Variant report

Variant	rs73244745
Chromosome Location	chr5:112544583-112544584
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112543148..112545811-chr5:112546291..112548592,2	K562	blood:
2	chr5:112543815..112546269-chr5:112600639..112603401,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34086862	1.00[EUR][1000 genomes]
rs58254276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6878004	1.00[EUR][1000 genomes]
rs73244739	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73244746	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73244747	1.00[EUR][1000 genomes]
rs73244748	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73244750	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112539000-112547200	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:112539200-112549200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:112539200-112554000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:112539400-112548000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:112539400-112548000	Weak transcription	Fetal Stomach	stomach
6	chr5:112539600-112544800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:112539800-112546800	Enhancers	Fetal Heart	heart
8	chr5:112539800-112548200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:112540000-112547800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:112540000-112548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:112540400-112548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:112540600-112547200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:112540600-112548000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:112540800-112547800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:112540800-112548800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:112540800-112553400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:112541000-112547800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:112541200-112548000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:112541200-112548200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:112541600-112547200	Weak transcription	Brain Anterior Caudate	brain
21	chr5:112541800-112547000	Weak transcription	Fetal Lung	lung
22	chr5:112541800-112547200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:112541800-112547200	Weak transcription	Adipose Nuclei	Adipose
24	chr5:112541800-112548200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:112541800-112550400	Weak transcription	Esophagus	oesophagus
26	chr5:112542000-112545000	Weak transcription	Ovary	ovary
27	chr5:112542000-112545000	Weak transcription	Right Ventricle	heart
28	chr5:112542000-112546600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:112542000-112547200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:112542000-112547800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:112542000-112548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:112542000-112553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:112542000-112553400	Weak transcription	Lung	lung
34	chr5:112543600-112547600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:112543800-112546200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:112543800-112547000	Weak transcription	Brain Substantia Nigra	brain
37	chr5:112543800-112547200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:112543800-112547600	Weak transcription	Liver	Liver
39	chr5:112543800-112548000	Weak transcription	HMEC	breast
40	chr5:112543800-112548200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:112543800-112548200	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:112544000-112548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:112544200-112544600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:112544200-112544800	Enhancers	Fetal Kidney	kidney
45	chr5:112544200-112546800	Weak transcription	Psoas Muscle	Psoas
46	chr5:112544200-112548000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:112544200-112548000	Weak transcription	Left Ventricle	heart
48	chr5:112544200-112548000	Weak transcription	Right Atrium	heart
49	chr5:112544400-112545200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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