Variant report

Variant	rs72765990
Chromosome Location	chr5:58575626-58575627
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10036406	1.00[AFR][1000 genomes]
rs10038599	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10061786	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10070294	0.91[EUR][1000 genomes]
rs10070436	1.00[AFR][1000 genomes]
rs10075364	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13328160	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13328175	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13328226	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17444059	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17528473	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17528634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17780213	1.00[ASN][1000 genomes]
rs17780584	1.00[AFR][1000 genomes]
rs2044419	1.00[ASN][1000 genomes]
rs2112959	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28529077	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55837553	1.00[AFR][1000 genomes]
rs56183128	1.00[ASN][1000 genomes]
rs57516309	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61683381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881054	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72765942	1.00[AFR][1000 genomes]
rs72765953	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72765961	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72765993	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767710	1.00[ASN][1000 genomes]
rs9292201	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686434	0.88[AMR][1000 genomes];1.00[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58571800-58579400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:58572000-58582800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:58572200-58583000	Weak transcription	Left Ventricle	heart
4	chr5:58572400-58575800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:58572800-58577800	Enhancers	Hela-S3	cervix
6	chr5:58573200-58576000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:58573400-58583400	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:58573600-58576400	Weak transcription	Fetal Intestine Small	intestine
9	chr5:58573600-58582800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:58573600-58583000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:58573600-58583000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:58573800-58576600	Weak transcription	Fetal Heart	heart
13	chr5:58573800-58581400	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:58574200-58590200	Weak transcription	Right Atrium	heart
15	chr5:58574800-58582800	Weak transcription	Psoas Muscle	Psoas
16	chr5:58575200-58575800	Enhancers	Fetal Intestine Large	intestine
17	chr5:58575400-58581800	Weak transcription	HUVEC	blood vessel
18	chr5:58575600-58575800	Flanking Active TSS	A549	lung

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