Variant report

Variant	rs73774457
Chromosome Location	chr5:99930696-99930697
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
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]
rs73774458	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:11 , 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
11	esv3373847	chr5:99928703-99930826	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99872400-99931400	Weak transcription	Aorta	Aorta
2	chr5:99895800-99931000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:99896600-99933800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:99896800-99931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:99898000-99930800	Weak transcription	Dnd41	blood
6	chr5:99899800-99931400	Weak transcription	Adipose Nuclei	Adipose
7	chr5:99905800-99931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:99912600-99930800	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:99914800-99931000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:99916800-99931400	Weak transcription	Ovary	ovary
11	chr5:99917400-99931000	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:99920000-99932800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:99920200-99930800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:99920200-99933600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:99929000-99931400	Weak transcription	Psoas Muscle	Psoas
16	chr5:99930000-99930800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:99930000-99930800	Enhancers	Osteobl	bone
18	chr5:99930200-99930800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:99930200-99930800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:99930200-99931000	Enhancers	HSMM	muscle
21	chr5:99930200-99931000	Flanking Active TSS	HUVEC	blood vessel
22	chr5:99930400-99931000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:99930400-99931600	Active TSS	HSMMtube	muscle
24	chr5:99930600-99930800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:99930600-99930800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:99930600-99931000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:99930600-99931000	Enhancers	NHEK	skin
28	chr5:99930600-99931000	Enhancers	NHLF	lung
29	chr5:99930600-99931800	Flanking Active TSS	NH-A	brain

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