Variant report

Variant	rs12656003
Chromosome Location	chr5:112534888-112534889
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10070231	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11241196	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11738528	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12332686	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12659754	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1822489	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1867324	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6899208	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112515800-112538000	Weak transcription	Fetal Kidney	kidney
2	chr5:112518600-112538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:112522000-112538800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:112522600-112535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:112522600-112535200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:112522600-112541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:112522800-112535000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:112526400-112535000	Weak transcription	NH-A	brain
9	chr5:112526600-112535000	Weak transcription	NHDF-Ad	bronchial
10	chr5:112526600-112535200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:112526800-112535000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:112526800-112535000	Weak transcription	HMEC	breast
13	chr5:112527400-112538800	Weak transcription	Esophagus	oesophagus
14	chr5:112528600-112538600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:112529000-112538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:112529400-112535000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:112529600-112535000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:112530200-112538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:112530600-112536400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:112531200-112535200	Weak transcription	NHEK	skin
21	chr5:112531200-112535400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:112531400-112535200	Weak transcription	Lung	lung
23	chr5:112531400-112538600	Weak transcription	Placenta	Placenta
24	chr5:112531800-112535400	Weak transcription	Fetal Stomach	stomach
25	chr5:112531800-112541000	Weak transcription	Aorta	Aorta
26	chr5:112532000-112535000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:112532000-112535200	Weak transcription	Adipose Nuclei	Adipose
28	chr5:112532200-112535000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:112532200-112535200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:112532200-112538600	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:112532600-112535000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:112532600-112535200	Weak transcription	Psoas Muscle	Psoas
33	chr5:112533200-112536400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:112533200-112536600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:112533400-112536600	Enhancers	Ovary	ovary
36	chr5:112533400-112536600	Enhancers	Right Ventricle	heart
37	chr5:112533600-112536600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:112533800-112535200	Weak transcription	Left Ventricle	heart
39	chr5:112533800-112538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:112533800-112541400	Weak transcription	Spleen	Spleen
41	chr5:112534000-112535200	Weak transcription	Liver	Liver
42	chr5:112534000-112535200	Weak transcription	Fetal Lung	lung
43	chr5:112534000-112535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:112534000-112536800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:112534000-112537200	Enhancers	Fetal Heart	heart
46	chr5:112534000-112538000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:112534200-112536200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:112534400-112537400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:112534400-112538600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:112534600-112535800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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