Variant report

Variant	rs72765953
Chromosome Location	chr5:58556268-58556269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10036406	0.90[ASN][1000 genomes]
rs10038599	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10055446	0.87[ASN][1000 genomes]
rs10061600	0.83[ASN][1000 genomes]
rs10061786	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064893	0.87[ASN][1000 genomes]
rs10068836	0.98[ASN][1000 genomes]
rs10070294	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070436	0.87[ASN][1000 genomes]
rs10075364	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740402	0.98[ASN][1000 genomes]
rs11747413	0.87[ASN][1000 genomes]
rs13328160	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13328175	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13328226	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13360907	0.98[ASN][1000 genomes]
rs17444059	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528257	0.98[ASN][1000 genomes]
rs17528285	0.87[ASN][1000 genomes]
rs17528473	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528634	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2112959	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28529077	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28647633	0.98[ASN][1000 genomes]
rs60453299	0.98[ASN][1000 genomes]
rs61683381	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6881054	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765932	0.87[ASN][1000 genomes]
rs72765942	0.98[ASN][1000 genomes]
rs72765961	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765990	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9292201	0.88[EUR][1000 genomes]
rs9686434	0.88[EUR][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	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	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58541200-58558400	Weak transcription	Pancreas	Pancrea
2	chr5:58541600-58560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:58541600-58562400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:58541800-58562800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:58551400-58557600	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:58552200-58556800	Weak transcription	Brain Substantia Nigra	brain
7	chr5:58552400-58558400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:58552600-58556600	Weak transcription	Brain Angular Gyrus	brain
9	chr5:58552600-58560400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:58553400-58560000	Weak transcription	Fetal Lung	lung
11	chr5:58553600-58556600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:58553800-58558400	Weak transcription	Left Ventricle	heart
13	chr5:58553800-58558400	Weak transcription	Right Atrium	heart
14	chr5:58553800-58568600	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:58554200-58556800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:58554200-58556800	Weak transcription	Fetal Intestine Large	intestine
17	chr5:58554200-58556800	Weak transcription	Fetal Intestine Small	intestine
18	chr5:58554200-58556800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:58554200-58557000	Weak transcription	Fetal Kidney	kidney
20	chr5:58554200-58558400	Weak transcription	Psoas Muscle	Psoas
21	chr5:58554200-58559600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:58554200-58561000	Weak transcription	Stomach Mucosa	stomach
23	chr5:58554200-58562600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:58554400-58558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:58554800-58557400	Flanking Active TSS	A549	lung
26	chr5:58555200-58556800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:58555200-58557000	Enhancers	Hela-S3	cervix
28	chr5:58555200-58557200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:58555800-58556800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:58555800-58557800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:58555800-58558600	Enhancers	Colon Smooth Muscle	Colon
32	chr5:58556200-58558400	Weak transcription	Fetal Heart	heart

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