Variant report

Variant	rs73346997
Chromosome Location	chr5:126743583-126743584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11956397	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11957319	0.87[AMR][1000 genomes]
rs12109001	0.91[AFR][1000 genomes]
rs17164905	0.87[AMR][1000 genomes]
rs17164925	0.87[AMR][1000 genomes]
rs17164941	1.00[AMR][1000 genomes]
rs17164956	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55851028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56853109	1.00[AMR][1000 genomes]
rs57502023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58718502	1.00[AMR][1000 genomes]
rs59739975	0.87[AMR][1000 genomes]
rs60678437	0.87[AMR][1000 genomes]
rs60694077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60931267	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61021426	1.00[AMR][1000 genomes]
rs61031224	1.00[AMR][1000 genomes]
rs73331252	0.87[AMR][1000 genomes]
rs73348707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348729	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348755	1.00[AMR][1000 genomes]
rs73348768	0.87[AMR][1000 genomes]
rs73348777	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv526333	chr5:126732427-126746277	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126734800-126753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:126737600-126746400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126738600-126745000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:126738800-126746200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:126741600-126743600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:126742200-126745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:126742200-126745800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:126742400-126744200	Weak transcription	Brain Substantia Nigra	brain
10	chr5:126742400-126745000	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:126742400-126745000	Weak transcription	HSMM	muscle
12	chr5:126742400-126746000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:126742400-126746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:126742600-126744600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:126742600-126744600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:126742600-126745200	Weak transcription	Brain Angular Gyrus	brain
17	chr5:126742600-126745800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:126742600-126745800	Weak transcription	Brain Anterior Caudate	brain
19	chr5:126742800-126744400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:126742800-126745600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:126742800-126746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:126742800-126746800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:126742800-126754000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:126742800-126760200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:126742800-126762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:126743000-126744400	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:126743000-126744400	Weak transcription	Psoas Muscle	Psoas
30	chr5:126743000-126744400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:126743000-126744600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:126743000-126745000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:126743000-126745000	Weak transcription	HSMMtube	muscle
34	chr5:126743000-126755600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:126743200-126744000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:126743200-126745000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:126743200-126746000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:126743400-126744800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:126743400-126760000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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