Variant report

Variant	rs10054481
Chromosome Location	chr5:58592157-58592158
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10472101	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10472102	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10491353	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11955452	0.85[ASN][1000 genomes]
rs11956680	0.85[ASN][1000 genomes]
rs12653844	0.85[ASN][1000 genomes]
rs12655617	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12658554	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13359998	0.85[ASN][1000 genomes]
rs4700335	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1030117	chr5:58587672-58637179	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58583600-58592400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58583600-58592600	Weak transcription	Psoas Muscle	Psoas
3	chr5:58583600-58596400	Weak transcription	Esophagus	oesophagus
4	chr5:58584000-58596400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:58584800-58592400	Weak transcription	Fetal Intestine Large	intestine
6	chr5:58587800-58592800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:58588000-58592400	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:58588600-58592400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58588600-58592400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:58588800-58592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:58588800-58592400	Enhancers	Hela-S3	cervix
12	chr5:58589000-58592400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:58589000-58592400	Enhancers	Colon Smooth Muscle	Colon
14	chr5:58589800-58592400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:58589800-58592600	Weak transcription	Left Ventricle	heart
16	chr5:58590200-58592200	Weak transcription	Stomach Mucosa	stomach
17	chr5:58590200-58592400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:58590200-58594800	Weak transcription	Gastric	stomach
19	chr5:58590400-58592400	Weak transcription	Right Atrium	heart
20	chr5:58590600-58592800	Weak transcription	Fetal Stomach	stomach
21	chr5:58591200-58592600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:58591200-58595600	Enhancers	Fetal Heart	heart
23	chr5:58591400-58592400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:58591400-58592400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:58591400-58592400	Enhancers	HUVEC	blood vessel
26	chr5:58591600-58592400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:58591600-58592600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:58591600-58592600	Enhancers	HMEC	breast
29	chr5:58591600-58593000	Enhancers	Right Ventricle	heart
30	chr5:58591600-58596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:58591600-58597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:58591800-58592400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:58591800-58592400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:58591800-58592600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:58591800-58592600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:58591800-58592600	Enhancers	Small Intestine	intestine
37	chr5:58592000-58592400	Active TSS	A549	lung
38	chr5:58592000-58592400	Enhancers	NHEK	skin

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