Variant report

Variant	rs28647633
Chromosome Location	chr5:58536729-58536730
allele	A/G
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:26)

rs_ID	r²[population]
rs10036406	0.87[ASN][1000 genomes]
rs10055446	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10059709	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10061600	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10061786	0.98[ASN][1000 genomes]
rs10064893	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10068836	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070294	0.98[ASN][1000 genomes]
rs10070436	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10075364	0.98[ASN][1000 genomes]
rs11740402	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747413	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13328226	0.88[ASN][1000 genomes]
rs13360907	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444059	0.98[ASN][1000 genomes]
rs17528257	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528285	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17528473	0.98[ASN][1000 genomes]
rs2112959	0.88[ASN][1000 genomes]
rs28529077	0.98[ASN][1000 genomes]
rs60453299	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6881054	0.98[ASN][1000 genomes]
rs72765932	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72765942	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765953	0.98[ASN][1000 genomes]
rs72765961	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	nsv881703	chr5:58517918-58540847	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1025807	chr5:58520050-58548231	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58520800-58537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
3	chr5:58531000-58537600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr5:58532600-58540800	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:58532600-58541000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:58533200-58536800	Weak transcription	Osteobl	bone
7	chr5:58533200-58540800	Weak transcription	HSMMtube	muscle
8	chr5:58533400-58537200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:58533600-58541000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:58533800-58538400	Enhancers	A549	lung
11	chr5:58534000-58538000	Weak transcription	Small Intestine	intestine
12	chr5:58535200-58537600	Enhancers	Fetal Heart	heart
13	chr5:58535200-58538800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:58535400-58537000	Weak transcription	Left Ventricle	heart
15	chr5:58535400-58537000	Weak transcription	Right Atrium	heart
16	chr5:58535400-58539000	Enhancers	Colon Smooth Muscle	Colon
17	chr5:58535400-58541000	Weak transcription	Fetal Intestine Large	intestine
18	chr5:58535600-58537000	Weak transcription	Brain Angular Gyrus	brain
19	chr5:58535600-58540800	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:58535600-58540800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:58535600-58541000	Weak transcription	Right Ventricle	heart
22	chr5:58535600-58551800	Weak transcription	HUVEC	blood vessel
23	chr5:58535800-58537000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:58536000-58537000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:58536000-58537200	Enhancers	Psoas Muscle	Psoas
26	chr5:58536400-58537800	Enhancers	Brain Substantia Nigra	brain
27	chr5:58536400-58537800	Enhancers	Hela-S3	cervix
28	chr5:58536600-58537200	Enhancers	Muscle Satellite Cultured Cells	--

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