Variant report

Variant	rs56814474
Chromosome Location	chr5:112496917-112496918
allele	A/G
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: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2165932	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732695	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7737490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935160	1.00[EUR][1000 genomes];0.99[ASN][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
2	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:112486800-112500400	Weak transcription	Gastric	stomach
4	chr5:112487200-112498200	Weak transcription	Esophagus	oesophagus
5	chr5:112489200-112500000	Weak transcription	Liver	Liver
6	chr5:112490200-112498600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:112491000-112498800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:112492200-112497600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:112492400-112497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:112492800-112498600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:112493200-112499800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:112493200-112500400	Weak transcription	Aorta	Aorta
13	chr5:112493400-112497600	Weak transcription	Right Atrium	heart
14	chr5:112493800-112498200	Weak transcription	Left Ventricle	heart
15	chr5:112493800-112498600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:112493800-112500400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:112493800-112504600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:112494800-112497400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:112494800-112497600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:112494800-112497600	Weak transcription	Right Ventricle	heart
21	chr5:112494800-112498200	Weak transcription	Psoas Muscle	Psoas
22	chr5:112494800-112500400	Weak transcription	Lung	lung
23	chr5:112494800-112500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:112495200-112497800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:112495400-112497000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:112495400-112498600	Enhancers	Fetal Heart	heart
27	chr5:112495800-112497200	Enhancers	NHEK	skin
28	chr5:112495800-112506400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:112496000-112497600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:112496000-112502400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:112496000-112506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:112496200-112497600	Weak transcription	Ovary	ovary
33	chr5:112496200-112498600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:112496200-112501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:112496200-112502200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:112496400-112501800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:112496400-112502400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:112496600-112501600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:112496800-112497200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:112496800-112497800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:112496800-112503000	Enhancers	HMEC	breast

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