Variant report

Variant	rs57991493
Chromosome Location	chr5:15539534-15539535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10059008	1.00[EUR][1000 genomes]
rs10063263	1.00[EUR][1000 genomes]
rs10077393	1.00[EUR][1000 genomes]
rs11133817	1.00[EUR][1000 genomes]
rs13356380	1.00[EUR][1000 genomes]
rs1529487	1.00[EUR][1000 genomes]
rs16903864	1.00[EUR][1000 genomes]
rs16903892	1.00[EUR][1000 genomes]
rs188592	1.00[EUR][1000 genomes]
rs2402164	1.00[EUR][1000 genomes]
rs28713425	1.00[EUR][1000 genomes]
rs28716171	1.00[EUR][1000 genomes]
rs2896211	1.00[EUR][1000 genomes]
rs304557	1.00[EUR][1000 genomes]
rs304559	1.00[EUR][1000 genomes]
rs304560	1.00[EUR][1000 genomes]
rs304561	1.00[EUR][1000 genomes]
rs304562	1.00[EUR][1000 genomes]
rs4701626	1.00[EUR][1000 genomes]
rs4701628	1.00[EUR][1000 genomes]
rs4701629	1.00[EUR][1000 genomes]
rs4702074	1.00[EUR][1000 genomes]
rs4702075	1.00[EUR][1000 genomes]
rs4702077	1.00[EUR][1000 genomes]
rs512861	1.00[EUR][1000 genomes]
rs572051	1.00[EUR][1000 genomes]
rs57474224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs575014	1.00[EUR][1000 genomes]
rs598853	1.00[EUR][1000 genomes]
rs609984	1.00[EUR][1000 genomes]
rs623156	1.00[EUR][1000 genomes]
rs633807	1.00[EUR][1000 genomes]
rs652985	1.00[EUR][1000 genomes]
rs6554885	1.00[EUR][1000 genomes]
rs683393	1.00[EUR][1000 genomes]
rs685706	1.00[EUR][1000 genomes]
rs73751952	1.00[EUR][1000 genomes]
rs73751955	1.00[EUR][1000 genomes]
rs7709371	1.00[EUR][1000 genomes]
rs7717617	1.00[EUR][1000 genomes]
rs9312884	1.00[EUR][1000 genomes]
rs9312886	1.00[EUR][1000 genomes]
rs9968651	1.00[EUR][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:48 , 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	chr5:15534400-15540000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:15534400-15550600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:15536400-15561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:15536600-15543600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:15536600-15547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:15536800-15539600	Enhancers	Fetal Heart	heart
14	chr5:15537200-15539600	Enhancers	Colon Smooth Muscle	Colon
15	chr5:15537600-15539600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:15537600-15539600	Enhancers	Brain Hippocampus Middle	brain
17	chr5:15537600-15539800	Enhancers	Fetal Muscle Leg	muscle
18	chr5:15537800-15539600	Enhancers	Brain Anterior Caudate	brain
19	chr5:15537800-15539800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:15537800-15540200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:15537800-15540600	Enhancers	HSMMtube	muscle
22	chr5:15537800-15540800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:15538000-15539600	Enhancers	Brain Cingulate Gyrus	brain
24	chr5:15538000-15540600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:15538000-15541000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:15538000-15542800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:15538000-15543200	Weak transcription	Left Ventricle	heart
28	chr5:15538000-15543400	Weak transcription	Ovary	ovary
29	chr5:15538200-15539800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:15538200-15541000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:15538200-15543600	Weak transcription	Right Ventricle	heart
32	chr5:15538200-15547000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:15538400-15539600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:15538400-15539600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:15538400-15539600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:15538400-15539800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr5:15538400-15541000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:15538600-15539600	Enhancers	Brain Angular Gyrus	brain
39	chr5:15538600-15539600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:15538800-15539600	Enhancers	Psoas Muscle	Psoas
41	chr5:15538800-15540800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:15538800-15543600	Weak transcription	Brain Germinal Matrix	brain
43	chr5:15539000-15540000	Weak transcription	HSMM	muscle
44	chr5:15539000-15547400	Weak transcription	Fetal Stomach	stomach
45	chr5:15539200-15539800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:15539200-15539800	Enhancers	Fetal Brain Female	brain
47	chr5:15539400-15544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:15539400-15547600	Weak transcription	Brain Substantia Nigra	brain

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