Variant report

Variant	rs58316019
Chromosome Location	chr5:127246233-127246234
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127241157..127248623-chr5:127417759..127421019,7	MCF-7	breast:
2	chr5:127233004..127236913-chr5:127245054..127247507,3	MCF-7	breast:
3	chr5:127244288..127247153-chr5:127255192..127259002,3	MCF-7	breast:
4	chr5:127244870..127247322-chr5:127418600..127421398,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10036951	0.87[EUR][1000 genomes]
rs10491255	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13155003	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13166824	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13187008	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs151848	0.95[ASN][1000 genomes]
rs151850	0.95[ASN][1000 genomes]
rs151851	0.95[ASN][1000 genomes]
rs151852	0.95[ASN][1000 genomes]
rs17164526	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17164533	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17164534	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17839667	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2176831	0.86[EUR][1000 genomes]
rs245161	0.97[ASN][1000 genomes]
rs245162	0.95[ASN][1000 genomes]
rs245166	0.95[ASN][1000 genomes]
rs245168	0.95[ASN][1000 genomes]
rs245169	0.95[ASN][1000 genomes]
rs245170	0.95[ASN][1000 genomes]
rs4836339	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62375865	0.95[ASN][1000 genomes]
rs734642	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7702027	0.82[EUR][1000 genomes]
rs7708799	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7723029	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9327454	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9327455	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127243600-127246400	Enhancers	A549	lung
2	chr5:127244400-127247200	Enhancers	Stomach Mucosa	stomach
3	chr5:127244600-127246400	Weak transcription	Fetal Intestine Large	intestine
4	chr5:127244600-127247800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:127244800-127247000	Enhancers	HUVEC	blood vessel
6	chr5:127245600-127246600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:127245600-127247600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr5:127245600-127249200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:127246000-127246400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:127246000-127246400	Weak transcription	Small Intestine	intestine
11	chr5:127246200-127246400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:127246200-127247000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:127246200-127248200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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