Variant report

Variant	rs73774458
Chromosome Location	chr5:99931477-99931478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57436754	1.00[AFR][1000 genomes]
rs58926335	1.00[AMR][1000 genomes]
rs60324156	1.00[AFR][1000 genomes]
rs73774441	1.00[AFR][1000 genomes]
rs73774445	1.00[AFR][1000 genomes]
rs73774448	1.00[AFR][1000 genomes]
rs73774457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774478	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599165	chr5:99469004-100063039	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv882462	chr5:99745767-100060150	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1025890	chr5:99745775-99936186	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1018395	chr5:99827242-100003207	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv823158	chr5:99912491-99960408	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99896600-99933800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:99920000-99932800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:99920200-99933600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:99930400-99931600	Active TSS	HSMMtube	muscle
5	chr5:99930600-99931800	Flanking Active TSS	NH-A	brain
6	chr5:99930800-99931600	Enhancers	Rectal Smooth Muscle	rectum
7	chr5:99930800-99931800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:99930800-99931800	Flanking Active TSS	Osteobl	bone
9	chr5:99930800-99932200	Enhancers	Dnd41	blood
10	chr5:99931000-99931600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:99931000-99931600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:99931000-99931800	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr5:99931000-99931800	Active TSS	Stomach Smooth Muscle	stomach
14	chr5:99931000-99931800	Enhancers	HepG2	liver
15	chr5:99931000-99931800	Enhancers	HMEC	breast
16	chr5:99931000-99931800	Flanking Active TSS	NHEK	skin
17	chr5:99931000-99932000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:99931000-99932200	Enhancers	Fetal Muscle Leg	muscle
19	chr5:99931000-99933800	Enhancers	Fetal Intestine Large	intestine
20	chr5:99931200-99931600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:99931200-99931600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:99931200-99931600	Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:99931200-99931600	Active TSS	HSMM	muscle
24	chr5:99931200-99931800	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr5:99931400-99931600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:99931400-99931600	Enhancers	Adipose Nuclei	Adipose
27	chr5:99931400-99931600	Enhancers	Aorta	Aorta
28	chr5:99931400-99931600	Flanking Active TSS	A549	lung
29	chr5:99931400-99931800	Active TSS	Psoas Muscle	Psoas
30	chr5:99931400-99931800	Flanking Active TSS	HUVEC	blood vessel
31	chr5:99931400-99931800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr5:99931400-99931800	Flanking Active TSS	NHLF	lung
33	chr5:99931400-99932000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:99931400-99932000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:99931400-99932200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:99931400-99932200	Enhancers	Ovary	ovary

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