Variant report

Variant	rs258120
Chromosome Location	chr5:58704263-58704264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1350298	0.85[ASN][1000 genomes]
rs154025	0.84[EUR][1000 genomes]
rs1817248	0.83[ASN][1000 genomes]
rs185333	0.81[EUR][1000 genomes]
rs244567	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs258107	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs258119	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs258123	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs258124	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2607349	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2702373	0.85[ASN][1000 genomes]
rs35262	0.83[EUR][1000 genomes]
rs35281	0.88[EUR][1000 genomes]
rs35286	0.84[EUR][1000 genomes]
rs372309	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs377451	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs389324	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs403687	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs441683	0.87[EUR][1000 genomes]
rs525099	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[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	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	nsv881705	chr5:58668669-58745872	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1034656	chr5:58674724-58755580	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv598253	chr5:58675538-58754510	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58682000-58711800	Weak transcription	Psoas Muscle	Psoas
2	chr5:58702400-58704800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58703000-58705600	ZNF genes & repeats	A549	lung
4	chr5:58703200-58704600	ZNF genes & repeats	Fetal Lung	lung
5	chr5:58703600-58704400	ZNF genes & repeats	Fetal Intestine Large	intestine
6	chr5:58703600-58704600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr5:58703600-58704600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:58703800-58704600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:58703800-58704600	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:58703800-58704800	ZNF genes & repeats	Fetal Stomach	stomach
11	chr5:58703800-58705600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr5:58704000-58704600	ZNF genes & repeats	Aorta	Aorta
13	chr5:58704200-58714200	Weak transcription	Rectal Mucosa Donor 31	rectum

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