Variant report

Variant	rs62358047
Chromosome Location	chr5:58651195-58651196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11959801	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960438	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186492	0.91[EUR][1000 genomes]
rs12186633	0.85[EUR][1000 genomes]
rs13154145	0.87[EUR][1000 genomes]
rs13164719	0.92[EUR][1000 genomes]
rs1457145	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1598740	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17725949	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726292	0.95[EUR][1000 genomes]
rs17782969	0.91[EUR][1000 genomes]
rs34433570	0.87[EUR][1000 genomes]
rs34553923	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34756714	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34852844	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62358055	0.91[EUR][1000 genomes]
rs6897015	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58635200-58652600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:58642200-58653200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:58642600-58652600	Weak transcription	Fetal Brain Male	brain
4	chr5:58642600-58652600	Weak transcription	Small Intestine	intestine
5	chr5:58643600-58652400	Weak transcription	Fetal Kidney	kidney
6	chr5:58646200-58654400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:58648000-58652600	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:58648000-58654200	Weak transcription	Ovary	ovary
9	chr5:58648200-58652200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:58648200-58652200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:58648400-58652400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:58648400-58652600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:58648600-58652200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:58648600-58652600	Weak transcription	Brain Angular Gyrus	brain
15	chr5:58648600-58652600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:58648600-58653000	Active TSS	Right Ventricle	heart
17	chr5:58648600-58653400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:58648600-58653800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:58649000-58652600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:58649000-58652600	Weak transcription	Fetal Stomach	stomach
21	chr5:58649400-58652600	Active TSS	Right Atrium	heart
22	chr5:58649400-58652800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:58649400-58653600	Weak transcription	Brain Anterior Caudate	brain
24	chr5:58649400-58653600	Weak transcription	Brain Substantia Nigra	brain
25	chr5:58649400-58654000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:58649400-58654200	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr5:58649600-58651400	Active TSS	Psoas Muscle	Psoas
28	chr5:58649600-58653600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr5:58650000-58652000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:58650000-58652200	Weak transcription	Fetal Lung	lung
31	chr5:58650200-58651400	Flanking Active TSS	A549	lung
32	chr5:58650400-58651400	Enhancers	Stomach Mucosa	stomach
33	chr5:58650400-58651400	Enhancers	HUVEC	blood vessel
34	chr5:58650400-58652600	Weak transcription	Adipose Nuclei	Adipose
35	chr5:58650600-58651200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:58650600-58651200	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:58650800-58652400	Weak transcription	Left Ventricle	heart
38	chr5:58651000-58651200	Enhancers	Rectal Smooth Muscle	rectum
39	chr5:58651000-58652200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr5:58651000-58652200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:58651000-58653000	Active TSS	Fetal Heart	heart

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