Variant report

Variant	rs602641
Chromosome Location	chr5:112552222-112552223
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1662961	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2440190	0.88[EUR][1000 genomes]
rs3846718	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3846719	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705804	0.86[ASN][1000 genomes]
rs496977	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs520680	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs557438	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs639680	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs652794	0.85[EUR][1000 genomes];0.90[ASN][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112539200-112554000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112540800-112553400	Weak transcription	Brain Angular Gyrus	brain
3	chr5:112542000-112553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112542000-112553400	Weak transcription	Lung	lung
5	chr5:112546600-112555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:112546800-112552800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:112546800-112553800	Enhancers	Ovary	ovary
8	chr5:112547200-112553200	Enhancers	Fetal Heart	heart
9	chr5:112547200-112555600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:112547800-112552400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:112547800-112555600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:112547800-112555800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:112548000-112552800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:112548000-112555600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:112548200-112552800	Enhancers	NHEK	skin
16	chr5:112548400-112553200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
18	chr5:112548600-112553400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:112548600-112554000	Weak transcription	HUVEC	blood vessel
20	chr5:112548800-112553200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:112549000-112554000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:112549600-112559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:112549800-112552800	Weak transcription	Liver	Liver
24	chr5:112550000-112553200	Weak transcription	Fetal Stomach	stomach
25	chr5:112550000-112553400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:112550000-112556800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:112550200-112552600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:112550200-112552800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:112550200-112553400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:112550200-112553400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:112550200-112553400	Weak transcription	Fetal Brain Male	brain
32	chr5:112550200-112553400	Weak transcription	Fetal Lung	lung
33	chr5:112550200-112553400	Weak transcription	Psoas Muscle	Psoas
34	chr5:112550200-112559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:112550600-112553200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:112550600-112553200	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:112550600-112558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:112550800-112553200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:112551000-112553600	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:112551000-112556800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:112551200-112554000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:112551400-112553200	Weak transcription	Left Ventricle	heart
43	chr5:112551400-112553200	Weak transcription	Right Atrium	heart
44	chr5:112551400-112553400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:112551400-112553400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:112551400-112553400	Weak transcription	Right Ventricle	heart
47	chr5:112551400-112553600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:112551400-112556600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:112551600-112552400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:112551600-112553200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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