Variant report

Variant	rs58179197
Chromosome Location	chr5:42510147-42510148
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	chr5:42509548..42511096-chr5:42511599..42513117,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10941577	0.95[ASN][1000 genomes]
rs11739243	0.95[ASN][1000 genomes]
rs11741390	0.95[ASN][1000 genomes]
rs11748084	0.94[ASN][1000 genomes]
rs12514403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12517368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12518010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12518274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12522222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12522421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12654986	0.82[AMR][1000 genomes]
rs13153388	0.95[ASN][1000 genomes]
rs13166255	0.94[ASN][1000 genomes]
rs13166285	0.95[ASN][1000 genomes]
rs13169289	0.95[ASN][1000 genomes]
rs13178282	0.94[ASN][1000 genomes]
rs13178652	0.95[ASN][1000 genomes]
rs13189275	0.95[ASN][1000 genomes]
rs1509462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2089645	0.84[ASN][1000 genomes]
rs28498583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28943875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28943877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28943879	0.84[ASN][1000 genomes]
rs2940913	0.95[ASN][1000 genomes]
rs2940937	0.97[ASN][1000 genomes]
rs2940944	0.95[ASN][1000 genomes]
rs2972392	0.95[ASN][1000 genomes]
rs2972393	0.95[ASN][1000 genomes]
rs2972418	0.97[ASN][1000 genomes]
rs2972420	0.95[ASN][1000 genomes]
rs33956936	0.95[ASN][1000 genomes]
rs34069689	1.00[EUR][1000 genomes]
rs35500216	0.97[ASN][1000 genomes]
rs4130114	0.95[ASN][1000 genomes]
rs4509029	0.95[ASN][1000 genomes]
rs4530764	0.95[ASN][1000 genomes]
rs4866781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866785	1.00[EUR][1000 genomes]
rs4866788	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866790	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866901	1.00[AMR][1000 genomes]
rs4866919	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866931	0.95[ASN][1000 genomes]
rs4866932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866934	0.95[ASN][1000 genomes]
rs4866935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451621	0.92[ASN][1000 genomes]
rs6451622	0.87[ASN][1000 genomes]
rs6451624	0.95[ASN][1000 genomes]
rs6897318	0.95[ASN][1000 genomes]
rs7705834	0.95[ASN][1000 genomes]
rs7710528	0.91[ASN][1000 genomes]
rs7721578	0.95[ASN][1000 genomes]
rs7723304	0.94[ASN][1000 genomes]
rs949559	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42498600-42514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:42503600-42510200	Enhancers	Liver	Liver
3	chr5:42508000-42516600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:42508200-42511400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr5:42508200-42514200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:42508200-42515200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:42508400-42513600	Weak transcription	Left Ventricle	heart
8	chr5:42508400-42514200	Weak transcription	Right Atrium	heart
9	chr5:42508400-42514600	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:42508400-42514800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:42508600-42514600	Weak transcription	Adipose Nuclei	Adipose
12	chr5:42509000-42511000	Enhancers	Ovary	ovary
13	chr5:42509400-42510600	Enhancers	Fetal Heart	heart
14	chr5:42509400-42510800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:42509600-42510400	Enhancers	Right Ventricle	heart
16	chr5:42509600-42516600	Weak transcription	Fetal Stomach	stomach
17	chr5:42509800-42510800	Weak transcription	Psoas Muscle	Psoas
18	chr5:42509800-42511200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:42509800-42511200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:42509800-42513200	Weak transcription	Fetal Lung	lung
21	chr5:42510000-42510400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:42510000-42510400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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