Variant report

Variant	rs524928
Chromosome Location	chr5:15542651-15542652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11955129	1.00[AMR][1000 genomes]
rs304540	1.00[AMR][1000 genomes]
rs304553	1.00[AMR][1000 genomes]
rs304585	1.00[AMR][1000 genomes]
rs304588	1.00[AMR][1000 genomes]
rs566631	1.00[AMR][1000 genomes]
rs590066	1.00[AMR][1000 genomes]
rs592200	1.00[AMR][1000 genomes]
rs599166	1.00[AMR][1000 genomes]
rs626130	1.00[AMR][1000 genomes]
rs641200	1.00[AMR][1000 genomes]
rs644859	1.00[AMR][1000 genomes]
rs6554879	1.00[AMR][1000 genomes]
rs6554881	1.00[AMR][1000 genomes]
rs667260	1.00[AMR][1000 genomes]
rs670272	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs676820	1.00[AMR][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	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15512200-15571200	Weak transcription	HUVEC	blood vessel
2	chr5:15518800-15547400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:15524000-15558600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:15533800-15543600	Weak transcription	Fetal Lung	lung
5	chr5:15533800-15547400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:15534000-15543800	Weak transcription	Aorta	Aorta
7	chr5:15534200-15550200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:15534400-15550600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:15536400-15561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:15536600-15543600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:15536600-15547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:15538000-15542800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:15538000-15543200	Weak transcription	Left Ventricle	heart
14	chr5:15538000-15543400	Weak transcription	Ovary	ovary
15	chr5:15538200-15543600	Weak transcription	Right Ventricle	heart
16	chr5:15538200-15547000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:15538800-15543600	Weak transcription	Brain Germinal Matrix	brain
18	chr5:15539000-15547400	Weak transcription	Fetal Stomach	stomach
19	chr5:15539400-15544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:15539400-15547600	Weak transcription	Brain Substantia Nigra	brain
21	chr5:15539600-15542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:15539600-15543400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:15539600-15543400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:15539600-15543600	Weak transcription	Brain Angular Gyrus	brain
25	chr5:15539600-15543600	Weak transcription	Brain Anterior Caudate	brain
26	chr5:15539600-15543600	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:15539600-15544000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:15539600-15547600	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:15539600-15549800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:15539800-15543200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:15539800-15543400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:15539800-15543400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:15539800-15543600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:15539800-15547200	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:15539800-15551200	Weak transcription	Fetal Brain Female	brain
36	chr5:15540200-15543600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:15540600-15543400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:15540600-15555000	Weak transcription	HSMMtube	muscle
39	chr5:15540800-15543600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:15540800-15543800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:15540800-15554600	Weak transcription	HSMM	muscle
42	chr5:15541000-15543400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:15541000-15543600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:15541000-15544000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:15541000-15558600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:15541400-15550800	Weak transcription	Fetal Brain Male	brain
47	chr5:15542400-15545600	Enhancers	Fetal Heart	heart

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