Variant report

Variant	rs72765993
Chromosome Location	chr5:58584750-58584751
allele	C/T
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]
rs10036406	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10055446	0.85[AMR][1000 genomes]
rs10059709	0.81[AMR][1000 genomes]
rs10060200	0.88[EUR][1000 genomes]
rs10061600	0.81[AMR][1000 genomes]
rs10064893	0.85[AMR][1000 genomes]
rs10068836	0.85[AMR][1000 genomes]
rs10070436	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10079396	0.85[EUR][1000 genomes]
rs10079614	0.97[EUR][1000 genomes]
rs10079932	0.88[EUR][1000 genomes]
rs11740402	0.81[AMR][1000 genomes]
rs13328175	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17528634	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17724250	0.87[EUR][1000 genomes]
rs17780213	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17780584	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17780740	0.84[EUR][1000 genomes]
rs1824159	0.87[EUR][1000 genomes]
rs2044419	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194210	0.85[EUR][1000 genomes]
rs55837553	1.00[AFR][1000 genomes]
rs56183128	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57516309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60453299	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61683381	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765932	0.85[AMR][1000 genomes]
rs72765942	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72765990	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767710	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767722	0.85[EUR][1000 genomes]
rs9292201	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686434	0.81[EUR][1000 genomes];1.00[ASN][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	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58574200-58590200	Weak transcription	Right Atrium	heart
2	chr5:58582400-58587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58583000-58584800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:58583600-58589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:58583600-58592400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:58583600-58592600	Weak transcription	Psoas Muscle	Psoas
7	chr5:58583600-58596400	Weak transcription	Esophagus	oesophagus
8	chr5:58583800-58584800	Enhancers	Hela-S3	cervix
9	chr5:58583800-58591200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:58584000-58588400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:58584000-58588600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:58584000-58588600	Weak transcription	HMEC	breast
13	chr5:58584000-58589000	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:58584000-58589400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:58584000-58591800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:58584000-58596400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:58584200-58587800	Weak transcription	Fetal Heart	heart
18	chr5:58584200-58588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:58584200-58588600	Weak transcription	NHEK	skin
20	chr5:58584400-58584800	Flanking Active TSS	A549	lung
21	chr5:58584600-58584800	Flanking Active TSS	HUVEC	blood vessel

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