Variant report

Variant	rs790480
Chromosome Location	chr5:127147547-127147548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs711359	0.88[EUR][1000 genomes]
rs790476	0.89[EUR][1000 genomes]
rs790477	0.89[EUR][1000 genomes]
rs790479	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127139200-127151800	Weak transcription	Stomach Mucosa	stomach
2	chr5:127141000-127148000	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:127141800-127147600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:127145000-127151000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:127145800-127149800	Weak transcription	Fetal Brain Male	brain
6	chr5:127146000-127147600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:127146000-127148000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:127146000-127148400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:127146000-127148400	Weak transcription	Fetal Stomach	stomach
10	chr5:127146200-127147800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:127146200-127148400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:127146200-127148400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:127146200-127148600	Weak transcription	Esophagus	oesophagus
14	chr5:127146400-127147600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:127146400-127147800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:127146400-127148600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:127146400-127149800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:127146600-127147600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:127146600-127148400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:127146600-127148600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:127146800-127148400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:127146800-127148400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:127146800-127148400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:127146800-127148600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:127147000-127148000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:127147000-127148200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:127147200-127148200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:127147200-127148400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:127147200-127148400	Enhancers	A549	lung
30	chr5:127147400-127150600	Enhancers	HMEC	breast
31	chr5:127147400-127151000	Enhancers	NHDF-Ad	bronchial
32	chr5:127147400-127151000	Enhancers	NHLF	lung

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