	Enhancers	NHDF-Ad	bronchial

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