Variant report

Variant	rs73761526
Chromosome Location	chr5:58824947-58824948
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1506557	0.85[AMR][1000 genomes]
rs16889896	0.85[AMR][1000 genomes]
rs28424104	0.83[AMR][1000 genomes]
rs28508065	0.83[AMR][1000 genomes]
rs73758981	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7723289	0.83[AMR][1000 genomes]
rs931855	0.85[AMR][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	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58815400-58830400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:58819000-58832600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58820000-58831400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:58821000-58828600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:58822200-58838800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:58822800-58837600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:58823000-58838200	Weak transcription	Fetal Brain Male	brain
8	chr5:58823400-58825400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:58823600-58825000	Enhancers	HUVEC	blood vessel
10	chr5:58823600-58825400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:58823800-58825000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:58823800-58825000	Enhancers	HSMM	muscle
13	chr5:58823800-58826000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:58824200-58825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:58824200-58825400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:58824200-58831400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:58824200-58834600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:58824400-58825000	Enhancers	HSMMtube	muscle
19	chr5:58824400-58828600	Weak transcription	Brain Substantia Nigra	brain
20	chr5:58824600-58825200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr5:58824600-58825400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:58824600-58826000	Enhancers	Psoas Muscle	Psoas
23	chr5:58824800-58826000	Genic enhancers	A549	lung
24	chr5:58824800-58827000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:58824800-58829200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:58824800-58836000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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