Variant report

Variant	rs11748060
Chromosome Location	chr5:112497288-112497289
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	chr5:112485402..112488072-chr5:112495550..112498480,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11241195	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12654269	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13354564	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17135364	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7714361	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7733404	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
2	chr5:112486800-112500400	Weak transcription	Gastric	stomach
3	chr5:112487200-112498200	Weak transcription	Esophagus	oesophagus
4	chr5:112489200-112500000	Weak transcription	Liver	Liver
5	chr5:112490200-112498600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:112491000-112498800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:112492200-112497600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:112492800-112498600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:112493200-112499800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:112493200-112500400	Weak transcription	Aorta	Aorta
11	chr5:112493400-112497600	Weak transcription	Right Atrium	heart
12	chr5:112493800-112498200	Weak transcription	Left Ventricle	heart
13	chr5:112493800-112498600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:112493800-112500400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:112493800-112504600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:112494800-112497400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:112494800-112497600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:112494800-112497600	Weak transcription	Right Ventricle	heart
19	chr5:112494800-112498200	Weak transcription	Psoas Muscle	Psoas
20	chr5:112494800-112500400	Weak transcription	Lung	lung
21	chr5:112494800-112500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:112495200-112497800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:112495400-112498600	Enhancers	Fetal Heart	heart
24	chr5:112495800-112506400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:112496000-112497600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:112496000-112502400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:112496000-112506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:112496200-112497600	Weak transcription	Ovary	ovary
29	chr5:112496200-112498600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:112496200-112501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:112496200-112502200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:112496400-112501800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:112496400-112502400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:112496600-112501600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:112496800-112497800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:112496800-112503000	Enhancers	HMEC	breast
37	chr5:112497000-112499200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:112497000-112500200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:112497200-112497600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:112497200-112497800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:112497200-112498200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:112497200-112499200	Flanking Active TSS	NHEK	skin
43	chr5:112497200-112501200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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