Variant report

Variant	rs12516651
Chromosome Location	chr5:15553051-15553052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:15542930..15547234-chr5:15550922..15554714,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10065073	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10085170	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10474717	0.84[EUR][1000 genomes]
rs10475067	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13185365	0.95[ASN][1000 genomes]
rs4144522	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861983	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6862606	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6879834	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6889573	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732619	0.90[AMR][1000 genomes]
rs9312891	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9312892	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9312896	0.89[AMR][1000 genomes];0.82[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15512200-15571200	Weak transcription	HUVEC	blood vessel
2	chr5:15524000-15558600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:15536400-15561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:15540600-15555000	Weak transcription	HSMMtube	muscle
5	chr5:15540800-15554600	Weak transcription	HSMM	muscle
6	chr5:15541000-15558600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:15544600-15563400	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:15545200-15557600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:15547800-15554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:15547800-15557600	Weak transcription	Right Ventricle	heart
11	chr5:15548000-15553800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:15548200-15554000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:15548200-15557800	Weak transcription	Left Ventricle	heart
14	chr5:15548600-15557600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:15550600-15556400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:15550800-15554200	Weak transcription	Fetal Heart	heart
17	chr5:15551000-15561600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:15551200-15559400	Weak transcription	Fetal Brain Male	brain
19	chr5:15551200-15566200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:15551400-15554000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:15551400-15554200	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:15551400-15554200	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:15551400-15555200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:15551400-15558400	Weak transcription	Aorta	Aorta
25	chr5:15551400-15566800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:15551600-15561400	Weak transcription	Fetal Lung	lung
27	chr5:15551600-15561600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:15551600-15561800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:15551800-15553600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr5:15551800-15557400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:15552000-15553600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr5:15552200-15553600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr5:15552400-15553400	Strong transcription	Fetal Stomach	stomach
34	chr5:15552400-15553600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr5:15552600-15554800	Enhancers	Dnd41	blood
36	chr5:15552600-15555200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:15552800-15553800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:15552800-15556400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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